Maternal and Child Health Nursing

NCM 101 CMO 14

Mary Lourdes Nacel G. Celeste, MD, RN

Genetic Disorders
 Facts
1 in 20 newborns has an
inherited genetic disorder
Over 30% of pediatric
admissions are for genetic-
influenced disorders

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Genetic Disorders
Inherited or genetic disorders
-disorders that can be passed
from one generation to the next
Genetics
-Study of why disorders occur

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Nature of Inheritance
 In humans, each cell, with the exception of the
sperm and ovum, contains 46 chromosomes
(44 autosomes and 2 sex chromosomes) in the
nucleus

 Each chromosome contains thousands of

genes
 Sex chromosomes 46XX: female
46XY: male
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Normal Female Karyotype

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Mary Lourdes Nacel G. Celeste, R.N., M.D.
Normal Male Karyotype

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Nature of Inheritance
• Genes
Basic units of heredity; structures
responsible for hereditary characteristics
 May or may not be expressed or passed to the
next generation
 According to Mendel’s Law, one gene for each
hereditary property is received from each parent;
one is dominant (expressed); one is recessive

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Karyotype
 Chromosomal pattern of a cell including
genotype, number of chromosomes and
normality or abnormality of the chromosomes

Genotype
 Actual gene composition
 Sequence and combination of genes on a
chromosome

Phenotype
 Outward appearance or observable expression
of genes (hair color, eye color, body build,
allergies)

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Alleles
 Pairs of genes located on the same site on
paired chromosomes
 Homozygous alleles (DD or dd)
 Heterozygous alleles are two different alleles
for the same trait (Dd)

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CONGENITAL and GENETIC are not synonymous
 Congenital - present at birth because of
abnormal development in utero (teratology)

 Genetic – pertains to genes or

chromosomes; some genetic disorders may
be noticeable at birth and others may not
appear for decades

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 Dominant and Recessive Patterns
 Homozygous - a person who has 2 like genes
for a trait (eg, blue eyes: 1 from the mother
and 1 from the father)

 Heterozygous – if the genes differ (eg, 1 gene

for blue eyes from the mother, 1 gene for
brown eyes from the father)

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 Dominant and Recessive Patterns
Dominant genes – genes which are
expressed in preference to others
Recessive genes – genes that are
not dominant

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 Homozygous dominant - an individual with 2
homozygous genes for a dominant trait
 Homozygous recessive – an individual with 2
homozygous genes for a recessive trait

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Their children have a 100% chance of being heterozygous for the trait.
Phenotype – brown eyed (phenotype) ; but they will carry a recessive
gene for blue eyes in their genotype.

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The child will have an equal chance of being brown eyed (50%) or
blue eyed (50%).

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All the children will be brown- eyed. Chances are equal that their
children will be homozygous dominant (50%) like the father or
heterozygous (50%) like the mother.

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 Both parents are heterozygous. 25% chance of their children being
homozygous recessive (blue-eyed), 50% chance of being heterozygous
(brown eyed) and a 25% chance of being homozygous dominant (brown
eyed).

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 Inheritance of Disease
 Mendelian or Single gene disorders
A. Autosomal disorders
1. Autosomal dominant disorders
2. Autosomal recessive disorders
B. Sex – linked disorders
1. X-linked dominant inheritance
2. X-linked recessive inheritance
 Multifactorial inheritance
 Chromosomal aberrations or abnormalities

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 Autosomal disorders
• Occur in any chromosome pair other than the
sex chromosomes
• Result from a single altered gene or a pair of
altered genes on one of the first 22 pairs of
autosomes
• Autosomal dominant or
Autosomal recessive

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 Autosomal dominant traits
• Those in which the abnormal gene dominates
the normal gene; thus, the condition is always
demonstrated when the abnormal gene is
present.
• The affected parent has a 50% CHANCE OF
PASSING ON THE ABNORMAL GENE IN EACH
PREGNANCY.

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Autosomal dominant traits

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 Autosomal dominant
• Osteogenesis imperfecta (bones are
exceedingly brittle)
• Marfan syndrome (disorder of connective
tissue; child is thinner and taller than normal;
heart defects)
• Huntington’s disease
• Neurofibromatosis
• Achondroplasia (dwarfism)

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 Family pedigrees findings
(Autosomal dominant )
• 1 of the parents of the child with the disorder
also has the disorder
• The sex of the affected individual in
unimportant in terms of inheritance
• History of the disorder in other family
members

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 Autosomal recessive traits
• Require transmission of the abnormal gene
from both parents for demonstration of the
defect in the child
• Each child has a 50% CHANCE OF BEING A
CARRIER OF THE DISORDER
• Almost all carriers are free from symptoms

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 Autosomal recessive
• Albinism
• Sickle cell anemia (chronic intensely painful episodes caused
by obstruction of blood vessels by odd-shaped RBC’s;
precipitated by dehydration, infection, exposure to cold,
trauma, fatigue, lack of oxygen, strenuous physical activity)
- The primary nursing action in caring for an adolescent in sickle
cell crisis is directed at maintaining adequate hydration
- the spleen usually becomes enlarged due to congestion and
engorgement with sickled cells

