Jurnal Amniocentesis 4

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Continuing Education Activity

Amniocentesis is the aspiration of amniotic fluid from the amniotic cavity and
is the most common invasive fetal testing procedure. It is usually performed
for fetal aneuploidy testing. This activity reviews the indications of
amniocentesis, highlights the procedural technique, and describes the role of
the interprofessional team in performing this procedure.
Objectives:
 Identify the common indications and contraindications of
performing amniocentesis.
 Describe the equipment required, the technique used, and the patient
preparation needed for performing an amniocentesis.
 Outline and review the possible complications and clinical
significance of amniocentesis.
 Review interprofessional team strategies for improving care
coordination and communication to advance amniocentesis
procedures and to improve clinical outcomes.
Access free multiple choice questions on this topic.
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Introduction
Amniocentesis is the aspiration of amniotic fluid from the amniotic cavity and
is usually used for prenatal diagnosis of aneuploidy or congenital diseases and
infections. It is the most commonly performed invasive fetal test.
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Anatomy and Physiology


The fetus is surrounded by two layers, i.e., outer chorion, and inner amnion.
Inside the amnion lies the amniotic cavity containing the amniotic fluid.
During early gestation, the amnion can be seen ultrasonographically as a thin
line. As the gestational age progresses, the amnion completely obliterates the
chorionic cavity, which is usually by 12 to 14 weeks. The unfused membrane
has been defined as a minimum 3 mm separation between the two membranes
involving 50% of the amniotic cavity.[1] Amniocentesis is hence done beyond
15 weeks. Early amniocentesis is associated with the tenting of the amniotic
membrane causing higher chances of amniotic fluid leakage and fetal
abnormalities. Amniocentesis that is done before membrane fusion is
associated with a higher chance of failure to reach the amniotic fluid at first
prick, thus increasing the number of pricks and complication rates.[2]
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Indications
Amniocentesis is a commonly performed procedure for several reasons. With a
better understanding of genetic and congenital diseases including infections,
amniocentesis has gained more popularity for making an early diagnosis and
treat the treatable causes. Following are some important indications of
amniocentesis:
 Increased risk of fetal aneuploidy in the combined test, non-invasive
prenatal test (NIPT), abnormal genetic sonography (positive major
soft tissue marker, two positive minor soft tissue marker), previously
affected fetus, family history of a balanced translocation.
 Increased risk for genetic disease, i.e., an autosomal recessive
disease with carrier status of both parents, or X-linked recessive
diseases.
 Maternal transmittable disease, i.e., TORCH infections, such as
toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other
organisms.[3]
 Invasive tests on maternal request are usually not an indication but
can be done in exceptional cases.
 Advanced maternal age (older than 35 years) in itself is not an
indication of invasive testing.[4]
 To assess fetal lung maturity in late gestation.
 Rh isoimmunized pregnancy to assess bilirubin in amniotic fluid and
grade the severity of alloimmunization. It has largely been replaced
by non-invasive tests, including the middle cerebral artery doppler.
 In hydramnios, it has a therapeutic role to relieve maternal
discomfort and instill intraamniotic drugs.[5]
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Contraindications
There are no absolute contraindications for the procedure. Relative
contraindications include:
 Infections
 Patients on anticoagulants. Oral anticoagulants should be stopped 48
to 72 hours before the procedure, and patients may be shifted to low
molecular weight heparin.
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Equipment
The procedure is done under continuous ultrasound guidance. Apart from an
ultrasonography machine, the following equipment is required:
 Sterile swabs and drapes
 Syringe 2 ml, 10 ml
 Needle 20 gauge to 22 gauge
 Containers for collection and sample transport
 5% Povidone-iodine solution
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Preparation
Before Undergoing the Procedure
 Couples should undergo genetic counseling.
 Written consent should be obtained. While obtaining the consent,
the couple should be explained how, when, and by whom the
procedure will be done and what is the indication to do the
procedure. The fetal and maternal risks associated with the
procedure should also be discussed in detail. The time required to
obtain results, failure to culture cells, and the type of cytogenetic test
being performed on the sample obtained should be discussed as
