Nbsmanual 28 6 2015 160712064159 PDF

Newborn Screening Manual
Newborn
Screening
Manual
A GUIDE FOR NEWBORN CARE PROVIDERS EDITION: 1

2015
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Newborn Screening Manual:

A Guide for Newborn Care Providers
This manual was created by Kuwait National Newborn Screening Committee

(KNNSC) as a comprehensive guide for newborn screening offices (NSO) and
other health care providers to ensure that all infants born in Kuwait have a high
quality newborn screen completed. This manual outlines recommended practices in
newborn screening, along with common problems encountered in practical
settings.
This manual is available free of charge to governmental and private hospitals that
submit newborn screening samples to NSO. Revised or additional pages of the
manual will be distributed periodically to ensure that the information contained is
consistent with current practices.
If you have any questions about the information contained in this manual, or would
like to order additional copies for your hospital, please e-mail
[email protected] .
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Table of contents
Background Introduction
information Newborn screening history
Newborn screening system
Newborn screening timeline
Limitation of newborn screening
Scope on parts of screening program
Role of the screening team
Specimen collection Definition
Ensuring that the screen performed
Parental right for refusal
Time for specimens collection
Special consideration in sample collection
Recommendation for neonate in ICU
Specimens handling after collection
Transportation guidline for DBS
Unsatisfactory Identification of unsatisfactory specimens
specimens
Causes of unsatisfactory specimens
Privacy and Privacy and confidentiality health information
confidentiality
Storage of the dried blood spot samples
Use of dried blood spot samples
Destruction of the dried blood spot sample
Specific Overview of NSO process
information
Screening methodology
Factor causing of false positive and false negative
Special consideration that affect results of screen
Outline of 22 disorders included in the panel
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Table of contents
Appendices Filter paper for dried –blood Algorithm for Decreased

spot specimens APP1 APP20
BIOTINIDASE
Referral form for early
discharged babies APP2 Algorithm for elevated C3
NBS report form for Tandem

MS/MS APP3 Algorithm for elevated C5DC
NBS report form for DELFIA Algorithm for elevated 17OH

APP4
progesterone
Transportation checklist APP5 Algorithm for elevated TSH
Laboratory refusal form APP6 Algorithm for Decreased GALT
Low birth weight and sick
newborns guidline APP7 Algorithm for elevated C16OH
Newborns admitted to NICU APP8 Algorithm for elevated C8

Newborn screening flowchart APP9 Algorithm for elevated C14:1
Newborn screening order form
(KMGC) APP10 Algorithm for elevated C5
Newborn screening order form

(each hospital) APP11 Algorithm for elevated C5OH
List of disorders in the Algorithm for elevated

newborn screening APP12
CITRULLINE
Newborn screening card Algorithm for elevated
replacement form APP13
METHIONINE
Parental refusal for newborn
screening APP14 Algorithm for MSUD
Newborn Screening sample Algorithm for elevated

collection procedure APP15
PHENYLALANINE
Diagram of invalid specimens Algorithm for elevated
APP16
TYROSINE
Diseases screened by Kuwait NBSResults and
symptoms APP17 APP21
Confirmatory Testing
Disease summary APP18
Brochure APP19
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Introduction : Ensuring that every infant born in Kuwait is screened

and that every affected infant receives appropriate
treatment and follow-up requires the coordinated efforts
Newborn screening is a public health system made up of of three main groups of Health care providers (HCPs):
many different yet integral parts: screening, diagnosis,
management, evaluation and education. • NSO in hospitals :
The idea was born 1979 when Kuwait Medical Genetic They are responsible for the prompt follow up in the event
Center constructed. Kuwait National Newborn Screening of positive screen, unsatisfactory sample or a screen is
Program was based on screen two diseases in the missed. The NSO will release statistics with the confirmed
governmental hospital of Kuwait (MOH). KNNSC cases and false positive screening results. They responsible
coordinated the modernization of Kuwait newborn for parent education about newborn screening, specimen
screening system over the last few years, both in the collection, providing accurate and complete information for
logistical aspects of how the program is run and in the every screened infant, and for prompt follow-up in the event
ability to screen for an increasing number of diseases. a sample is unsatisfactory or a screen is missed.
To ensure that the newborn screening system runs
smoothly, Newborn Screening Offices (NSO) is • Newborn Screening Laboratories at KMGC :
responsible for communicating with a multitude of NSL is responsible for testing, record keeping, quality
newborn screening stakeholders including the families of assurance of testing, communication with NSOs about
infants screened, Newborn Screening labs, neonatal unsatisfactory or missed samples, referring screen positive
departments and the Ministry of Health. infants to NSO in hospitals, obtaining follow-up
Expanded newborn screening began in October 2014, information on screen positive infants, and providing
making Kuwait one of the most comprehensive newborn education about newborn screening to parents, health care
screening programs in Middle East. providers, and the general public.
The primary goal of newborn screening is the early
identification of affected infants in time to prevent • Metabolic and Endocrine clinics:
serious health problems. To do so, every infant must be Every screen positive infant is referred to metabolic
offered screening. Realizing this goal involves the specialist clinic . The metabolic specialist is responsible for
combined efforts of health care providers across the state. ensuring confirmatory testing of screen positive infants,
The purpose of this guide is to ensure that all infants born management of confirmed cases, providing NSO with
in Kuwait have the opportunity to have a high quality follow-up information, and for education of local health
newborn screen completed. care providers.
This manual outlines:
• recommended practices in newborn screening
• common problems with screening practices
• general information about NSO
• diseases currently included in the newborn screening Newborn Screening History in Kuwait
panel.
While all of the diseases tested for are rare and not 1965 – Screening for Phenylketonuria (PKU) as a pilot
usually apparent at birth, a collectively large number of study
affected infants in Kuwait will be found to have these
conditions every year but with low incidence. NSO can 1978 – Screening for congenital hypothyroidism (CH) as a
help these children to have the best start in life through pilot study
timely newborn screening, early diagnosis and treatment.
The cost of missing one of these conditions is immense, 2005 – Screening of PKU and CH start in Kuwait medical
both in human suffering and in financial terms. Untreated genetic center after receiving DELFIA system
infants can develop mental retardation, serious health
problems, or even die, sometimes without a diagnosis 2007 – Screening of PKU, CH, 17OH progesterone,
being made. Galactosemia and biotindase start in Kuwait medical
genetic center after receiving DELFIA system
2014 – Screening of 22 diseases in Kuwait started after

receiving Tandem mass spectrometry system.
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Kuwait Newborn Screening system
In addition, the Newborn Screening Committee includes most

expert professionals in newborn screening to establish the
policies of newborn screening program, for any information,
contact [email protected]
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NSO contact information
Dr. Mona Al-khawari Up to date protocol:

Kuwait National Newborn Screening –Chair Kuwait National Newborn Screening Committee will
add any new update of forms in the website .
Phone: 97290055
If you would like to be informed with any new update,
Fax: 22436149
please send an email with your name, institution, fax
E-mail: [email protected]
and phone number to:
Dr. Laila A.Bastaki [email protected]
Kuwait Medical Genetic Center –Director
Phone: 99641572
Fax: 24814328
E-mail: [email protected] 10 important points to remember about
Newborn screening laboratories at Kuwait newborn screening
Medical Genetic Center 1. Please use the term “Newborn Screen.” The term
Phone: 24814328 “Genetic test” is confusing to parents.
Fax: 24823242
e-mail:[email protected] 2. The incidence of all the newborn screening diseases
Our lab hours are Sunday to Thursday 8:00am-16:00pm very low and few cases are discovered per year
Holidays 8:00 – 01:00
3. Screen every infant. Newborn screening detects rare
NSO at Farwanyia Hospital diseases that are not apparent at birth. Most affected
Phone: 24888000 - ext.: 6319 infants do not have a family history of the disease;
Fax: 24805072 therefore every infant is at risk.
e-mail:[email protected]
Office hours are Sunday to Thursday 8:00am-13:00pm 4. Screen every infant prior to discharge from
hospital.
Infants discharged prior to 24 hrs of age should have
NSO at Al adan Hospital a sample taken prior to discharge. Inform parents of
Phone: 23941628 the need and process for a repeat screen prior to five
Fax: 23966826 days of age. If an infant is transferred to another
email:[email protected] hospital, ensure there is communication between
Office hours are Sunday to Thursday 8:00am-13:00pm hospitals regarding the responsibility for obtaining the
newborn screen.
NSO at Al jahra Hospital 5. Goal of Newborn Screening:
Phone: 24569418 Diagnose and treat in early life.
Fax: 24577213 If undetected and untreated these disorders may cause
e-mail:[email protected] mental retardation, serious health problems, or even
Office hours are Sunday to Thursday 8:00am-13:00pm death. Early detection and treatment can greatly
improve the outcome for these babies and sometimes
NSO at Maternity Hospital even save their life.
Phone: 24843100 ext. 7206 For example, infants with PKU and congenital
24842100 ext. 7206 hypothyroidism irretrievably lose significant cognitive
Fax: function if phenylalanine and thyroid stimulating
e-mail:[email protected] hormone (TSH) are not under control by three weeks of
Office hours are Sunday to Thursday 8:00am-13:00pm age.
Al- Sabah Hospital laboratories

Phone: 24815000 ext. 3432- Dr.Rao(mob.99535228) / 3716-Dr.Jassim Abbas (mob . 66661580)
3713 – Dr.Ayman Salloum (mob. 66057790)
Fax: 24840319
e-mail:[email protected]
Office hours are Sunday to Thursday 8:00am-13:00pm
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After delivery
6. A) A positive screen does not mean a baby is
affected with a disease: A newborn screening blood spot collection card should
• confirmatory tests must be done to confirm or rule out a be completed between one day (24 hours) and seven
disease days after the birth of the infant, ideally, between two
days (48 hours) and three days (72 hours) after birth. If
B) A negative screen does not rule out a disease: tested before 24 hours of age, the test should be
• Any infant symptomatic of a disease should have repeated within 5 days (eg. at the first postnatal
the appropriate diagnostic evaluation immediately. checkup). Blood spots from infants are collected using
the heel-prick method, which is detailed on the back of
7. Newborn screening is standard of care and is the specimen card. The parent should be given the
strongly recommended for all infants, but is education, pamphlets to orient with the program.
not mandatory.
Ensure that you have thoroughly explained newborn Newborn Screening offices in hospitals will fill out
screening to all parents. If parents do not consent to demographic information about the infant and the
testing, it is extremely important to document the refusal infant’s mother on the blood spot collection card. This
in the infant’s records. information allows newborn screening laboratory to
correctly interpret the infant’s results, and, in the event
8. Unsatisfactory samples require a repeat sample that the infant screens positive for a disease, it will
immediately. allow the NSO coordinating follow-up to contact the
The NSO that took the initial sample is responsible for parent quickly to retrieve the infant.
ensuring the repeat sample is done, even if the infant has
been discharged. Delays in obtaining a repeat sample can It is important that you emphasize to parents that
lead to delayed diagnosis and serious health problems in newborn screening is part of their infant’s routine care
affected infants. and could save their infant’s life and/or prevent serious
health problems. The vast majority of parents agree to
9. Ensure that the newborn screening cards are have their infant screened. Parents may choose to
filled out completely and accurately. decline newborn screening for their infant. You should
All requested information is essential for accurate discuss this decision with them, and you should
interpretation and follow-up of results. Incorrect or document this decision in the infant’s medical record.
missing information can lead to false positive results and NSOs will ask parents to sign a form indicating that
unnecessary testing for healthy infants. they have refused newborn screening for their infant.
10. For any additional information contact
[email protected]
It is critical that newborn screening laboratories
The newborn
receive screening
the newborn screening (NS) sample
specimen card as
soon as possible after the blood spots are collected.
Therefore, the cards should be sent no later than 24
hours after collection and, ideally, as soon as the
Newborn screening timeline blood spots are dry (2-3 hours after collection).
Infants with some of the diseases screened will start
Before birth to become ill and may suffer irreversible damage
soon after birth.
As a provider of antenatal or newborn care, you should
discuss newborn screening with your patient. Information DO NOT BATCH SAMPLES FOR
about newborn screening should also be discussed with TRANSPORTATION.
prospective parents in their prenatal education classes. To
assist with parent education, pamphlets about newborn
screening are available in many different languages
(Arabic/English) and can be found in the NS offices in
hospitals .
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When the sample is received, the blood spot is tested and