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 Autosomal recessive
• Cystic fibrosis (multiple organ disease; the primary
pathophysiologic mechanism in cystic fibrosis mucus
buildup in the lungs and pancreas; steatorrhea;
azotorrhea)
• Inborn errors of metabolism (disorders caused by the
absence of or defect in enzymes that metabolize
proteins, fats or carbohydrates)
 Phenylketonuria or PKU (phenylalanine hydroxylase) –
brain damage and mental retardation
 Tay Sach’s disease (hexosaminidase)- child is attentive,
passive and regresses in motor and social development

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GROUP Disorder

Blacks/ African Sickle cell Anemia

Americans
Northern European Tay-Sachs disease
descendants of
Ashkenazic Jews
Caucasian/ Non- Cystic fibrosis
Hispanic
Mediterranean Thalassemia

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 Family pedigrees findings
(Autosomal recessive)
• Both parents of a child with the disorder are clinically
free of the disorder
• The sex of the affected individual in unimportant in
terms of inheritance
• History of the disorder in the family is negative
• A known common ancestor between the parents
sometimes exists. This is how both male and female
have come to possess a like gene for the disorder.

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 X-linked disorders
• Result from an altered gene on the X
chromosome
• May be dominant or recessive; recessive is
more common

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 Family pedigrees findings
(X-linked dominant)
• All individuals with the gene are affected
• Female children of affected men are all affected;
male children of affected men are unaffected
• It appears in every generation
• All children of homozygous affected women are
affected.
• EXAMPLE: Hypophosphatemia

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 MLNGC, MD, RN 33
Mary Lourdes Nacel G. Celeste, R.N., M.D.
 X- linked recessive
• More common
• Mother is the carrier of the disorder
• In female children, expression of the disease is
blocked
• In male children, disease will be manifested

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 Family pedigrees findings
(X-linked recessive)
• Only males will have the disorder
• A history of girls dying at birth for unknown
reasons often exists
• Sons of an affected man are unaffected
• The parents of affected children do not have
the disorder

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 X-linked recessive
• Hemophilia
• Color blindness
• Duchenne-type muscular dystrophy
• Christmas disease
• Fragile X syndrome

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 Multifactorial inheritance
• Abnormalities caused by multifactorial reasons
which do not follow the mendelian laws of
inheritance because more than a single gene is
involved
• Environmental influences may be instrumental in
determining whether the disorder is expressed
• Difficult to counsel parents regarding these disorders
because their occurrence is unpredictable

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 Multifactorial inheritance
• Cleft lip or palate
• Neural tube disorders
• Mental illness
• Pyloric stenosis
• Hypertension
• Heart disease
• diabetes

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 Genetic Counseling
• Purpose
Provide accurate information
Provide reassurance
Make informed choices
Educate people about disorders
Offer support

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 Nursing Responsibilities
 Alert couple to what procedures they can
expect to undergo
 Explain how genetic screening tests are done
and when they are offered
 Assess for signs and symptoms of genetic
disorders
 Offer support
 Assist in value clarification
 Educate on procedures and tests

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 Assessing for Genetic Disorders
 History
 Physical assessment

 Diagnostic testing
 Karyotyping – visual presentation of chromosomes (sample:
peripheral venous blood; scraping of cells from buccal
membrane)
 Barr body determination – if a child is born with ambiguous
genitalia; scraping of cells from buccal membrane; stained
and magnified; presence of nondominant X chromosome in
the nucleus- Barr body (chromosomally female)

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 Assessing for Genetic Disorders
 AFP analysis
- alpha fetoprotein (AFP) is a glycoprotein produced by the fetal liver
- AFP level in the amniotic fluid or maternal serum will differentiate from
normal if a chromosomal or a spinal cord disorder is present (eg, in
mothers who have gestational diabetes; infants 10x risk of having a neural
tube defect)
- Serum test is done at 15th week of pregnancy; if result is abnormal, amniotic
fluid will be assessed
- elevated 3-5x in amniotic fluid secondary to leakage from open neural tube
- low AFP, < 5% Down syndrome
- maternal serum AFP has a false positive rate 30%; use of triple study (AFP,
estriol and hCG) reduces false positive rate

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 Assessing for Genetic Disorders
Chorionic villi sampling
• Retrieval and analysis of chorionic villi for
chromosome analysis
• Transcervical or transabdominal; may be done as
early as 5 weeks, but more commonly done at 8-10
weeks of pregnancy
• Risks: bleeding/ loss of pregnancy; limb reduction
syndrome; infection
• Diagnosis of Sickle cell disease, thalassemia

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Chronic villi sampling

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 Assessing for Genetic Disorders
Amniocentesis
Withdrawal of amniotic fluid from the
abdominal wall for analysis at 14th to 16th
week of pregnancy
May include karyotyping, analysis of AFP
and acetylcholinesterase
Used to diagnose potential genetic
problems in the fetus (Down Syndrome), to
estimate fetal lung maturity or to diagnose
fetal hemolytic disease
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Amniocentesis

