List of genetic tests that can be done during pregnancy

Genetic tests that can be performed during pregnancy are used to investigate various genetic conditions and abnormalities in the fetus. These tests are intended to assess genetic risk and provide information to help parents make appropriate preparations and decisions. Below is a list of common genetic tests available during pregnancy:

NIPT (Non-Invasive Prenatal Testing).

It is possible from early pregnancy and involves analyzing foetal DNA fragments from the mother’s blood for chromosomal abnormalities such as Down syndrome (21 trisomy’s), Edwards syndrome (18 trisomy’s) and Pato’s syndrome (13 trisomy’s).

Amniotic fluid testing:.

A test performed in mid-pregnancy (from 15 weeks onwards), which uses foetal cells obtained from amniotic fluid to test for chromosomal abnormalities, genetic disorders or certain other conditions. It is invasive and carries certain risks (e.g. miscarriage).

Chorionic villus screening (CVS):.

This test is performed between 6 and 12 weeks’ gestation and involves collecting chorionic tissue from the placenta to look for chromosomal abnormalities and genetic disorders.It can be performed earlier than amniotic fluid testing, but is also invasive and carries risks.

NIPPT (Non-Invasive Paternal Testing Before Birth).

The test allows the identity of the father to be tested at the foetal stage by comparing the mother’s blood with the pseudo-father’s DNA. There is no risk and the accuracy is over 99.99%.

Fetal DNA analysis:.

This test, which is rarely performed, is designed to provide more detailed information on specific genetic abnormalities. This test is usually considered when there is an increased risk of certain genetic diseases.

These genetic tests should be selected based on the risks, benefits and individual needs. Before undergoing testing, it is important to discuss in detail with a genetic counsellor or health care provider to determine which test is best for you. This will ensure that you have a good understanding of the implications of the test results and possible genetic problems to deal with.

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