the demographic information from the newborn screening
card is entered into a database. This database links the
infant’s information with the results of the screening tests,
Screening limitations
and also serves as a way to store the infant’s newborn
screening result. As with all screening tests, false positive and false
The results of the screening tests are reviewed by a negative results occur in newborn screening. False
biochemistry consultant to determine if the infant has a positives may increase parental anxiety, while false
lower risk of having a disease (“screen negative”) or a negatives will give a misleading sense of
higher risk of having a disease (“screen positive”). reassurance. If an infant in your care displays
symptoms of a particular disease, the child should
Newborn screening results be investigated and managed appropriately
regardless of the results of the newborn screen. The
relevant specialist should be contacted immediately
Screen negative results (low risk) for further advice.
If the infant is “screen negative”, he or she has a low risk There is wide variation in the clinical presentation
of having any the diseases included on the screening of the diseases that the newborn screen detects.
panel. In this case, a report is mailed to the hospital or Therefore, some affected individuals – infants who
health care provider that submitted the infant’s sample. have had diagnostic testing indicating that they
have a particular disease– will remain
Unsatisfactory sample asymptomatic or have very mild symptoms, even
without treatment.
If the infant’s sample is unsatisfactory (for example, if it
was taken too early, or if there was not enough blood to
do the testing), newborn screening laboratories will
contact the hospital that sent in the sample and ask them
for a new sample. The NSO who submitted the sample
should send another if the baby still present in the
neonatal department but if discharged they will need to
call the parent to tell them that the infant’s test needs to be
repeated and make arrangements for another sample to be
taken as soon as possible.
Screen positive results (increased risk)
If the infant is screen positive, this does NOT mean that

the infant has a disease; however, it does mean that the
infant has an increased chance to have a disease. An NSO
physician will refer the infant to metabolic specialist for
follow-up diagnostic testing to determine if the infant
truly has the disease. In some cases, NSO staff work
directly with families to arrange testing.
The metabolic specialist will provide the referring
physician at NSO with follow-up information about the
infant, as is the case for any medical referral. This
includes medical information, which tests were done, the
results of those tests, and whether or not the infant truly
has the disease.
This feedback allows NSO to make sure that screen
positive infants receive appropriate and timely care.
So ,can do monthly statistic of newborn screening
program.
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List of disorders included in the Newborn Screening

panel
Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemia (ASA synthase deficiency )
Tyrosinemia (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase Deficiency (LCHAD)
Trifunctional Protein Deficiency (TFP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)
Galactosemia
Biotinidase Deficiency
Endocrine Disorders :
Congenital Hypothyrodism
Congenital Adrenal Hyperplasia
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Scope: g. Working hours for Clinical Biochemistry doctors:"

Will follow MOH regulation"
1. Kuwait Medical Genetics Center (KMGC) is 4. Data registry:
the place for processing the collected filter papers a. Site; KMGC
from all newborn babies in Kuwait b. In-charge personnel;
i. NBS Coordinator
2. Newborn Screening Office (NSO): ii. Data entry personnel
a. Located in hospitals with maternity services iii.MOH Informatics Directorate
(Farwanyia, Adan, Al-Jahra, and Sabah Maternity c. Method; Newborn Screening Software
hospitals).
b. Manned with one neonatologist ,one nurse , Equipment:
phlebotomist and data entry personnel per shift. 1. Tandem mass spectrometry
c. Working hours: 2. Fluoroimmunoassay analyzer (DELFIA system)
i. Working days :Open from 7:00-14:00 hours 3. Hardware and Software for data registry
ii. Saturdays and public holidays: Open from 4. Newborn screening website
8:00-13:00 hours 5. Consumables
(a) Blood spot punctures
3. Newborn screening unit (NSU)in Kuwait (b) Filter papers for dried–blood spot specimens
Medical Genetics Centre: (c) CD rack, paper envelope (A5)
a. Senior Clinical Biochemistry doctors (d) Referral form for early discharged babies
b. Two Clinical Biochemistry registrars (e) Transport checklist
c. Medical laboratory technologists (f) NBS resources order form
d. Two NBS coordinators (g) Parental refusal for newborn screening
e. Administrative staff (h) Newborn screening card replacement form
f. Working hours Medical laboratory technologists: (i) Brochures
i. Working days :Open from 7:00-19:00 hours (j) Posters: collecting samples, valid samples, newborn
ii. Saturdays and public holidays: Open from screening flowchart.
8:00-13:00 hours
References :
1. Clinical Laboratory and Standards Institute. Blood collection on filter paper for newborn screening programs; Approved standard–Fifth
edition. CLSI document LA4-A6. Wayne, PA: Clinical and Laboratory Standards Institute; 2012. "
2. De Jesús VR, Mei JV, Bell CJ, Hannon WH. Improving and assuring newborn screening laboratory quality worldwide: 30-year
experience at the Centers for Disease Control and Prevention. Seminars in Perinatalology 2010; 34:125–33. "
3. Federal Register. 39 CFR part 111 New Mailing Standards for Division 6.2 Infectious Substances. 2006; Section 10.17.9(b). Available
at: www.gpo.gov/fdsys/pkg/FR"
4. Federal Register. 49 CFR part 173 Shippers General Requirements for Shipments and packaging. 2010; Section 173.134(b). Available
at: http://ecfr.gpoaccess.gov/cgi"
5. World Health Organization. Guidance on regulations for the transport of infectious substances 2011 2012 .Geneva: WHO /HSE/IHR/
2010.8.Available at: http:// www.biosafety.moh.gov.sg/home/uploadedFiles/Common/
WHO_Guidance_on_regulations_for_transport_of_Infectious_Substances."
6. Centers for Disease Control and Prevention. Guide to infection prevention for Outpatient settings: minimum expectations for safe care.
Available at:" http://www.cdc.gov/HAI/settings/outpatient/outpatient-care-gl-standared-precautions"
7. Michigan Department of Community Health,Newborn screening guideline,October 2013"
8.newborn screening manual guideline of ontario
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Newborn Screening office:

f. Assuring that hospital NBS policies and
A newborn Screening office is located in each of the 4 procedures include a protocol for notifying the NBS
governmental hospitals and is concerned with newborn program if parents refuse NBS testing or if a
screening activities in the draining areas covered by newborn death occurs after a specimen was sent to
these hospitals. Staff working in each office include: the NBS laboratory."
• Newborn Screening Coordinator 9. Perform educational activities"
• Nursing staff a. Informing and educating hospital staff about new
• Phlebotomist program guidelines and protocol changes e.g. new
disorders added to test panel, changes in specimen
Role of the Newborn Screening Coordinator: collection requirements, and other NBS information,
as necessary."
(Responsible doctor at Newborn Screening office)" b. Educating parents about importance of newborn
The hospital NBS coordinator plays a crucial role in screening and explanation of screening results."
assuring that the NBS process is both effective and
efficient. " Role of the Newborn Screening Office Nurses :
The coordinator fulfils this role by arranging, assisting
and following up of different steps of screening process 1. Gathering of Newborn Screening Samples from
assuring proper interaction between nursing, and NSO labour room, postnatal wards, NICU, SCU and
staff and assisting NSO staff in resolving problems." Newborn Screening Office"
The responsibilities of the NBS coordinator are:" 2. Assuring validity of samples for testing before
1. Clinical assessment of cases of positive screen results" delivery of samples to transportation personnel
2. Initiating confirmatory testing for positive screen" 3. Collecting samples in the specified envelope."
3. Referral of confirmed cases to specialist" 4. Delivery of samples to newborn screening
4. Reporting of confirmed cases and monthly statistics of transportation personnel with registration in
Newborn Screening (NBS) to Kuwait Medical Genetics registration book of data of each sample and total
Center." no.of valid samples delivered with date and time."
5. Serving as a contact person and facilitator between the 5. Recall of positive screen
NBS program and hospital staff involved in the NBS
process " Role of the Newborn Screening Office
6. Assuring that there is an adequate supply of NBS phlebotomy personnel :
brochures and a mechanism for distribution to all Collecting newborn Screening samples according to
mothers." standard protocol of sample collection
7. Working with obstetric department staff member to
incorporate NBS educational information is existing and Role of the Newborn Screening Office Data entry
future prenatal classes offered to parents." personnel :
8. Performing quality assurance activities:"
a. Assuring that there is a NBS policy in place describing 1. Registration of Newborn screening data in
the hospital’s NBS registration book and electronically."
procedures. " 2. Monthly statistics of NBS cases."recall of positive
b. Assuring that a log is maintained to track NBS screen."
specimens, transport personnel, and receipt of screening
results."
c. Assuring adequate inventory of NBS cards."
d. Providing guidance/information to nurses and
laboratory staff on the importance of accurately filling
out all demographic fields on the NBS card."
e. AssistingSpecimen collection
NSO staff in resolving problems of missing/
incorrect demographic information on the NBS card and
in obtaining retests when specimens were unsatisfactory
for testing."
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Definition
NSO, as a submitter, are integral to the newborn in-charge nurse in the ward regarding improper
screening process and responsible for parent education, sampling. "
specimen collection, and following up on unsatisfactory
samples and missed newborn screens. In following the 10.The in-charge nurse at the Newborn Screening Office
recommended newborn screening practices. should store the samples in the office at room
temperature."
Sample collection at Postnatal wards, NICU, SCU and
Labor rooms: 11. The coordinator at the Newborn Screening Office
1. Kuwait Medical Genetics Centre will supply the NSO has to guarantee safe transport of the filter papers to the
in different hospitals in the state of Kuwait with the filter newborn screening unit at KMGC.
papers and brochures, ect."
Ensuring that the screening test is
2. Inventory of supply is the responsibility of NBS
coordinator through the Head of the neonate departments performed?
using the NBS resources order form. Test is performed for all infants born in Kuwait
hospitals, ensuring the test has been offered/ performed
3. It is the responsibility of the nurse in-charge of the should be part of the pre-discharge check list. For
baby at the postnatal wards, NICU, SCU and labor room infants born at home ensuring that the test has been
to collect the blood sample following the instructions on offered / performed should be part of the first or second
back of the filter paper . postpartum visit.
If an infant is being transferred between hospitals, when
4. The ideal sample should be collected between (48-72 possible, the newborn screen should be performed prior
hour) of age; 24 hours at a minimum. " to the transfer and clearly documented in the discharge
summary. If the newborn screen was not performed
5. If the baby discharged home before 24 hour of age, prior to transfer, the plan for the newborn screen should
the first sample should be collected before discharge and be part of the discharge summary. Clear communication
a clear instructions has to be given to the parents by the between the two hospitals involved is essential to ensure
neonatologist regarding the importance of repeating the the newborn screen is offered/ performed
test up to one week and provide them with a referral
form to the Newborn Screening office to collect another Information for parents
sample of filter paper. It is important that antenatal and prenatal educators
discuss newborn screening with prospective parents.
6. The nurse in-charge should write the baby’s data on Pamphlets in multiple languages are available through
the filter paper including the contact numbers of the the NSO.
parents (It has to be 2 contact telephone numbers one of
them should be a land line) Parental right of refusal
Newborn screening is not currently mandated by law,
7. The nurse in-charge of the baby in any location should however, it is considered standard of care. The vast
register the baby’s data including the barcode of the majority of parents agree to have their infant screened.
filter paper in the screening registry book, as well as in As with many standard medical practices, there is no
the nursing notes of the baby’s/ mother’s medical record, formal province-wide mechanism to document consent.
which should be available in any location for collecting However ,members of KNNSC have taken many steps
samples." to provide education to ensure information is available
to parents to make informed decisions for their infants.
8. The nurse in-charge of the baby in any location should It is important that parents are made aware that newborn
allow the collected filter papers to dry in the assigned screening could save their infant’s life and/or prevent
racks for a minimum 3 hours. " serious health problems. Parents may decline screening,
and NSO should discuss this decision with them to
9. The in-charge nurse at the Newborn Screening Office ensure they are making an informed decision. Hospitals
should collect the samples from postnatal ward; NICU, should document this decision in the infant’s medical
SCU and Labor room and communicate with the record and/or have the parents sign a form indicating
they have refused this testing for their infant.
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Completing the Newborn Screening Card: Received TPN within 24 hrs of specimen collection."
• OTHER FEEDING: Check all that apply. For
It is extremely important to fill out the NBS card instance, if a mother is both breast and bottle feeding,
completely and accurately. The specimen submitter is mark both and indicate the type of formula."
legally responsible for the accuracy and completeness of • ANTIBIOTICS: "
the information on the NBS card. The card will be o For the 24-36 hour specimen; "
scanned into the NBS database so legibility is critical. ▪ State in the box “special things” if the
Press firmly using a black or blue pen and record the newborn is currently receiving antibiotics or the
following information in the spaces provided:" mother was receiving ongoing antibiotics at the time
of birth. "
Infant information: • TYPE OF COLLECTION: The preferred collection
method is by heel prick with a single drop of blood
• INFANT'S NAME: Record the mother in capital letters. applied directly to each circle on the filter paper.
You should put before mother name” baby of …” . In Check both “heel” and “capillary” if the blood was
multiple parity state the baby as twin I,II, ect." collected from the heel using a capillary tube. Note
• GENDER: Completely shade in the appropriate oval to that the use of a capillary tube can result in layered,
designate newborn's gender as male or female or serum, clotted and damaged specimens. If the heel was
unknown." not used, indicate the alternate collection method."
• BIRTH DATE: Use a six-digit number (dd / mm /yy) for
date of birth. For example, a birth on 4th of January 2012 Mother information:
would be recorded as 040112."
• BIRTH TIME: Record time of birth. For example, a • MOTHER'S NAME: Record last name followed by
birth at 4:30 p.m. " first name. If the newborn is going to be released at
• BIRTH WEIGHT in GRAMS: Record the exact birth birth to adoptive or foster parents, provide contact
weight in grams (1520 gram) in the boxes provided. Do information of adoptive or foster mother."
not use pounds and ounces. "
• CURRENT WEIGHT in GRAMS for 2nd and 3rd • MOTHER'S ADDRESS: Record mother's current
samples: Record the current weight in grams in the boxes address.Information about the mother is needed to
provided do not use pounds and ounces. " locate newborns in need of clinical evaluation or
• GESTATIONAL WEEKS: Record weeks of gestation at retesting."
time of birth. "
• MULTIPLE BIRTH ORDER: Completely record birth • MOTHER'S PHONE: Record mother's mobile and
order by "I”, “II”,“III" for twins, triplets, etc." home telephone number."
• SPECIMEN DATE: Use a six-digit number (dd/mm/ yy)
representing the date on which the specimen was • MEDICAL RECORD NUMBER-MOTHER: Record
obtained." the hospital identification or• medical record number
• COLLECTION TIME: Record time of specimen
collection." •BIOHAZARD CONDITIONS: Record in the special
• COLLECTED BY: Record initials or employee hospital things box if the mother is having HEPATITIS, AIDS
identification number of person collecting the specimen." OR OTHER INFECTIOUS DISORDER to deal with
• MEDICAL RECORD NUMBER BABY: Record the the sample according to the approved standard
birth/mother hospital's identification or medical record protocol"
number."
• NATIONALITY: Record Nationality of Newborn." • BIRTH HOSPITAL: Record name of the birth
• RBC TRANSFUSION: Record if the newborn was ever hospital here only if different from the submitter."
transfused with red blood cells prior to specimen
collection. If yes,record the date (dd / mm /yy) and the Note: It is extremely important to fill out the screening
time of the most recent transfusion. " card completely and accurately"
• ANY TPN FEEDING: Completely shade in oval “yes”
if the newborn is receiving total parenteral nutrition
(TPN) at the time the specimen is obtained -OR- received
TPN within 24 hrs of specimen collection."
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Timing of specimen collection