well.
 In Rh-negative women, the need for anti-D to be explained.
 Proper documentation of the procedure should be done.
 Ultrasonography before the procedure is done to note the number of
fetuses, viability of the fetus, placental location, gestational age, site
of cord insertion, and any obvious fetal malformation. 
At the Time of the Procedure
 Complete aseptic barrier/conditions should be established at the
beginning of the procedure by preparing the skin and ultrasound
probe.
 A local anesthetic is not required.
 Prophylactic antibiotics are not required.
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Technique
After confirming the prerequisites and once the preparation is complete, the
procedure is commenced. The technique can be performed by the freehand
method under ultrasound guidance, or a guided needle attached to the probe
can be used. A 20 gauge to 22 gauge spinal needle is used to enter the amniotic
cavity under continuous ultrasound guidance. A firm entry into the amniotic
cavity is recommended to prevent the tenting of the amniotic membrane.
[6] Once entry into the cavity is confirmed, amniotic fluid is slowly aspirated.
The initial 1 ml to 2 ml of amniotic fluid is discarded because it has the highest
chance of maternal cell contamination.[6] Approximately 18 ml to 20 ml of
amniotic fluid is required for karyotype testing, and 2 ml to 5 ml is required to
test for enzyme deficiency testing. The needle is removed after adequate
amniotic fluid has been obtained. Entry into the amniotic cavity through the
placenta should generally be avoided because it increases the chances of
bloody tap, especially in Rh-negative women. After the procedure, fetal
cardiac activity is confirmed. Administration of anti-D is required in women
with Rh-negative pregnancy.
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Complications
In experienced hands, the risk of complications is minimal. Both maternal and
fetal complications are experienced with amniocentesis.
 The fetal loss rate associated with amniocentesis on an average is
0.11%. The loss is 0.56% within 28 days, 0.09% within 42 days.[6]
 Amniotic fluid leak: 1% to 2%, and usually associated with
spontaneous sealing of membranes.[6]
 There is a 2% to 3% risk of vaginal bleeding.
 An estimated 2.6% risk of fetomaternal hemorrhage.
 There is minimal chance of the introduction of skin bacteria into the
amniotic cavity. The risk of chorioamnionitis and uterine infections
is less than 0.1%.
 The procedure increases the risk of preterm, preterm premature
rupture of membrane, and oligohydramnios.
 There is a minimal chance of fetal injury, including ocular,
cutaneous injuries. The risk of talipes equinovarus (clubfoot) is
higher with early amniocentesis and increases when there is
amniotic fluid leakage.
 Post-procedure pain and maternal discomfort: Mean pain intensity
described is 1.6+/-1.3 when noted on a scale of 0-7.[7]
The risk of complications is high when more than or equal to 3 pricks are used
to obtain amniotic fluid. In ideal conditions, if an adequate fluid sample is not
obtained in 2 pricks, the procedure should be abandoned for 24 hours,
whereafter it can be re-attempted. In experienced hands, people performing
more than 300 procedures/year; the risk is less. The risk of fetal loss is higher
in women who are otherwise at a higher risk of miscarriage, such as women
carrying fetuses with structural malformations, fibroids, retroplacental
hematoma, obese women, women with vaginal infection at the time of the
procedure. Amniocentesis in up to 86.0% of the patients was safe and free
from any complications.[8]
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Clinical Significance
Amniocentesis is a confirmatory test to obtain fetal karyotype. It is easier to
obtain karyotype after 15 weeks by amniocentesis. Term amniocentesis is
associated with a high failure rate. In advanced gestational age, it is required to
confirm fetal lung maturity; however, obtaining a karyotype is difficult. Once
the amniotic fluid is obtained, it is sent for a conventional cell culture report,
which is obtained in 14 days. There are rapid chromosomal preparations
available that give results in 1 to 2 days, including fluorescent in-situ
hybridization (FISH) and quantitative fluorescence polymerase chain reaction
(QF-PCR). The procedure is relatively safe, with fewer complications amongst
experienced hands. The location of the placenta is an important factor for
amniocentesis. While performing the procedure, one should try to avoid
penetration of the placenta. The anterior and fundal placenta is associated with
a higher number of complications, including multiple pricks, blood-stained
liquor; however, it is not associated with an increase in the number of fetal loss
rates.[9] Passing the needle through the placenta is slightly associated with an
increase in rates of preterm birth.[10]
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Enhancing Healthcare Team Outcomes


