Non-Invasive Prenatal Testing (NIPT) is a modern genetic screening method that analyzes cell-free fetal DNA (cffDNA) circulating in the mother’s blood. It is performed as early as the 10th week of pregnancy and provides valuable information about the risk of chromosomal abnormalities in the fetus.
NIPT is important for:
• Early detection: Identifies common chromosomal conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13) at an early stage of pregnancy.
• Non-invasive: Requires only a maternal blood sample, avoiding the risks associated with invasive procedures like amniocentesis or chorionic villus sampling (CVS).
• High accuracy: Offers very high sensitivity and specificity for common trisomy’s compared to traditional biochemical screening tests.
• Broader scope: it can also screen for sex chromosome abnormalities (Turner, Klinefelter, Triple X, XYY) and sometimes microdeletions.
• Guides clinical decisions: Helps families and healthcare providers decide whether further diagnostic testing is needed.
NIPT is an early, safe, and accurate way to check the baby’s DNA for certain genetic conditions. It helps parents feel more informed and prepared, but it is always followed by confirmatory tests if results show high risk.