Premature (less than 33.0 weeks gestational age)
Full term infants
or low birth weight (less than 1800g) babies
should have:
A newborn screening sample should be collected
between one day (24 hours) and seven days after the
1. A first Newborn Screening specimen collected
birth of the infant. The ideal time to obtain the newborn
between 24 and 72 hours of age.
screen is between two days (48 hours) and three days (72
hours) after birth.
2. A second specimen collected at 2 weeks of age or
when the baby is being discharged home from the
hospital, which ever comes first
Infants discharged early (<24hrs)
.
• If the baby is discharged home prior to 2 weeks of
A newborn screening sample should be taken on every
age from a hospital blood draw prior to discharge.
infant prior to discharge from hospital. If this happens
before 24 hours, parents should be informed that a repeat
• If the baby is discharged home with the second
newborn screen after 24 hours must be done and be
specimen collected before 2 weeks of age
informed how to obtain a repeat screen for their infant.
consideration should be given to having a third
The repeat should be performed within 5 days of the
specimen arranged as an outpatient at 4 weeks of
initial sample.
age.
Not all diseases are reliably detected using blood
3. If the baby is being transferred to another hospital
samples taken before 24 hours of age. Samples obtained
after 2 weeks of age, the hospital receiving the baby
at less than 24 hours of age are considered
should confirm that the second sample was taken
unsatisfactory and a repeat sample will be requested.
prior to transfer. If it was not taken, the receiving
The NSO who submitted the initial sample is responsible
hospital should take the second sample as soon as
for making arrangements for the repeat sample to be
possible after the baby arrives.
obtained.
Premature or low birth weight infants
Premature and/or low birth weight infants who are being

screened should have their gestational age at birth and/or
birth weight clearly indicated on the newborn screening
specimen card.
Premature or low birth weight (LBW) babies may have a
delayed rise in TSH even if they have Congenital
Hypothyroidism (CH). As NS laboratory uses elevation
of TSH as the screening marker for CH, there is an
increased risk of a false negative result (missed case) if
these babies are screened only once in the early neonatal
period. Premature or LBW infants also have a higher
false positive rate for Severe Combined Immune
Deficiency (SCID) screening. It is therefore important
that screening samples are taken as outlined below and in
the flow chart at the appendix .
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The following exceptions to the above policy apply: positive screening results for amino acid diseases in
premature / LBW babies. Ideally, a specimen should be
1. A specimen should be collected prior to the baby collected at a time when the baby is receiving lower
receiving a packed red blood cell (PRBC) transfusion, even amounts of TPN.
if this is prior to 24 hours of age.
For example, if the baby is receiving 1.5 g/kg/d of amino
This will ensure a satisfactory screen for: acids at 24 hours of age, it is preferable to take the
screening sample before this amount is increased. Please
• Galactosemia since the test relies on measurement of the note that there is no increased risk of a false negative
Galactose-1-Phosphate Uridyltransferase enzyme activity result if a sample is taken when the baby is receiving
in red blood cells. higher amounts of amino acid solutions; screening should
not be delayed beyond 72 hours of age for this reason.
If the first sample is taken at less than 24 hours of age, a
second sample should be taken between 24 hours and 7 Premature infants ≥33 WGA and ≥1500g should
days of age. NOT be treated differently than term babies.
2. Total Parenteral Nutrition (TPN). Amino acid solutions

administered as part of TPN are a common reason for false
Samples collected from infants greater Total Parental Nutrition (TPN)

than 7 days of age
Samples taken from infants who are greater than 7 days If the infant is on TPN, the TPN circle on the blood spot
of age are analyzed. collection card should be checked. This helps NS
As the levels of many screening markers drop over the laboratory to interpret the infant’s results.
first week of life, these lab results are checked manually
to minimize the risk of missing an affected child (false
negative results). Infants transferred to another hospital
Transfused infants A newborn screening sample should be taken prior to
For the purpose of newborn screening, a transfusion is
discharge from the birth hospital. If transfer occurs <24
defined as receipt of packed red blood cells (PRBC). You
hours or a newborn screening sample was not taken at
may indicate “no” for transfusion status on the newborn
the birth hospital, this information should be included in
screening requisition if an infant has only received fresh
the discharge summary and the receiving hospital should
frozen plasma (FFP) and/or platelets.
collect the newborn screening sample. Clear
If possible, it is best to take the newborn screen prior to a
communication between the two hospitals involved is
blood transfusion. If the sample is not obtained before
essential to ensure the newborn screen is not missed.
transfusion, the health care provider should wait 48-72
hours hours before a first screening specimen is
collected.
Blood transfusions are known to affect the results of Expiration date
screening for galactosemia. Infants who are affected with
one of these disorders may be missed if they have a Check the expiration date of the blood spot collection
transfusion prior to their screen because the donor blood card located in the upper right hand corner of the card
interferes with the screen. next to the image of an hourglass, under the circles for
If an infant has a blood transfusion prior to their newborn the blood. The expiration date is in a year-month format
screen, a repeat sample should be obtained 4 to 6 months (i.e. 2014-05). If the blood spot collection card has
after their most recent transfusion . expired, use another card for specimen collection.
The NSO who submitted the initial sample is responsible
for making arrangements for the repeat sample to be
obtained. All correspondence with parents should be
documented.
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If you only have expired cards, order new cards
immediately. In the meantime, collect newborn
screening samples on the expired cards. NS laboratory
tests all samples received on expired cards ; however,
the sample is considered unsatisfactory and a repeat
sample will be required. Preliminary steps
If you identify newborn screening cards as expired,
please remove them from circulation. To avoid wasting Ensure that the expiration date of the blood spot collection
these cards, please return them to KMGC where they card has not passed.
will be used for other purposes, such as educational
initiatives. Please send the expired card(s) to KMGC Complete the required demographic information on the
via the same transportation system used to send the requisition portion of the blood spot collection card either
newborn screening samples. manually or electronically. In manual applications a
ballpoint pen should be used; soft-tip pens will not copy
through to the other sheets of paper. Address imprint
All fields on the newborn screening card should be devices (or adhesive labels) should never be used unless
filled in as completely as possible. A complete the handling process ensures that patient information is not
newborn screening report cannot be issued if certain obscured and the blood collection area is not
critical fields are not completed. compromised. Do not use printers that might compress the
paper.
Procedure for blood spot specimen Collect the required number of uniform blood spots
collection (currently 5). Failure to collect the appropriate number of
blood spots may result in the sample being unsatisfactory
Specimen quality for analysis due to insufficient blood. It is preferable not to
reapply blood in a partially filled circle as this may result
The primary goal of this standard is to ensure the
in layering. Each of the five 11 mm circles on the DBS
quality of blood spots collected from newborns.
card requires approximately 75 ul to 100 uL of blood to
Unacceptable and poor quality specimens place a
fill.
burden on the screening system, and cause unnecessary
trauma to the infant and anxiety to the infant’s parents.
Poor quality specimens can potentially delay the Avoid touching the area within the circles on the
detection and treatment of an affected infant, and could filter paper section of the blood spot collection
contribute to a missed or late diagnosed case. When NS card before, during, and after collection (blood
laboratory receives an unacceptable specimen, it spots) of the specimen. Do not allow water, feeding
requests another specimen from the NSO in hospital . formulas, antiseptic solutions, glove powder, hand
The turnaround time for analytic results is critical if lotion, or other materials to come into contact
treatment to prevent the adverse consequences of the with the specimen card before or after use.
condition (such as irreversible mental retardation or
death) is to begin on time.
Specimen acceptability
The only justification for refusing to analyze a specimen Unacceptable sites for NBS blood
and declaring it unacceptable is that its analysis might collection:
yield unreliable, misleading, values for one or more
analytes. For this reason, such specimens are not • Arch or central area of an infant’s foot.
analyzed, and those responsible for collecting the
original sample are notified immediately so that a new • Fingers of a newborn
sample can be collected as soon as possible. When a
specimen is analyzed, NSO is acknowledging that the • Earlobe
specimen is suitable for testing and is assuming
responsibility for the reliability of the analytic values • A swollen or previously punctured site as
accumulated tissue fluid may contaminate the
Methods of collection : specimen
- Heelstick (method of choice)
- Capillary tube • Uncleared intravenous lines
- Dorsal hand vein
- Umbilical Venous Catheter (UVC)
- Umbilical Arterial Catheter (UAC)
17 of 86
Cleaning the site

