METAGENTECH
CENTER FOR GENETIC DISEASES
NIPT
Non-invasive Prenatal Testing
NIPT is abbreviation for Non-Invasive Prenatal Testing. It is a test used during pregnancy to screen for the presence of genetic disorders in the baby. NIPT analyzes cell-free fetal DNA particles circulating freely in the mother's blood. It is particularly preferred for detecting chromosomal abnormalities such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and chromosomal sex anomalies (Turner syndrome, Klinefelter syndrome, Superfemale, etc.).
The test is performed by collecting maternal blood from the 10th week of pregnancy (ideally between 11 and 12 weeks) and is a non-invasive procedure that does not pose a risk of miscarriage for the baby. Results indicate the risk of chromosomal abnormalities with high accuracy, but as a screening test. NIPT is not a diagnostic test yet. Results indicating an abnormal risk are usually confirmed with diagnostic testing (e.g., amniocentesis or chorionic villus sampling). Genetic counseling is recommended.
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NIPT is a screening test. High-risk results must be confirmed with diagnostic tests. These are invasive tests, and depending on gestational age, the recommended diagnostic tests are chorionic villus sampling (12-14 weeks), amniocentesis (15-20 weeks), or cordocentesis (>21 weeks). A definitive diagnosis can only be made with these tests. However, the positive predictive value (PV) of NIPT has now exceeded 90%, particularly for trisomy 21, trisomy 13, and trisomy 18. While this value is low, it should be considered and diagnostic tests should be considered for other chromosomal gains or losses and microdeletion syndromes. We recommend genetic counseling in this regard.
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