Non-Invasive Prenatal Testing (NIPT) analyzes cell-free DNA circulating in maternal blood to screen for common chromosomal conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13). A typical report presents findings as either “low risk” or “high risk” for each condition screened. It may also include information about fetal sex and, in some cases, rare sex chromosome aneuploidies. A sample report might show “low risk” for all trisomies screened, indicating a lower probability of these conditions. Conversely, a “high risk” result for Trisomy 21 suggests an increased chance of the fetus having Down syndrome, warranting further diagnostic testing like chorionic villus sampling or amniocentesis.
Offering a screening option with high detection rates and a low false-positive rate, NIPT has become increasingly important in prenatal care. It provides early information about potential chromosomal abnormalities, empowering prospective parents to make informed decisions. This screening method carries no risk of miscarriage, unlike invasive procedures, representing a significant advancement in prenatal diagnostics. Its development and increasing availability have transformed the landscape of prenatal screening, offering more accessible and safer options for early risk assessment.