Precautions
The skin in the area of the puncture site should be
Confirm the identity of the infant and ensure accuracy of disinfected with alcohol (isopropanol/water: 70/30 by
the demographic data on the card. volume, “70%”). Allow the skin to air dry.
Wash hands vigorously before proceeding. All appropriate

precautions, including wearing powder-free gloves and
changing gloves between infants, should be employed.
Dispose used lancets in a biohazard container for sharp
objects. Puncture
Follow recommendations of infection control To obtain sufficient blood flow, puncture the lateral
aspect of the infant’s heel on the plantar surface with a
sterile lancet or with a heel incision device. The incision
device provides excellent blood flow by making a
Heelstick ( method of choice) standardized incision 1.0mm deep by 2.5 mm long. Any
puncture device used should be selected so that the
Site preparation puncture does not exceed 2.0 mm in depth. For infant
safety, scalpel blades or needles must not be used to
Warming the newborn’s heel, the skin-puncture site, can puncture the skin for blood collection. Disposable skin
help increase blood flow. A warm, moist towel or puncture lancets of different designs are commercially
commercial heel warming device at a temperature no available for performing the heel stick on infants. For
higher than 42oC may be used to cover the site for three worker safety, disposable skin puncture devices that
minutes. This technique increases the blood flow protect the user from unintentional self-inflicted skin
sufficiently and will not burn the skin. In addition, punctures are preferable.
positioning the infant’s leg lower than the heart will
increase venous pressure. Direct application
After the heel has been punctured, wipe away the first
drop of blood with a sterile gauze pad or cotton ball.
Allow a second large blood drop to form by
intermittently applying gentle pressure as the drop of
blood forms. Touch the filter paper gently against the
large blood drop and, in one step, allow a sufficient
quantity of blood to soak through and completely fill a
preprinted circle on the filter paper. Do not press the
filter paper against the puncture site on the heel. Blood
should be applied only to one side of the filter paper.
Both sides of the filter paper should be examined to
assure that the blood has uniformly penetrated and
Caution: saturated the paper to the other side. After blood has
been collected from the heel of the newborn, the foot
Topical anesthetic creams should not be used as they
should be elevated above the body, and a sterile gauze
may cause vasoconstriction and may also produce
pad or cotton swab pressed against the puncture site until
analytic interferences.
the bleeding stop
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circles requires approximately 75-100 uL) required for the

In small, premature infants: newborn screen.
the heel bone (calcaneus) might be no more than 2.0 Touch the tip of the capillary tube to the blood drop
mm beneath the plantar heel skin surface and half this formed at the heel puncture site. Allow blood to flow into
depth at the posterior curvature of the heel. Studies the tube by capillary action. Fill rates might be improved
indicate that for some infants (including full-term by holding the tube in a near-horizontal position when
infants) a puncturing depth beyond 2.0 mm might be touching to the blood drop. Collect enough blood to fill all
excessive and might cause bone damage. Puncture site the circles.
depth should not exceed 2.0 mm.
After filling the capillary tube, immediately apply the
contents of that tube to the center of a single, preprinted
Milking circle on the filter paper, completely filling the circle.
Waiting too long before application will allow cells and
Excessive milking or squeezing the puncture site may
plasma to separate or the blood to clot. To avoid damaging
cause hemolysis of the blood or result in a mixture of
the filter paper fibers, do not allow the capillary tube to
tissue fluids with the specimen that can adversely affect
touch the filter paper. Actions such as
the test result.
“colouring in” the circle, repeated dabbing around the
circle, or any technique that might scratch, abrade,
Layering compress, or indent the paper should not be used. These
actions may lead to compression of the filter paper and
Do not apply layers of successive blood drops to the same inaccurate blood volume collection.
printed circle. Applying successive drops of blood to
already partially dried spots causes “layering” and
inaccurate blood volume collection, which results in non- Do not reuse capillary tubes.
uniform analyte concentrations and invalidates the Apply blood to only one side of the filter paper. Do not
specimens. apply multiple capillary specimens to the same circle,
since caking or heterogeneous spreading will occur and
might adversely affect test results.
Collect the required number of uniform blood spots.
Failure to collect the appropriate number of blood spots
might result in the sample being unsatisfactory for
analysis due to insufficient blood.
After blood has been collected from the heel of the
newborn, the foot should be elevated above the body, and
Capillary tube method: a sterile gauze pad or cotton swab pressed against the
puncture site until the bleeding stops.
Although not the method of choice, specimens can be
obtained by applying blood to the blood spot collection
card, which has been collected in sterile, anticoagulant- Dorsal hand vein
free capillary tubes. The use of anticoagulants should be Although not the method of choice, blood collected from
avoided during the collection of the newborn screening needle puncture of the dorsal hand vein and its application
sample. As it may cause interference with some directly onto the preprinted circles of the filter paper is
laboratory tests. possible. Blood should not be drawn from an extremity
Using a fresh sterile, plain capillary tube for each circle into which IV fluids have been infused unless appropriate
to be filled on the blood spot collection card, collect the precautions are taken.
appropriate volume of blood (each of the five 11 mm Select the appropriate sized winged blood collection set
(butterfly). Remove or shorten catheter length so blood
can flow freely onto the circle on the filter paper. Use
Syringe collection of blood for application onto a blood standard pediatric venous collection procedures.
spot collection card is not recommended because time Collect the required number of uniform blood spots.
delays may allow for clot formation and settling of cells Failure to collect the appropriate number of blood spots
producing heterogeneous specimens since anticoagulants might result in the sample being unsatisfactory for analysis
are not used. due to insufficient blood.
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Dorsal hand vein collection (not the method of choice) 3. All transferred infants must be screened at any age
• Test results might be affected by blood from different after admission to NICU/SCU. "
vessel sources
• Hand veins might be needed for IV fluids 4. Screen all infants at least twice if hospitalised more
• Venous sampling is more invasive than a heel stick. than 7 days. Order another screen prior to discharge or at
28 days, whichever comes first. "
5. The assigned neonatologist at NICU/SCU should

Umbilical Venous Catheter (UVC) or check with the NSO co-ordinator for newborn screen
Umbilical Arterial Catheter (UA C) results at 7 days and prior to discharge. Make sure
screening was done, report(s) received, and no repeats
Although not the method of choice, blood collected from are needed."
umbilical catheters is acceptable in certain situations (e.g.,
sick infants or in very low birth weight infants). Although 6. The NSO neonatologist should communicate the
unknown, it is reasonable to expect that there might be positive result to the assigned neonatologist at NICU/
some difference in analytic test results between blood SCU."
taken from the heel and that collected by umbilical
catheters. 7. The assigned neonatologist at NICU/SCU should
Drawn 2cc blood from the line in order to clean it before watch for signs of conditions, even if screening results
the blood is collected for testing purposes. are normal. "
After cleaning the line, collect blood in an anticoagulant-
free syringe and immediately apply appropriate volumes to
the printed circles on the blood spot collection card. It is Specimen handling after collection:
important that the blood transfer be as quick as possible to
avoid blood clotting that might invalidate the specimen for After application to the blood spot collection card, avoid
testing. Collect the required number of uniform blood touching or smearing the blood spots.
spots. Allow the blood specimen to air dry at an ambient
temperature of 15°C to 22°C, on a horizontally level,
non-absorbent, open surface for at least three hours.
Recommendations apply to all neonates Keep the specimen away from direct sunlight (indirect
receiving intensive care: room light is not usually detrimental unless accompanied
by heat).
Blood spots on the filter paper should not be heated,
1. The Nurse in-charge in NICU/SCU should collect the stacked, or allowed to touch other surfaces during the
newborn screen by heel-prick. " drying process.
2. Time of collection: Collect the initial newborn screen" Since cross-contamination between specimens might
a. Collect before treatment (antibiotics, steroids, parenteral occur, specimen-to-specimen contact is not appropriate.
nutrition) is started or transfusion given, even if less than Once the blood is fully dried, Specimens should be sent
24 hours, unless medically indicated. Otherwise, collect at to NS laboratory by the appropriate delivery method .
24-48 hours. "
b. If the initial screen was collected at less than 24 hours,
order another newborn screen collection at 48 hours to 7
It is critical that NSO receives the newborn screening
days at the latest. "
specimen card as soon as possible after the blood spots
c. Arrange for additional collection if infant was transfused
are collected. Therefore, the cards should be sent no
prior to initial screen."
later than 24 hours after collection, and ideally, as soon
as the blood spots are dry (4-6 hours after collection).
DO NOT BATCH NEWBORN SCREENING SAMPLES.
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Common Errors in the completion of the 2. Assuring adequate transport of newborn screening
newborn screening blood spot collection samples according to Transport Guidelines.
card:
3. Delivering newborn screening samples to the assigned
newborn screening laboratory staff at Kuwait Medical
1. Missing critical data fields (e.g. missing date of Genetics Centre with registration of details of each
collection or date of birth) received samples, total number of sample received and
• Please ensure all fields on the card are completed time of receiving of samples in registration book.
prior to sending the sample to NS laboratory
Proper packing of dried-blood spot specimens:
2. Entering in the incorrect date of collection when a
sample is collected close to midnight 1. Proper packaging and labelling notifies employees and
transportation personnel of package’s contents. Once
3 Using expired blood cards DBS are completely dry, fix them on alternating sides so
that blood spot cards from different patients are not
• Prior to obtaining the sample, please check that the blood touching each other. Pack 10-15 blood spot cards in
spot collection card is not expired. The expiry date is recommended paper envelope.
located in the upper right hand corner of the card next to
the image of an hourglass, under the circles for the blood. 2. Avoid packaging of DBS specimens in plastic, foil
The expiry date is in a year month format (i.e. 2012-05). bags, or other airtight, leak-proof sealed containers. Lack
of air exchange in the inner environment of a sealed
container causes heat to buildup and moisture
accumulation. Heat, direct sunlight, humidity, and
moisture are also detrimental to the stability of DBS
Note : specimens and to analyte recovery. The inclusion of
Samples received at NSO. laboratory greater than 14 desiccant packs with the primary cold (ice bag) container
days after collection are unsatisfactory, however, they will aid in preventing moisture accumulation.
will be analyzed. If the results are “screen positive” for
any disease, this will be reported. The quality of the Checking validity of dried-blood spot specimens for
results cannot be assured due to possible sample testing:
degradation resulting from the length of time since
collection and a repeat sample will be requested. Dried-blood spot specimens arrived at Newborn
Screening Unit. Kuwait Medical Genetics Centre, first
examined for validity of testing according to the
standards protocol. Each blood card should be examined
for collection quality and possible damage and a note
should be made of any poor quality samples. Specimens
invalid for testing are returned back to the sender."
Data registration for dried-blood spot specimens:
Dried-blood spot specimens arrived at Newborn

Screening lab. Kuwait Medical Genetics Centre should
be registered in delivery book for each hospital with
signature of the receiving technician with time and date
Transport Guidelines for Dried-Blood of delivery." All arrived DBS specimens are registered in
Spot Specimens! Newborn Screening database system"
Role of the Newborn Screening Specimens transport
personnel : Transportation of the positive screen results:
1. Receiving newborn screening samples from the
assigned nursing staff at NSO with registration of details All results should reach NSCTL at Sabah hospital from
of each of received samples, total number of sample Newborn Screening lab at KMGC for further discussion
received and time of receiving of samples in registration with the whole biochemistry team.
book.
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Unsatisfactory specimens for specimen quality reasons

When each specimen is received and accessioned in the Newborn Screening laboratory, it is
reviewed for specimen quality and quantity. Unsatisfactory specimens are identified and a repeat
specimen is requested.
A satisfactory The blood must fully soak through to the back of the filter
newborn screening paper. No areas of white should be visible on the front or
specimen back of the circle.
It is estimated that 75 uL – 100 uL of blood is required to fill
one circle on the filter paper. The newborn screening test #
calculations assume that the blood is evenly distributed
within the circle and completely saturates both sides of the
filter paper.
Quantity of blood Circles not sufficiently filled. Although the blood has soaked
insufficient through to the back of the card, the volume is not sufficient
for testing.
#
The specimen appears sufficient from the front but is
insufficient when viewed from the back.
#
Both sides of the filter paper should be examined to assure
that the blood has uniformly penetrated and saturated the
paper.
Please do NOT apply blood to both sides of the card.
Failure to collect the appropriate number of blood spots may #
result in the specimen being unsatisfactory for analysis due
to insufficient blood
Blood spots appear If you are using a capillary tube or butterfly to collect the
scratched or blood specimen, do not allow the capillary tube or butterfly
abraded to touch the filter paper to avoid damaging the filter paper
fibers. Actions such as “coloring in” the circle, repeated
dabbing around the circle, or any technique that might #
scratch, abrade, compress, or indent the paper should not be
used. Do not use the infant’s heel to attempt to force the
blood through to the back side of the blood spot collection
card. This may damage the fibers of the filter paper. These
actions may lead to compression of the filter paper and
inaccurate blood volume collection.
Blood spots are wet Do not allow water, feeding formulas, antiseptic solutions,
and/or discolored glove powder, hand lotion, or other materials to come into
contact with the specimen card before or after use. Ensure
that the infant’s heel is dry and free of alcohol prior to
performing the heel stick. #
Blood spots are Repeated application of blood in the same area or super
supersaturated saturation of the filter paper may lead to an excess volume of
blood being analyzed during testing, potentially resulting in
false negative or false positive screening results.
#
22 of 86
S p o t s a p p e a r Ensure that the puncture site is clean and dry before

