Non-invasive prenatal testing (NIPT) analyzes cell-free DNA circulating in maternal blood to screen for certain chromosomal conditions in a developing fetus. A negative or screen negative result indicates a low probability of the fetus having the specific conditions screened. For example, a negative result for trisomy 21 suggests a low probability of Down syndrome. This screening provides valuable information for expectant parents during pregnancy.
The availability of this screening test has significantly impacted prenatal care. It offers an early, safe, and relatively non-invasive method to assess risk for common chromosomal aneuploidies. While not diagnostic, a screen negative outcome can offer considerable reassurance and may reduce the need for more invasive diagnostic procedures like amniocentesis or chorionic villus sampling (CVS), which carry a small risk of miscarriage. This advance in prenatal screening has transformed the way prospective parents approach pregnancy management decisions.