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 Assessing for Genetic Disorders
 Percutaneous umbilical blood sampling
- removal of blood from the umbilical cord using an
amniocentesis technique
- more rapid karyotyping
 Sonography/ Fetal imaging – assess fetus for general
size and structural disorders of the internal organs,
spine and limbs
- may be used concurrently with amniocentesis

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Percutaneous umbilical blood
sampling

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 Fetoscopy – insertion of a fiberoptic fetoscope through a small
incision in the mother’s abdomen into the uterus and
membranes to inspect the fetus for gross abnormalities
- can be used to confirm sonography finding, remove skin cells
for DNA analysis or perform surgery for a congenital defect

 Preimplantation diagnosis – may be possible in the future

- to remove the fertilized ovum from the uterus before
implantation for biopsy or cell analysis

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 Legal and Ethical Aspects
 Participation must be elective
 Informed consent
 Results must be interpreted correctly
 Confidentiality must be maintained
 Participation must be a free and individual
decision

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Common Chromosomal Disorders

 Detected at birth on physical examination

 Most common are nondisjunction syndromes
 Many of these disorders leave children
cognitively challenged

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 Common Chromosomal Disorders
1. Trisomy 13 syndrome
(Patau syndrome)

- Children have extra chromosome 13

- Severely cogitively challenged
- Incidence is low, .45 per 1,000 live births
- Midline body disorders present, microcephaly, with
abnormalities of the forebrain and forehead
- Eyes are smaller than normal (microphthalmos) or
absent
- Cleft lip and palate
- Low set ears
- Heart defects, VSD
- Abnormal genitalia
- Most do not survive beyond early childhood

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 2. Trisomy 18 syndrome
• 3 Number 18 chromosomes
• Severely cognitively challenged
• Incidence .23 per 1,000 live births
• Small for gestational age (SGA)
• Low set ears, small jaw, congenital heart defects,
misshapen fingers and toes (Index deviates or crosses
over other fingers)
• Soles of the feet are rounded not flat (rocker-bottom
feet)
• Do not survive beyond early infancy

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 3. Cri-du-chat syndrome
• Result of a missing portion of chromosome 5
• Abnormal cry – like a sound of a cat
• Small head, wide-set eyes, downward slant to
the palpebral fissure of the eye
• Severely cognitively challenged

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 4. Turner syndrome
- female with only 1 X chromosome
• Gonadal dysgenesis, 45XO
• Has only 1 functional X chromosome
• Short in stature
• Hairline at the nape is low set
• Neck may appear webbed and short
• May have edema of the hands and feet
• Congenital anomalies, eg, coarctation (stricture) of the aorta; kidney
disorders
• Streak (small and nonfunctional) gonads; may have pubic hair in puberty,
no other secondary characteristics
• Incidence is 1 per 10,000 live births
• On karyotyping, 1 X chromosome only (no Barr body present)
• Lack of fertility; learning disabilities; socioemotional problems
• Growth hormone may help achieve additional height; Estrogen may
induce withdrawal bleeding

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 5. Klinefelter syndrome
- male with an extra X chromosome
• Males with XXY chromosome pattern (47XXY) –may
be revealed by karyotyping
• At puberty – poorly developed secondary
characteristics; small testes that produce ineffective
sperm- often infertile
• Usually of normal intelligence or have mental
retardation
• Gynecomastia
• Incidence is about 1 per 1,000 livebirths

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 6. Fragile X syndrome
• X linked, 1 long arm of the X chromosome is defective
• 1 in 1,000 livebirths
• Most common cause of cognitive challenge in boys
• Before puberty – maladaptive behaviors: hyperactivity and
autism
• Reduced intellectual functioning (speech and arithmetic)
• Large head, long face with a high forehead, prominent
lower jaw, large protruding ears
• Hyperextensive joints, cardiac disorders
• After puberty – enlarged testicles; fertile
• Folic acid and phenothiazine may improve symptoms of
poor concentration and impulsivity; intellectual function
cannot be improved

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 7. Down syndrome (trisomy 21)
• Most frequent; 1 in 800 live births
• In pregnancy of women >35 years (1 in 100 live births);
paternal age > 55
• Diagnosis may be possible by sonography in utero
• Nose is broad and flat; epicanthal fold; palpebral fissure
tends to slant upward; iris of the eyes may have white speck
in it (Brushfield spots); tongue may be protruding; back of the
head is flat; short neck; extra apd of fat at the base of the
head; low-set ears; poor muscle tone;simian crease on palm
• Cognitively challenged; educable (IQ 50 – 70) to profound MR
(IQ< 20)

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• Prone to upper respiratory infections
• Congenital heart disease (atrioventricular defects)
• Stenosis/ atresia of the duodenum
• Strabismus; cataract disorders
• Acute lymphocytic leukemia
• Lifespan: 40 – 50 years
• Should be exposed to educational and play
opportunities

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