Who is offered genetic amniocentesis?

• A woman who will clock 35 years or older at the time of delivery.
• History of chromosomal abnormality in the family.
• To confirm an unsatisfactory result of an investigation such as NIPT (non-invasive prenatal test) in a pregnant woman. NIPT also known as NIPS (non-invasive prenatal screening) is a method used to ascertain the possibility that a fetus will be born with certain genetic abnormalities, such as the Down syndrome. This test can be done as early as 10 weeks of gestation.
• When the father or the mother has an abnormal chromosomal rearrangement, for instance translocation or an inversion.
• A couple with a high probability of having a kid with a hereditary genetic condition.
• A couple with a child with a neural tube defect, for example: anencephaly or spina bifida.
• Any woman who is aged 35 or above is advised to seek consultation with the managing obstetrician for alternative screening tests that will detect chromosomal abnormality — if the baby is due and the mother doesn't want an amniocentesis. This method can only detect specific anomalies, such as Down syndrome. If there are any irregularities in the screening test, an amniocentesis is recommended next, so that the doctor can make a definitive diagnosis of the problem.
  
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Why might I need a genetic amniocentesis?

Genetic amniocentesis is considered if;

1.   The diagnosis of a prenatal test result that was positive or of concern to the patient and the doctor wants to seek a confirmation.

2.   Positive history of a chromosomal condition or neural tube defect in a previous pregnancy. Taking the test helps to confirm or rule out these disorders.

3.   A woman above the age of 35 years old is pregnant. In general, children born to older women have a higher probability of inheriting a chromosomal anomaly.

4.   In the mother’s family or the partner’s family, there has been a known history of a genetic disease.

5.   To exclude or diagnose genetic conditions associated with irregular ultrasound findings, amniocentesis might be recommended by the managing physician.

Amniocentesis can be used to detect a range of genetic diseases like cystic fibrosis and fragile X syndrome apart from detecting chromosomal abnormalities like Down syndrome or Neural tube defects like spina bifida.

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What is amniotic fluid?

Amniotic fluid is a clear liquid that surrounds and protects the growing baby inside the amniotic sac. The amniotic sac is a sac in which the developing fetus grows. The amniotic fluid resembles water but it contains some of the baby's cells. These cells are being shed by the baby as he or she grows. These cells provide information about the genes as well as other pertinent information about the state of health of the developing fetus before birth.

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What can an amniocentesis test detect?

Amniocentesis can detect;

1.   Genetic diseases like Down syndrome, Tay-Sachs disease, etc.

2.   Neural tube defects like spina bifida

3.   It can also evaluate the state of health of the baby's lungs and so early detection of any respiratory anomaly is picked to know if early birth should be arranged to protect the health of the mother and the baby.

4.   Other health concerns, like Rh disease.

In some situations, amniocentesis can function as a treatment for polyhydramnios, in which the excess amniotic fluid surrounding the fetus can be removed to prevent it from negatively affecting the baby's heathy growth.