Non-invasive prenatal testing (NIPT) analyzes cell-free DNA circulating in maternal blood to screen for common chromosomal abnormalities like Down syndrome, trisomy 18, and trisomy 13. A negative or screening negative result suggests a lower chance of these conditions. For example, a result indicating a low probability of a fetus having Down syndrome would be considered a screening negative result. It is important to note that NIPT is a screening test, not a diagnostic test.
This screening offers expectant parents valuable information about their pregnancy early on, often as early as 10 weeks gestation, contributing to informed decision-making regarding further diagnostic testing. The development and increasing utilization of this screening method represent a significant advancement in prenatal care, providing a safer alternative to more invasive procedures like amniocentesis or chorionic villus sampling (CVS), which carry a small risk of miscarriage. These screening tests are increasingly common during pregnancy and contribute significantly to the peace of mind for many expectant parents.