diluted collecting the specimen. Protect the specimen during the
drying process.
Blood spots exhibit Excessive milking or squeezing the puncture may cause
serum rings hemolysis of the specimen or result in a mixture of tissue
fluids
with the specimen which can adversely affect the test result.
#
Blood spots clotted Applying successive drops of blood to already partially

or layered dried spots causes “layering” and inaccurate blood
volume collection, which results in non-uniform analyte
concentrations.
#
Blood spots delayed The blood spot collection cards arrived in a wet or damaged
in transit envelope.
Unsatisfactory specimens due to missing To identify samples which to reject NS laboratory use check
demographics list to confirm acceptability of samples :
All fields on the blood spot collection card should be filled

in as completely as possible. A complete newborn screening
report cannot be issued if certain critical fields are not
completed.
Critical fields:
Please ensure that the following fields on the newborn
screening requisition are completed:
• Mother information,
• The infant’s date of birth,
• The date of specimen collection,
• Birth weight,
• The Submitting NSO,
• Gestational age.
Failure to provide all information on the card may

result in delays in retrieving an infant who screens
positive or may make interpretation of the results
more difficult.
Once notified of an unsatisfactory specimen. The NS

laboratory should attempt to communicate the need for a
repeat specimen to NSOs .
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Notification of positive screens: 10. Confirmatory report will be sent from NSCTL at
Sabah hospital to NSO at the KMGC
1. If the result is normal do not contact the parents
and no further intervention is required. 11. NSO laboratory at the KMGC will send the final
report to co-coordinator at NSO hospitals by telephone,
2. If the result is positive or equivocal, the coordinator email, fax and a hard copy to be attached to medical
at the newborn screening unit at KMGC should contact record.
the co-coordinator at Newborn Screening Office (NSO)
by phone, email and to send the result by fax, after 12. The data entry personnel in newborn screening unit at
senior clinical biochemist authorization uses NBS KMGC should receive and enter the data into the
Report form. software data registry system for newborn screening.
3. The coordinator at the NSO should contact the 13. Annual report should be submitted by the newborn
parents bringing their baby for assessment and to screening unit at KMGC to Newborn Screening
initiate the confirmatory tests. Committee and a copy to the Pediatric Council.
4. For positive DELFIA screen the coordinator of NS Missed newborn screens

lab. at KMGC should :
We hope to have network system that link to registry
i. Retest the same sample if the result is borderline. If system of the newborn in Kuwait which make us alert
the retested sample is borderline inform the NSO with any infants exceed 14 days without screen, also can
coordinator. give data about newborn screen declined by family ,
ii. Inform the NSO coordinator to take a confirmatory incorrect date of birth entered at birth , missed infant by
testing, if the result is significantly high human mistake
5. For positive Tandem MS screen the coordinator of Newborn screening education for health
NBS lab at KMGC should:
i. Retest the same sample for all the positive in care providers
duplicate at KMGC lab.
ii. Inform the NSO coordinator, according to the Education about newborn screening is vital to the success
protocol of retesting. of the program. It is recommended to provide orientation
about newborn screening to all new employees, including
6. The co-coordinator at (NSO) should contact the review of this manual.
responsible specialist (Inborn error of metabolism
(IEM)/ Endocrinologist) to inform about the baby’s
clinical status and to initiate the required confirmatory Newborn screening education for parents
tests.
Parent education is essential to successful newborn
7. The nurse of NSO should collect the confirmatory screening. Informed parents are better able to understand
tests (second filter paper, urine or plasma) (Appendix screen positive results and the next steps in the process. In
5) addition, informed parents may experience less anxiety
associated with a repeat test request for an unsatisfactory
8.The confirmatory sample should be accompanied sample.
with a request form clearly showing the positive
screening result and with the official stamp for
confirmatory testing. Education materials available
9. The coordinator at the NSO should send the - Arabic brochure for parents
confirmatory samples to NSCTL at Sabah hospital or
relevant confirmatory labs. - English brochure for parents
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Privacy and confidentiality

Kuwait National Newborn Screening Committee Therefore storing samples for this length of time
maintains the privacy and confidentiality of the health would allow investigation and possible re-testing if a
information and dried blood spot samples it receives. child was diagnosed with one of the conditions on our
Some parents may have concerns about the use of their panel following a negative newborn screen. It would
children’s health information or secondary uses of the also allow confirmation of whether or not a screening
dried blood spot samples. Accordingly, health sample was obtained on the child.
information provided to NSO (including screening
results) may be used for the following purposes:
• To provide care.
Personal health information is used
by care providers and trainees who are part of a child’s
health care team. Use of the dried blood spot samples
• To teach. Occasionally, the dried blood spot samples may be

A child’s information may be used to support used for other purposes after testing is finished. These
our partnership with the Kuwait Board of biochemistry include:
and pediatric medicine , while adequately protecting
their privacy. • Quality control and quality assurance within the NBS
laboratory;
• To conduct research and compile statistics.
Researchers may use health information while working • Retesting the sample to help make a diagnosis when
on a study approved by the Kuwait Ministry Of Health requested by NSO
Research Ethics Board.
• After a legal warrant if the infant has died
• To improve the care unexpectedly
we provide by conducting quality improvement and
risk management activities. • For other testing at the parent written request;
• Samples may be used for research approved by a

research ethics board if all identifying information has
Storage of the dried blood spot samples been removed so it is impossible to link an individual
with the research results and written consent taken
Dried blood spot samples are stored in a secure facility from the parents
for 6 months, as they are a part of a child’s medical
record. After 6 months, the samples are destroyed.
NSO laboratory regularly checks the screening cutoffs
and the stored samples assist NSO laboratory in
performing this task. If a infant with a negative
newborn screen is diagnosed with one of the diseases
screened, the infant’s stored sample can be re-tested.
This helps NS laboratory assess why the infant was
missed in the newborn period, and potentially stops the
same thing from happening again in the future.
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Overview of NSO process

Re-punched samples:
It is a responsibility of NSO to ensure that all infants
born in Kuwait are offered the newborn screening test . Specimens may be unsuitable for several reasons:
A small sample of blood from the newborn is collected • Machine malfunction
on a special paper card and then sent to the NSO • QC issues
laboratory for testing. Parents may decline screening, • Instrumental flags
and NSO should discuss this decision with parents and • Equivocal results of unknown reason
document dissent by parents. While, as with many In these situations, the sample will typically be re-
standard medical practices, there is no formal punched singly and processed for the specific analyte
document for consent, NSO provide education to • Specimens flagged as an initial positive are re-
ensure information is available to parents to make punched in duplicate for confirmation and reported out
informed decisions for their infants. the following day.
It is important that antenatal health care provider and Exceptions where an abnormal result will be re-
prenatal educators discuss newborn screening with evaluated for confirmation on the same day of initial
prospective parents. Pamphlets in multiple languages analysis include very provocative results for disorders
Arabic/English are provided by KNNSC to NSO. where the delay in diagnosis may have catastrophic
consequences
KNNSC provides the transportation system for
samples to be submitted from NSO for analysis in the Data entry
laboratory. Data from the submitted card is entered into Data entry clerks are responsible for entering
the screening information system. demographic information into the NSO database on
The screening tests are performed and the results are every infant whose sample we receive. In order to
interpreted by biochemistry consultant in Sabah ensure accuracy. This information includes the infant
laboratory to determine whether the risk that an infant and mother’s name the submitting hospital/ doctor/ and
has a targeted disorder is high or screen negative contact information for the infant’s mother. In the
event that an infant screens positive, this information
Newborn screening laboratory are separate from any allows the NSO to contact the family immediately to
other laboratories and are located in Kuwait Medical arrange further testing. If any critical information is
Genetic Center at Ghanima Ahmed Alghanim center in missing, a data entry clerk contacts the submitter to
Maternity hospital of Sabah health region. obtain the missing information. The NSO data entry
team aims to enter all information on the same day that
Sample are received daily in NSO laboratory at a specimen is received , this can be up to 400
KMGC from 08:00 am to 02:00 pm and in holidays specimens daily.
from 08:00 to 01:00 pm
All specimens received are assessed for quality and
quantity for subsequent entry into the NS database Screening methodology
Blood cards suitable for analysis are bundled into Procedure for amino acid and acylcarnitine analysis
groups of 78 and passed on to the technicians in charge
of punching on the multi-puncher. by Tandem Mass Spectrometry
Scope or principle:
There are a variety of metabolic inherited diseases that
result in changes in the metabolism and transformation
Blood spot punching: of amino acids. A large number of amino acids are
A “punch” is an excised circle of blood which is quantitatively analysed using Tandem Mass
subsequently used for sample analysis. All samples are S pectrometry (TM S ) w ithout the need for
punched into Microplates that are designated for a chromatographic separation. By forming butylated
specific method/procedure. The minimum number of derivatives of the free carboxylic acid group(s) using
punches required for a collection to be of sufficient positive electrospray (ESI+), charged specimen are
quantity is currently 7. This may increase as the newborn created allowing the analyte to be detected in the mass
screening panel expands. NSO uses 3.2 mm punches, spectrometer. TMS offers an efficient method that has
which are taken from the blood spot collection card. proven to be relatively fast, simple and specific for
amino acids.
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There are a variety of metabolic disorders characterized DELFIA :

by organic aciduria. Some disorders involving fatty acid
oxidation defects may present with non-specific organic Dissociation-Enhanced Lanthanide Fluorescent
aciduria or an uninformative profile when the patients Immunoassay) is a robust, high-performance
are asymptomatic, especially in the newborn period. immunodetection platform that provides a combination of
Difficulty in identifying asymptomatic children benefits that make it the superior alternative to
necessitates the identification of specific metabolites conventional ELISA. DELFIA utilizes the unique
characteristic of these inherited diseases. Acylcarnitines chemical properties of lanthanide chelates in concert with
have been identified as being specific indicators for time-resolved fluorescence (TRF) detection to create an
some of these metabolic disorders. Since acylcarnitines assay that offers high sensitivity, wide dynamic range,
are highly polar non volatile compounds, GC-MS, which superior stability, and excellent flexibility. Given the
depends on sample volatilization, is an inefficient robust nature of DELFIA technology and the advantages it
technique for the analysis of such compounds. Therefore holds over traditional ELISA.
a method for acylcarnitine profiling and quantitation
using ESI+ with TMS has been developed.For example
Hepatorenal tyrosinemia (HT) is an inborn error of
metabolism that affects a number of organs including
liver, kidney and bone. The clinical presentation is Clinical note
variable.
Abnormal TSH results at <24 hrs of age
Neonatal by DELFIA system
• 17α-OH-Progesterone TSH is commonly elevated in infants less than 24
• Thyroid stimulating hormone hours of age. If an infant has an elevated TSH on a
• Biotinidase enzyme sample taken at less than 24 hours of age, newborn
• Galactose transferase enzyme screening laboratory informs the NSO immediately and
requests a repeat newborn screen. If a normal repeat
screen is received and is screen negative for congenital
hypothyroidism, the infant does not need to be referred
as screen positive
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Disorders Appearance of Risk of Screening Factors causing false Factors causing false
symptoms crisis time positive results negative results
• TSH surge in first • delayed rise of

first year of life, 12-24 hours TSH in affected
Congenital early treatment 12 - 72 hr and • topical iodine on baby • infants, particularly
hypothyroidism prevents mental 2 - 6 weeks or breastfeeding if preterm
retardation, mother (immature
developmental • maternal hypothalamic-
delays hyperthyroidism pituitary-thyroid
treated with axis)
propylthiouracil, • dopamine therapy
• acute illness until (suppresses
recovered • TSH)
• iodine deficiency • steroid treatment
(suppresses TSH &
T4)
yes • preterm birth or LBW • maternal steroid
Congenital first week of life 12 - 48 hr and • sick or stressed infant treatment steroid
adrenal 2 - 4 weeks • mother with CAH and (dexamethasone)
hyperplasia elevated treatment in infant
• 17-OHP
• early collection (<24 hr
of age)
• heat with humidity • transfusion of
Biotindase 1 week – 10 birth - 72 hr damage to specimen plasma or other
years of age • prematurity blood products
(most show • liver disease
Symptoms • , jaundice
between 3 – 6
months of age)
yes • heat damage to • red blood cell
Galactosemia first week of life birth - 48 specimen, transfusion
hours • age of specimen
(received by lab more
than 4 – 5 days after
collection)
6 - 8 months of • parenteral nutrition • early collection
PKU age • liver dysfunction or (<24 hours of age)
(irreversible 24 - 48 hours immaturity or collection only a
brain • maternal PKU or few hours after
damage hyperphe uncontrolled transfusion or
happens if by diet or medication discontinuation of
treatment is not ECMO
started in first
weeks
of life)
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yes • parenteral • early collection (<24

