This non-invasive prenatal screening (NIPS) assesses cell-free DNA in maternal blood to estimate the risk of specific chromosomal conditions in a developing fetus. For instance, it can screen for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). It also often includes screening for sex chromosome aneuploidies.
Offered during the first or second trimester, this type of screening provides expectant parents with valuable information about the potential health of their pregnancy. It is important to note that this screening is a risk assessment, not a diagnostic test. High-risk results often require follow-up with diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, to confirm or rule out a chromosomal abnormality. The development and availability of these cell-free DNA screenings have significantly advanced prenatal care, providing a safer and earlier screening option compared to traditional methods.