The decision to perform amniocentesis and convey the results to the couple
requires communication between geneticists and fetal medicine experts. The
patient has to be counseled by geneticists for them to know the true possibility
of the fetus being affected by some genetic disease. Following the counseling
session, the patient is referred for the procedure. While performing the
procedure, coordination amongst the team is required. Once the needle is
inside the amniotic cavity, the assistant should carefully withdraw the amniotic
fluid so as the procedure is performed in the minimal time possible and with
minimal risk of needle displacement.
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Review Questions
 Access free multiple choice questions on this topic.
 Comment on this article.
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References
1.
Pinette MG, Wax J, Blackstone J, Cartin A, McCrann D. Timing of
early amniocentesis as a function of membrane fusion. J Clin
Ultrasound. 2004 Jan;32(1):8-11. [PubMed]
2.
Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for
Genetic Disorders. Obstet Gynecol. 2016 May;127(5):976-
978. [PubMed]
3.
American College of Obstetricians and Gynecologists. ACOG
Practice Bulletin No. 88, December 2007. Invasive prenatal testing
for aneuploidy. Obstet Gynecol. 2007 Dec;110(6):1459-
67. [PubMed]
4.
Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal
diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1-7. [PubMed]
5.
Mathai M. Amniocentesis. Natl Med J India. 1992 Jan-Feb;5(1):30-
2. [PubMed]
6.
Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N,
Alfirevic Z, McGillivray G., International Society of Ultrasound in
Obstetrics and Gynecology (ISUOG). ISUOG Practice Guidelines:
invasive procedures for prenatal diagnosis. Ultrasound Obstet
Gynecol. 2016 Aug;48(2):256-68. [PubMed]
7.
Harris A, Monga M, Wicklund CA, Robbins-Furman PJ, Strecker
MN, Doyle NM, Mastrobattista J. Clinical correlates of pain with
amniocentesis. Am J Obstet Gynecol. 2004 Aug;191(2):542-
5. [PubMed]
8.
Jummaat F, Ahmad S, Mohamed Ismail NA. 5-Year review on
amniocentesis and its maternal fetal complications. Horm Mol Biol
Clin Investig. 2019 Sep 20;40(2) [PubMed]
9.
Kalogiannidis I, Prapa S, Dagklis T, Karkanaki A, Petousis S,
Prapas Y, Prapas N. Amniocentesis-related adverse outcomes
according to placental location and risk factors for fetal loss after
midtrimester amniocentesis. Clin Exp Obstet
Gynecol. 2011;38(3):239-42. [PubMed]
10.
Chaksuwat P, Wanapirak C, Piyamongkol W, Sirichotiyakul S,
Tongprasert F, Srisupundit K, Luewan S, Traisrisilp K, Jatavan P,
Tongsong T. A comparison of pregnancy outcomes after second-
trimester amniocentesis between cases with penetration of the
placenta and nonpenetration. J Matern Fetal Neonatal Med. 2020
Apr 16;:1-6. [PubMed]
Copyright © 2021, StatPearls Publishing LLC.

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In this Page
 Continuing Education Activity
 Introduction
 Anatomy and Physiology
 Indications
 Contraindications
 Equipment
 Preparation
 Technique
 Complications
 Clinical Significance
 Enhancing Healthcare Team Outcomes
 Review Questions
 References

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