MSUD first two weeks of nutrition hours of age) or
life 24 - 48 hours • liver dysfunction collection only a few
or immaturity hours after transfusion
or discontinuation of
extra corporeal
membrane oxygenation
3 - 7 days • parenteral • early collection,

HCY nutrition pyridoxine responsive
• liver dysfunction cases are not
or immaturity identified by NBS
yes 24 - 48 hours • parenteral • early collection or

CIT & first two weeks of nutrition collection only a few
ASA life • liver dysfunction hours after transfusion
or immaturity or discontinuation of
extra corporeal
membrane
oxygenation
3 – 4 months of more than 1 • liver dysfunction
TYR 1 age week of age or immaturity
(liver is damaged
by
that time)
first few days to yes • carnitine
FAO months or years supplementation,
disorders (more easily MCT oil
detected during birth - 48 • fatty liver of
acute illnesses or hours pregnancy or
during times of HELLP
increased energy syndrome* can
need) cause elevated
even chain
acylcarnitines
MCD, yes maternal Vitamin

MMAs, 24 - 48 hours B12 deficiency
PA
Organic yes parenteral nutrition
acid first two weeks of 24 - 48 hours
disorders life
IVA first two weeks of yes 24 - 48 hours pivalic acid
life antibiotic therapy
3MCC yes 24 - 48 hours asymptomatic

mother with
3MCC, unaffected
infant
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Special consideration that affect the results of screening:

1. Transfusions
The first newborn screening test should be collected prior to any transfusion, This is necessary to avoid
false negative results for many disorders. Any transfusion of red blood cells (whole blood, packed RBCs
or ECMO) can cause false negative results for galactosemia and this effect lasts until the donor red blood
cells have been replaced (3 – 4 months after the last transfusion). Re-screening then would be necessary
unless a previous screen had been collected prior to transfusion.
Note that for galactosemia a specimen collected prior to 24 hours of age is valid and yields reliable results.
Transfusions of whole blood (or plasma,) can cause false negative results for all screened disorders for 4 –
72 hours after the transfusion (except for galactosemia the effect lasts for 3 – 4 months).
2. Parenteral Nutrition (PN)

Parenteral nutrition can cause false positives for amino acids and fatty acids. Multiple amino acid
abnormal results can be an indication of excess free amino acids from the parenteral nutrition solution or
liver problems (immature enzymes or illness so that liver enzymes can’t handle the amino acids fast
enough to prevent a rise in amino acid concentration in the blood). Medium chain fatty acids are also
added to parenteral nutrition solutions and can be present in higher amounts in the blood. Prolonged PN
can lead to carnitine depletion. A false positive result for IVA (elevated C5) is also possible. A repeat
screen should be collected 24 – 72 hours after PN is stopped, if a previous screen had abnormal results.
3. Maternal Conditions
• A mother with hyperthyroidism treated with antithyroid agent can deliver a baby with transient
hypothyroidism (elevated TSH on the newborn screen). Positive results will occur until the drug
clears the newborn’s system - between 7-14 days after birth. A repeat screen or other thyroid
testing should be done around two weeks of age.
• A mother with CAH can deliver a baby with a false positive result for 17-OHP. The newborn
should be re-screened between 3 and 7 days after birth.
• Transient hyperphenylalaninemia in the newborn is a result of a mother with uncontrolled PKU
(high phenylalanine levels). This effect will normalize within 12 – 24 hours, unless the baby also
has PKU.
• A mother treated with steroids during pregnancy can deliver a baby with a false negative result for
CAH since steroids can suppress fetal adrenal function. The length of the effect depends on the
class of steroid and the dose, and is unknown but estimated at 1 – 2 weeks after birth. A repeat
screen done later than 2 weeks of age would be needed.
• Maternal carnitine or Vitamin B12 deficiencies can cause false positive results for C0 (carnitine)
and C3 (Vitamin B12). The effects can last several days depending on the nutrition provided to the
newborn (for B12 deficiency) – the duration of the effect of carnitine deficiency is unknown).
• Carnitine supplementation can cause false negative results for C0 during supplementation and for
some weeks afterwards. It can also cause false positives for other acylcarnitines. This effect lasts
approximately 4 days.
• A mother with 3MCC can have an unaffected baby with elevated C5OH. The duration of this false
positive effect is unknown.
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4. Sick or stressed infant

A sick or stressed newborn can have elevated 17-OHP (false positives for CAH) until recovered. Liver
disease and jaundice can cause false positives for many disorders ( tyrosinemia, homocystinuria, PKU,
biotinidase deficiency )
5. Preterm or low birth weight infant

• Elevated tyrosine and 17-OHP and low biotinidase are common results for preterm or low birth
weight babies (false positives for tyrosinemia, CAH and biotinidase deficiency).
• False positives for amino acids disorders are a result of immature liver enzymes.
• A false negative result for hypothyroidism caused by an immature hypothalamic/ pituitary/thyroid
axis where TSH does not rise in response to low T4 levels can last for more than a month after
birth. Since the newborn screen now measures only TSH, this possibility should be considered for
all preterm and low birth weight babies, even though the hypothyroidism is usually transient.
6. Steroid or antibiotic treatment

• Dopamine therapy suppresses TSH and can cause false negative results for hypothyroidism until
the drug is discontinued.
• Steroid therapy (including dexamethasone) suppresses TSH and can cause false negative results
for hypothyroidism as well as false negative results for CAH. This effect can last for 1 to 2 weeks
after therapy has been stopped.
• Antibiotics conjugated with pivalic acid (for example, pivampicillin) can elevate C5 (false
positives for IVA). This effect lasts until the drug clears the baby’s system (at least 24 hours after
discontinuing therapy).
7. Early collection (prior to 24 hours of age)

• False positives for hypothyroidism and CAH are possible because of the normal hormone surge
after birth.
• False negatives for amino acidopathies and organic acid disorders are possible with early
collection but specimens collected shortly after 24 hours of age are reliable.
8. Late collection
• Collection of a first screen after 48 hours of age can show false negative results for fatty acid
oxidation disorders. A well fed state can mask indications of a FAOD so it is important that a first
screen be collected between 24 and 36 hours if at all possible.
• If a baby has an abnormal result for any FAOD on a first screen and then has a normal result on
the second, that second result cannot be taken to mean that the baby had a false positive on the
first screen. All babies with abnormal results on first screens should have diagnostic testing done
to confirm or rule out the possibility of a disorder even though their second screen is “normal.”
Very few false positive results for fatty acid oxidation disorders ever occur.
• Late collection is also not helpful in identifying disorders that have early crises since results will
not be available when symptoms start to appear. Disorders which can have serious consequences
if not diagnosed early include galactosemia, MSUD, salt-wasting CAH, urea cycle disorders,
organic acid disorders and some fatty acid oxidation disorders.
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Kuwait National Newborn Screening Panel of 22 Disorders

These are the original core disorders of the recommended by Kuwait National Newborn
Screening Committee (KNNSC).
Early identification and lifelong treatment of these disorders can help to prevent many of the
harmful consequences of the disorders and in many cases affected babies can grow and develop
normally.
Endocrine Disorders (2 disorders)
Endocrine disorders occur when one or more of the body’s hormones cannot be produced while
others are overproduced. Hormones regulate metabolism and are necessary for the normal
function of the body’s organs.
Congenital hypothyroidism (CH)

• A common*, endocrine condition resulting from deficient thyroid hormone secretion. It is not
often an inherited condition and is most commonly caused by a failure of the thyroid gland to
develop properly.
• If undetected, developmental delays, poor growth and mental retardation develop before
diagnosis is made and most of this damage is not reversible with treatment. A newborn with CH
may have feeding problems, lethargy, hypotonia, jaundice and constipation.
• Treated with daily oral doses of thyroid hormone. If treatment begins by two weeks of age a
baby can develop normally.
• Risk of this disorder is detected by an immunoassay for elevated thyroid stimulation hormone
(TSH).
Congenital adrenal hyperplasia -21-hydroxylase deficiency (CAH)

• A relatively common*, inherited group of disorders (autosomal recessive) marked by deficiency
or absence of one or more enzymes essential to the production of adrenal cortex hormones. The
enzyme involved most commonly is steroid 21-hydroxylase. This results in the inability to
synthesize cortisol, aldosterone or both and also results in an overproduction of adrenal
androgens.
• Symptoms include ambiguous genitalia in girls and in the salt-wasting form of the disorder,
vomiting, dehydration, electrolyte imbalances (hyponatremia and hypokalemia), hypotension,
shock and even death within 2 weeks of birth.
• Treated with hormone and electrolyte replacement with possible surgery for virilized females.
Early treatment can prevent salt-wasting crises and growth and development problems.
• Risk of this disorder is detected by an immunoassay for elevated 17α- hydroxyprogesterone
(17-OHP).
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Amino Acid Disorders (6 disorders)

Amino acidopathies are disorders of amino acid metabolism that occur when enzymes needed to
break down specific amino acids or eliminate nitrogen from the body are deficient or absent.
Toxic levels of amino acids or ammonia accumulate and cause brain damage and even death.
• A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme,
phenylalanine hydroxylase, necessary to break down phenylalanine, is missing or not working
properly.
• Without early detection and treatment, permanent mental retardation, behavioral problems and
eczema develop after a few months. Newborns with PKU seem healthy and symptoms do not
appear until irreversible damage has been done.
• Treatment is a low protein diet with most protein provided in a phenylalaninerestricted formula.
If treatment is started early, babies develop normally and have normal IQ.
• Risk of this disorder is detected with elevated phenylalanine by MS/MS.

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, branched
chain ketoacid dehydrogenase, necessary to break down ketoacid derivatives of leucine,
isoleucine and valine, is missing or not working properly.
• Symptoms develop within the first week of life - feeding intolerance, vomiting, lethargy and
progress to irreversible mental retardation, seizures, coma and death.
• Treatment is a low protein diet with most protein provided in a formula restricted in branched-
chain amino acids and dietary monitoring to prevent metabolic crises.
• Risk of this disorder is detected with elevated leucine by MS/MS.
Classical Homocystinuria (CHCY)

• Also called cystathionine β-synthase deficiency or CBS deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
cystathionine β-synthase, necessary to break down methionine, is missing or not working
properly.
• Symptoms develop slowly and include developmental delay, mental retardation, skeletal
abnormalities (marfanoid appearance), osteoporosis, blood clots and dislocated lens in the eye.
• Treatment is a low protein diet with most protein provided in a methionine restricted formula.
Vitamin B6 may be given along with other vitamin supplements.
• Risk of this disorder is detected with elevated methionine by MS/MS.
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Citrullinemia (CIT 1)
• A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme,
argininosuccinic acid synthetase, necessary to excrete the nitrogen from amino acids as urea, is
missing or not working properly.
• Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss
of appetite, lethargy, hypotonia and vomiting and progress to seizures and coma. Prolonged
periods of hyperammonemia can cause brain damage (intellectual disability).
• Treatment is a low protein diet and special formula, supplementary arginine and other
medications along with avoiding going without eating for very long.
• Risk of this disorder is detected with elevated citrulline by MS/MS.
Argininosuccinic acidemia (ASA)

• Also called argininosuccinic aciduria or argininosuccinyl-CoA lyase deficiency.
• A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme,
argininosuccinyl-CoA lyase, necessary to excrete the nitrogen from amino acids as urea, is
• Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss
of appetite, lethargy, poorly controlled breathing rate or body temperature, hypotonia and
vomiting and progress to seizures and coma. Prolonged periods of hyperammonemia can cause
brain damage (intellectual disability) and developmental delay.
• Treatment is a low protein diet and special formula, supplementary arginine and other
medications along with avoiding going without eating for very long.
• Risk of this disorder is detected with elevated citrulline by MS/MS.
Tyrosinemia Type 1 (TYR 1)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
fumarylacetoacetate hydrolase, necessary to break down tyrosine, is missing or not working
properly.
• Symptoms develop in the first months of life but are not present immediately after birth.
Untreated, a baby with tyrosinemia will develop liver disease (enlarged liver, jaundice, cirrhosis)
and kidney damage leading to death. Early symptoms include lethargy, vomiting, diarrhea,
irritability and failure to thrive.
• Treatment includes medication, a diet low in tyrosine and phenylalanine and possibly a liver
transplant.
• Risk of this disorder is detected with elevated tyrosine by MS/MS.
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Fatty Acid Oxidation Disorders (4 disorders)

