Non-invasive prenatal screening (NIPS) using cell-free DNA in maternal blood can screen for chromosomal abnormalities like Down syndrome, trisomy 18, and trisomy 13. This screening analyzes placental DNA circulating in the mother’s bloodstream, providing a risk assessment for these conditions. A positive screening result doesn’t diagnose these conditions definitively but indicates a higher risk, necessitating further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), for confirmation. These diagnostic procedures carry a small risk of miscarriage.
The availability of NIPS represents a significant advancement in prenatal care, offering expectant parents an early and relatively safe method for assessing the risk of common chromosomal abnormalities. It provides information that can empower informed decision-making regarding further testing and pregnancy management. Historically, such risk assessments relied on maternal age and less accurate screening methods, often leading to unnecessary invasive procedures. NIPS offers a more targeted approach, reducing anxiety for many expectant parents.
