What is the NIPT test, and how does it help screen for genetic conditions during pregnancy? - #14794

Non-Invasive Prenatal Testing (NIPT) is a screening method used during pregnancy to assess the baby’s risk for certain chromosomal abnormalities. Here’s how it works and what to expect: How NIPT Works DNA Analysis: The mother’s blood contains small fragments of the baby’s DNA, called cell-free fetal DNA (cffDNA). NIPT analyzes this DNA to look for abnormalities in the number of chromosomes. Conditions Screened: Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Sex chromosome abnormalities (e.g., Turner syndrome or Klinefelter syndrome) Some tests may also screen for microdeletions (small missing pieces of chromosomes). NIPT vs. Other Prenatal Tests NIPT: Non-invasive (blood sample from the mother). No risk to the baby. Provides a risk assessment, not a definitive diagnosis. Amniocentesis: Involves taking amniotic fluid with a needle. More invasive but gives a definitive diagnosis. Small risk of miscarriage. Chorionic Villus Sampling (CVS): Collects placental tissue. Also invasive and can provide a definitive diagnosis but carries miscarriage risk. Accuracy Highly accurate for detecting trisomy conditions (e.g., 99% detection rate for Down syndrome). However, it’s still a screening test, not diagnostic. False positives/negatives: NIPT can sometimes indicate a high or low risk inaccurately. Follow-up Options If NIPT indicates a high risk of a chromosomal abnormality, diagnostic tests like amniocentesis or CVS are recommended to confirm the result. Genetic counseling may also be offered to help parents understand the results and make informed decisions. Patient Experience Many parents find NIPT helpful for peace of mind or early preparation if a condition is detected. Some report relief with low-risk results, while high-risk results can prompt further discussions and testing with their healthcare provider.