Fatty acid oxidation disorders (FAODs or FODs) occur when fatty acids cannot be completely
metabolized to produce energy because of defects in enzymes needed for this conversion. When
the body’s supply of glucose and glycogen are expended, fatty acids are broken down to supply
energy during periods of fasting or increased energy demands (fever, stress). Different defects in
the fatty acid oxidation pathway prevent the complete breakdown of fatty acids to produce energy
and a sudden crisis occurs which can leave an affected infant or child dead or with brain damage.
These conditions can yield false negative results if screening occurs after a baby is well fed.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

• A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme,
medium chain acyl-CoA dehydrogenase, necessary to break down fatty acids of medium chain
length (4 to 12 carbons long), is missing or not working properly.
• Symptoms present acutely with fasting and include hypoketotic hypoglycemia, vomiting,
lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly and death.
• Avoiding fasting (frequent feedings) and a low-fat diet can prevent metabolic crises.
• Risk of this disorder is detected with elevated C8 by MS/MS.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, very long chain
acyl-CoA dehydrogenase, necessary to break down long chain fatty acids (12 to 18 carbons long),
is missing or not working properly.
• Symptoms present acutely with fasting and include hypoketotic hypoglycemia, cardiomyopathy
in many cases, vomiting, lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly
and death.
• Avoiding fasting (frequent feedings) and a low-fat diet (supplemented with MCT oil and
cornstarch), can prevent metabolic crises.
• Risk of this disorder is detected with elevated C14:1 by MS/MS.
Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, long chain
L-3-hydroxyacyl-CoA dehydrogenase, necessary to break down certain fatty acids (between 12
and 18 carbons long), is missing or not working properly.
• Symptoms include hepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia.
• Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and
supplemented with MCT oil and cornstarch), can prevent metabolic crises.
• Risk of this disorder is detected with elevated C16OH by MS/MS.
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Trifunctional protein deficiency (TFP)

• Also called mitochondrial trifunctional protein deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when a protein containing
three enzymes (long chain 3-hydroxyacyl-CoA dehydrogenase, long chain enoyl-CoA hydratase
and long chain thiolase) necessary to break down long-chain fatty acids is missing or not working
properly.
• Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and
supplemented with MCT oil and cornstarch), can prevent metabolic crises.
Organic Acid Disorders (8 disorders)

Organic acidemias (OAs) are a group of inherited metabolic disorders that occur when certain
enzymes involved in the breakdown of amino acids and other substances are not functioning
properly. Toxic acids build up in the blood and spill into the urine (metabolic acidemia). Without
treatment and prevention of acute episodes, these disorders can lead to coma and death during the
first days or weeks of life.
Isovaleric acidemia (IVA)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, isovaleryl-
CoA dehydrogenase, necessary to break down leucine, is missing or not working properly.
• Symptoms include metabolic ketoacidosis, poor feeding, vomiting, dehydration, lethargy, rapid
shallow breathing, “sweaty feet” odor, hyperammonemia, coma and death.
• Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
Glutaric acidemia type 1 (GA-1)

• A relatively rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
glutaryl-CoA dehydrogenase, necessary to break down lysine, hydroxylysine and tryptophan, is
• Affected infant is usually macrocephalic with later signs of metabolic ketoacidosis (during
periods of fasting or illness, which can progress to coma and death), failure to thrive,
irritability, hypotonia, poor balance and coordination and neurological problems.
• Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
• Risk of this disorder is detected with elevated C5DC by MS/MS.
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3-Hydroxy-3-methylglutaric aciduria (HMG)

• Also known as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or HMG-CoA lyase
deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-
hydroxy-3-methylglutaryl-CoA lyase, necessary to break down leucine, is missing or not working
properly.
• Symptoms usually appear during the first year of life and include vomiting, diarrhea, lethargy,
hypotonia and metabolic acidosis (during a period of fasting or illness) which can lead to coma
and death.
• Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C5OH and C6DC by MS/MS.
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-
methylcrotonyl-CoA carboxylase, necessary to break down leucine is missing or not working
properly.
• Symptoms usually appear during the first year of life and include lethargy, vomiting, hypotonia,
seizures, developmental delay and metabolic acidosis (during a period of fasting or illness) which
can lead to coma and death.
Multiple carboxylase deficiency (MCD)

• Also known as holocarboxylase synthetase deficiency.
• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, holocarboxylase
synthetase, necessary to attach biotin as a cofactor to certain carboxylase enzymes, is missing or
not working properly.
• Symptoms can appear during the first week of life and include poor feeding, lethargy, vomiting,
hypotonia, skin rash and metabolic acidosis which can lead to coma and death.
• Treatment consists of biotin supplementation.
• Risk of this disorder is detected with elevated C5OH and C3 by MS/MS.
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Methylmalonic acidemia
mutase deficiency (MUT)

• Also known as methylmalonic acidemia, Vitamin B12
• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, methylmalonyl-
CoA mutase, necessary to break down certain lipids, amino acids and cholesterol is missing or
not working properly. unresponsive.
• Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic
ketoacidosis which can lead to coma and death.
• Treatment includes avoiding fasting and a low protein diet to prevent metabolic crises.
cobalamin disorders (Cbl A,B)
• Also known as methylmalonic acidemia, Vitamin B12
• Rare*, inherited disorders (autosomal recessive) that occur with a defect in the synthesis of
adenosylcobalamin, one of the active forms of Vitamin B responsive.
• Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic
ketoacidosis which can lead to coma and death which is needed as a cofactor for methylmalonyl-
CoA mutase, necessary to break down certain lipids, amino acids and cholesterol.
• Treatment includes Vitamin B12 , injections and a low protein diet.
Propionic acidemia (PROP)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, propionyl-
CoA carboxylase, necessary to break down a product of protein and fat metabolism is missing or
not working properly.
• Symptoms usually appear during the first week of life and include poor feeding, lethargy,
vomiting, dehydration, hypotonia and metabolic ketoacidosis which can lead to coma and death.
• Treatment includes avoidance of fasting and a protein-restricted diet to prevent metabolic crises.
Beta-ketothiolase deficiency (BKT)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, β -
ketothiolase, necessary to break down isoleucine, is missing or not working properly. This
disorder also impairs the body’s ability to process ketones, which are produced during the
breakdown of fats.
• Symptoms usually appear during the first year of life and include lethargy, vomiting, seizures,
and metabolic acidosis (during a period of fasting or illness) which can lead to coma and death.
Long term complications include developmental delay, cardiomyopathy and hypotonia.
• Risk of this disorder is detected with elevated C5OH and C5:1 by MS/MS.
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Other Enzyme Deficiencies (2 disorders)
Biotinidase deficiency (BIO)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, biotinidase,
necessary to recycle the vitamin biotin is missing or not working properly. Free biotin is needed
as a cofactor for carboxylase enzymes and if it cannot be freed from its bound form by
biotinidase it is not available to be used as a cofactor.
• Symptoms which usually appear in a few months of age include seizures, hypotonia, hair loss
and skin rashes. Untreated, developmental delays, speech problems, hearing loss and ataxia
develop.
• Treatment is daily supplementation with biotin.
• Risk of this disorder is detected by DELFIA system for biotinidase enzyme (BIO) .
Galactosemia (GALT)
• Also called galactosemia type 1 or classic galactosemia.
• A rare*, inherited disorder (autosomal recessive) marked by the inability to metabolize
galactose because of a deficiency of the enzyme, galactose-1- phosphate uridyl transferase
(Gal-1-PUT), which is needed to convert galactose to glucose.
• Symptoms which start in the first week of life include jaundice, vomiting and feeding problems
leading to failure to thrive or even death. Even with treatment (a diet without any galactose),
many affected children have some development delay or mental deficit, speech or language
problems, cataracts or enlarged liver.
• Risk of this disorder is detected by an enzyme assay for Gal-1-PUT (GALT) and total
Galactose (T.GAL) by DELFIA .
Other Disorders and Incidental Findings

Some of the secondary disorders that have been detected Newborn Screening Program along
with incidental findings (carrier states) include:
• Non-classical CAH
• Hyperphenylalaninemia
• Hypermethioninemia
• Partial biotinidase deficiency
• Galactosemia carrier or Duarte variant galactosemia
• Carnitine palmitoyl transferase deficiency type II (CPT-2)
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Appendix 1
Filter paper for dried –blood spot specimens
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Appendix 2
Referral form for early discharged babies
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Appendix 3
NBS report form for Tandem MS/MS
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Appendix 4
NBS report form for DELFIA
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Appendix 5
Hospital Name Date:
Complete data on collection cards

Valid Collection cards
• Not expired
• Not torn
• Newborn or mother details

• Birth date
• Collection date
• Birth weight
• Gestational age
• Sex
• Parent’s phone
• Hospital informations (use the mailing address and post code
box)
Specimen Quantity sufficient for testing
Specimen Quality valid for testing

• Dry Specimen
• Specimen not scratched or abraded or torn
• No clotting , super saturation or uneven

saturation
• No contamination or serum rings
Specimen < 14 days after date of collection
Sender Newborn Screening Office Staff

Total No. Of Valid specimen sent:
Signature : Date: / / Time:
KMGC Laboratory Staff
Total No. Of Valid specimen received:
Signature : Date: / / Time:
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Appendix 6
Laboratory refusal form
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Appendix 7
Low birth weight and sick newborns guideline
Preterm and/or LBW (<1800 Grams)
Collect 3 samples
1. Initial (at 24-36 hrs of age)
2. At 14 days of age or discharge (if discharged before 14 days
of age)
3. At 30 days of age or at discharge (if discharged between
21-30 days of age)
If the newborn
If the newborn is
requires blood If newborn already receiving
transfusion or TPN received blood continuous blood
before 24 hrs of transfusion or TPN transfusion or TPN
age
Collect sample Collect initial Collect initial sample to

before transfusion or sample to be be repeated 72 hrs after
TPN to be repeated repeated at 14 and discontinuing transfusion
at 14 and 30 days of 30 days of age or at or TPN and at 90 days
age or at discharge discharge post-transfusion
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Appendix 8
Newborn admitted to NICU
Collect prior to treatment, if possible
Normal result Abnormal result

Prior to 24hrs
Collect another Follow Standard

specimen at 2-7 days Discharged Protocol
within 7 days
Normal result Abnormal result
Follow standard Not discharged Verify prior to

Protocol within 7 days discharge
Collect another
Abnormal
Normal result specimen at discharge
result
or at 28 days whichever
is soonest
Verify prior to discharge Follow standard Protocol
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Newborn screening flow chart
At each hospital included in the newborn screening

program
Collection and gathering of Newborn Screening Samples from labor room,

postnatal wards and Newborn Screening Office by the responsible nursing staff
according to the standard protocol for sample collection
Checking the validity of collected samples by the responsible nursing NBS staff
according to the standard check list
Registration of collected Newborn screening samples in standard registration

book by the responsible NBS staff with a copy of list of collected samples
delivered to the Newborn screening co-ordinator
Delivery of samples to the Newborn screening transportation personnel by the

responsible nursing staff with registration in delivery book with list of collected
samples and date and time of delivery
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Newborn screening flowchart
Abnormal Screening Results
Retesting the same filter paper at KMGC
Confirmatory testing in NSCTL at Sabah

Hospital
Consult Specialist
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Newborn screening flow chart
At Newborn Screening Office
Recall of positive screen by the responsible nursing staff
Explanation of importance of newborn screening and screening

results to parents by the responsible neonatologist
Clinical assessment of cases of positive screen
Initiation of confirmatory testing
Referral of confirmed cases to responsible specialist by
Reporting of confirmed cases to KMGC
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At Newborn Screening Flow Chart at KMGC Unit
Delivery of newborn screening samples by transportation personnel to the

responsible Newborn screening laboratory staff with signing in delivery
book with date and time after ensuring the validity of received samples for
testing
Processing of sample for testing
Result of Screening (notified to Newborn screening Co-ordinator at

KMGC)
Normal Result Highly Abnormal Result Abnormal or Borderline Unsatisfactory Specimen

