What is noninvasive prenatal testing (NIPT)?

This noninvasive prenatal diagnostic test is also known as the cff DNA test. Different companies have different names for the test. It is performed to screen for certain genetic diseases in the developing baby. It can be performed starting in the tenth week. This test detects DNA fragments belonging to the baby in the mother's blood and calculates the baby's risk for certain genetic diseases. The NIPT test is a screening test performed by drawing 20 cc of blood from the expectant mother into a specially designed tube. After a two-week evaluation, the results are reported with an accuracy rate of over 99% for the chromosomes and genetic diseases being examined. This allows the test to be evaluated for suspected risks in the individual requesting the test well before amniocentesis is scheduled.

 

A low-risk NIPT test result doesn't mean the baby will be completely genetically healthy, as the test only examines specific chromosomes or DNA regions. However, it's also crucial for early evaluation of serious chromosomal abnormalities (such as Down syndrome) that may be encountered during pregnancy and persist until birth. NIPT can help avoid procedures like amniocentesis or CVS, which pose a threat to miscarriage. However, if the test is positive, amniocentesis or CVS should be performed to confirm the findings, and the pregnancy should then be terminated. If the test is negative, amniocentesis or CVS is not necessary to confirm the diagnosis. Chromosomal disorders are incurable. If a genetic syndrome is diagnosed, you will need to make a serious decision about whether to continue the pregnancy. NIPT tests are not only applicable to singleton pregnancies; they can also be used in twin pregnancies.

 

In addition, a detailed Fetal Anomaly Screening should be performed with color Doppler ultrasonography, also called second-level ultrasonography, between 20-23 weeks.