Fetal DNA test

What is fetal DNA testing?

Fetal DNA testing is a test that is performed from the tenth week of gestation (although it is advisable to do it around the twelfth week, after having obtained the nuchal translucency evaluation) in order to evaluate the risk of the fetus having chromosomal abnormalities, such as trisomy 21, responsible for Down syndrome, and trisomy 13 and 18, responsible for Patau syndrome and Edwards’ syndrome. In addition to being an accurate and precise test, it has the advantage of being a non-invasive test for both mother and child. Fetal DNA testing is not a substitute for villocentesis and amniocentesis. Thanks to recent systems, the arrangement of nucleotides (units that make up a DNA molecule) and their characteristics can be observed.

What does it consist of?

Fetal DNA testing is performed by a simple maternal blood test, which is then analyzed in the laboratory. Results are usually available after approximately two weeks.

Fetal DNA testing is performed from the tenth week onwards.

Why is it performed?

This test allows the possibility that the fetus is affected by chromosomal abnormalities to be determined. In addition, it is a non-invasive test and does not carry the slightest risk of miscarriage, which, on the contrary, is the case with villocentesis and amniocentesis. In addition, it allows to know the sex of the fetus through the identification of the X and Y chromosomes, and possible sex chromosomopathies (Turner’s syndrome for females and Klinefelter’s syndrome for males).

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Through this test, fragments of free fetal DNA from the placenta and maternal blood can be identified and analyzed.

Preparation for fetal DNA testing

There is no specific preparation for the test and you do not need to be fasting for the test.

What does the test feel like?

As a simple blood draw, the test is completely harmless and painless.