Result
*Available through Phone call ,email and fax Notification the NSO co- Notification the NSO co-
Newborn screening the NSO co-ordinator at the ordinator at the hospital
ordinator at the hospital
ordered screening by phone
electronic database hospital ordered screening ordered screening call email and fax to collect
at KMGC
another sample
Recall the patient Recall the patient and, do If no repeat screen

Hospital admission if required clinical assessment, further reminder to responsible
following clinical assessment, doctor if no response, to
testing and consultation with
immediate further testing and
specialist if needed further follow-up
consultation with specialist
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Appendix 10
Newborn screening order form (KMGC)

Newborn Screening Amount of
Specimen collection Collection
Cards Cards
Newborn Screening Amount of Arabic

Educational Brochures copies
#
Amount of English
copies
#
FAX OR E-MAIL YOUR ORDER Kuwait Medical Genetic Center-Biochemical

TO Screening Laboratory
At Ghanema Al GhanemCenter for Prematures
and Genetics, 2nd floor
Tel.: 24814328-24810563
Fax:24842073
email:[email protected]
Hospital Name: ____________________________________________________

Address:__________________________________________________________
Contact Personnel Name: ___________________Telephone No___________
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Appendix 11
Newborn screening order form (each
Please provide the number of item you are requesting
Amount Needed
Sterile Lancet with tip
(2.0-2.4 mm)
Amount Needed
Powderless Gloves
Amount Needed
Sterile alcohol Prep
Amount Needed
Sterile Gauze Pad
Amount Needed
Paper Envelops (7×10
inches Brown colour
!
Amount of copies
Referral form for early Needed
discharged babies
Amount of copies
Needed
Parental refusal form
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Appendix 12
List of disorders in the newborn screening

Test
Amino Acidemias :
Homocystinuria (Cystathionine synthase def.)
Citrullinemias (ASA synthetase deficiency )
Tyrosinemias (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methyl Malonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA-Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase Deficiency (LCHAD)
Trifunctional Protein Deficiency (TEP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deiciency (3HMG)
Galactosemia
Biotinidase Deiciency
Endocrine Disorders :
Congenital Hypthyrodism
Congenital Adrenal Hyperplasia
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Appendix 13
Newborn screening card replacement form
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‫‪Newborn Screening Manual‬‬
‫‪Appendix 14‬‬
‫‪Parental refusal for newborn screening‬‬
‫إقرار برفض عمل مسح حديثي الوالدة‬
‫على رفضي لعمل فحص‬ ‫اقر أنا املوقع أدناه ولى أمر الطفل‪/‬‬
‫مسح حديثي الوالدة للطفل املذكور علي مسئوليتي الخاصة وذلك رغم نصح األطباء لي بضرورة وأهمية عمل‬
‫مسح حديثي الوالدة‪.‬‬
‫املقر بما فيه‬
‫االسم‪:‬‬
‫التوقيع‪:‬‬
‫الرقم املدني‪:‬‬
‫الطبيب املسئول‪56:‬‬
‫‪56 of 86‬‬
Appendix 15
Newborn Screening sample collection
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Appendix 16
Diagram of invalid specimens
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Appendix 17
Symptoms of screened Diseases
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Appendix 18
Disease summary
Disease Primary Screening Can Treatment
Analyte Prevent…
Measured
Argininosuccinic Acidemia ASA & Citrulline …developmental Avoid fasting , low
(ASA) delay , seizures , coma protein diet , medication
, death
Β-Ketothiolase (BKT) C5OH & C5:1 … brain damage , Avoid fasting , low
Deficency developmental delay , protein and fat diet ,
coma , death medication
Biiotindase Deficency Biotindase … developmental delay Biotin (vitamin)
, hypotonia , seizures , supplementation
skin rash , hair loss ,
death
Citrullinemia Cirtulline … developmental delay Low protein diet , avoid
, seizures , coma , fasting , medication
death
Congenital Adrenal 17-OH … salt-wasting crises , Hormone and mineral
Hyperplasia (CAH) progesterone death replacement
Congenital Hypothyroidism Thyroid … severe and Hormone replacement
hormones irreversible
developmental delay ,
failure to thrive
Galactosemia Galactose -1- … failure to thrive , Galactose restricted diet
phosphate uridyl liver damage , sepsis,
transferase death
(GALT)
Glutaric Acidemia Type I C5DC … developmental delay Avoid fasting , low
(GAI) , spasticity , protein diet , medication
encephalopathy , coma
, death
Homocystinuria Methionine … developmental delay Low methionine diet ,
, lens dislocation , medication , dietary
thrombosis supplementation
3-Hydroxy-3- C5OH & C6DC … brain damage , Avoid fasting , low
methylglutaryl CoA Lyase developmental delay , protein and fat diet ,
Deficiency death carnitine
supplementation
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Disease summary
Disease Primary Screening Can Treatment
Analyte Prevent…
Measured
Isovaleric Acidemia (IVA) C5 … encephalopathy , Avoid fasting , low
neurological damage, protein diet , medication
coma , death
LCHAD Deficiency C16OH … cardiomyopathy , Avoid fasting , diet low
seizures , in long –chain fats
coma , death
Maple Syrup Urine Disease Leucine & .. failure to thrive , Low protein diet , avoid
(MSUD) isoleucine seizures , fasting ,
coma , death
MCAD Deficiency C8 … seizures , coma , Avoid fasting , aggressive
dudden death treatment of illness
3-Methylcrotonyl-CoA C5OH …failure to thrive , Avoid fasting ,
Carboxylase Deficiency seizure , coma , death medications , low
protein diet ,
supplementation
Methylmalonic Acidemia C3 … failure to thrive , Low protein diet , avoid
(mutase deficiency and encephalopathy , fasting ,, vitamin B12
cobalamin defects) coma , death supplementation
Multiiple Carbosylase C3 & C5OH … failure to thrive , Biotin supplementation
Deficency encephalopathy ,
coma , death
Phenylketonuria Phenylalanine …severe and Phenylalanine restricted
irreversible diet , supplementation
developmental delay
Proprioic Acidemia C3 …encephalopathy , Avoid fasting , low
developmental delay, protein diet , medication
coma, death
Trifunctional protein C16OH ..developmental delay Avoid fasting , diet low
Deficiency , failure to thrive , in long chain fats
cardiomyopathy ,
coma , sudden death
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Disease summary
Tyrosinemia Type I Tyrosine and … liver and kidney Special diet , medication
Succinylacetone damage and sequelae ,
failure to thrive ,
cpagulopathy
VLCAD Deficiency C14:1 … developmental delay Avoid fasting , special diet

and failure to thrive ,
hepatomegaly ,
cardiomyopathy ,
coma , sudden death
Legand
Organic acid Immune deficiencies

disorders
Fatty acid Endocrine disorders

oxidation
disorders
Amion acid
disorders
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Appendix 19
General Information Brochure
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Appendix 20
Algorithms
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Appendix 21
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Ownership
Title:
Newborn Screening Operational Policies & Procedures
Policy Code C-
Policy owner: Kuwait National Newborn NN*-01
Screening Committee
Effective Date:
Written by: Kuwait National Newborn
Screening Committee
Revision Date:
Applies to: Staff in neonatal Unit, PNW**,
LR*** and Newborn Screening Office
Staff in different locations, General
Paediatrician ,Nutritionist,Inborn error
of metabolise specialists and
Endocrinologist
Signature
Approval: Kuwait National Newborn
Screening Committee-Chair Date
Signature
Approvals: The Under-Secretary of
Ministry of Health Date
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Kuwait National Screening Committee
Name Signutures
Dr Mona Abdullah Al-Khawari

Pediatric and Neonate Council-Chair, Committee-Chair
Dr Laila Bastaki
Director of Kuwait Genetics centre , Committe-Co-chair
Eng. Farah Dashti

Director of Equipment Directoriate
Dr Ibraheem Al-Muzairi
Director of Central Laboratory Services
Mr. Ashraf Alghout

Head of Accounting-MOH
Dr Neran Al-Naqeeb
Pediatric and Neonate Chair-Adan Hospital
Dr Rima Al-Sawan
Neonate Chair-Farwanyia Hospital
Dr Nawal Al-Kazimi
Consultant Neonatologist-Maternity Hospital
Dr Nawal Makhseed
Consultant Inborn Error of metabolism -Jahra Hospital
Dr Jassem Khalefa Abbas

Senior Specialist, Sabah Hospital Laboratory
Dr Ahmad Al-Saraf
Head of Kuwait Cancer Center Laboratories
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This Policy published and edited by :
Name Signutures
Dr Mona Abdullah Al-Khawari

Pediatric and Neonate Council-Chair Committee-
Chair
Dr Laila Bastaki
Director of Kuwait Genetics centre Committe-Co-
chair
Dr Neran Al-Naqeeb
Pediatric and Neonate Chair-Adan Hospital
Dr Rima Al-Sawan
Neonate Chair-Farwanyia Hospital
Dr Nawal Al-Kazimi
Consultant Neonatologist-Maternity Hospital
Dr Nawal Makhseed
Consultant Inborn Error of metabolism -Jahra
Hospital
Dr Jassem Khalefa Abbas

Senior Specialist, Sabah Hospital
Laboratory
Dr Ahmad Al-Saraf
Head of Kuwait Cancer Center Laboratories
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Abbreviations:
CLSI: Clinical and Laboratory standard Institute
DBS: Dried Blood Spots
KMGC: Kuwait Medical Genetics Center
LR: Labor Room
MOH: Ministry Of Health
NBS: Newborn Screening
NICU: Newborn Intense Care Unit
NNSP: National Newborn Screening Program
NSL: Newborn Screening Laboratory
NSO: Newborn Screening Office
NSU: Newborn Screening Unit
PNW: Post Natal Wards
TPN: Total Parenteral Nutrition
NSCTL Newborn screening Confirmatory Testing Laboratory at Sabah

hospital
86 of 86

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Newborn Screening Manual

A GUIDE FOR NEWBORN CARE PROVIDERS EDITION: 1

Newborn Screening Manual:

This manual was created by Kuwait National Newborn Screening Committee

Appendices Filter paper for dried –blood Algorithm for Decreased

NBS report form for Tandem

NBS report form for DELFIA Algorithm for elevated 17OH

Newborns admitted to NICU APP8 Algorithm for elevated C8

Newborn screening order form

List of disorders in the Algorithm for elevated

Newborn Screening sample Algorithm for elevated

Introduction : Ensuring that every infant born in Kuwait is screened

2014 – Screening of 22 diseases in Kuwait started after

Kuwait Newborn Screening system

In addition, the Newborn Screening Committee includes most

NSO contact information

Dr. Mona Al-khawari Up to date protocol:

Al- Sabah Hospital laboratories

When the sample is received, the blood spot is tested and

Screen positive results (increased risk)

If the infant is screen positive, this does NOT mean that

List of disorders included in the Newborn Screening

Scope: g. Working hours for Clinical Biochemistry doctors:"

Newborn Screening office:

Timing of specimen collection

Premature or low birth weight infants

Premature and/or low birth weight infants who are being

2. Total Parenteral Nutrition (TPN). Amino acid solutions

Samples collected from infants greater Total Parental Nutrition (TPN)

Cleaning the site

Wash hands vigorously before proceeding. All appropriate

circles requires approximately 75-100 uL) required for the

5. The assigned neonatologist at NICU/SCU should

Data registration for dried-blood spot specimens:

Dried-blood spot specimens arrived at Newborn

Unsatisfactory specimens for specimen quality reasons

S p o t s a p p e a r Ensure that the puncture site is clean and dry before

Blood spots clotted Applying successive drops of blood to already partially

All fields on the blood spot collection card should be filled

Failure to provide all information on the card may

Once notified of an unsatisfactory specimen. The NS

4. For positive DELFIA screen the coordinator of NS Missed newborn screens

Privacy and confidentiality

• To teach. Occasionally, the dried blood spot samples may be

• Samples may be used for research approved by a

Overview of NSO process

There are a variety of metabolic disorders characterized DELFIA :

• TSH surge in first • delayed rise of

yes • parenteral • early collection (<24

3 - 7 days • parenteral • early collection,

yes 24 - 48 hours • parenteral • early collection or

MCD, yes maternal Vitamin

3MCC yes 24 - 48 hours asymptomatic

Special consideration that affect the results of screening:

2. Parenteral Nutrition (PN)

4. Sick or stressed infant

5. Preterm or low birth weight infant

6. Steroid or antibiotic treatment

7. Early collection (prior to 24 hours of age)