Non-invasive prenatal screening (NIPS) reports, such as those from the Harmony test, typically present information in a clear, easy-to-understand format. These reports generally indicate the fetal sex and assess the risk for specific chromosomal conditions like trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Some tests also screen for sex chromosome abnormalities. The results are often presented as either low risk or high risk for each condition screened. A sample report might show a graphical representation of the chromosomes with highlighted regions indicating the areas analyzed, along with the corresponding risk assessment for each. Numerical probabilities for each trisomy may also be included.
Such screenings offer expectant parents valuable information about the developing fetus’s health early in pregnancy. This information can empower informed decision-making regarding further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), if a high-risk result is received. These tests significantly reduce the need for invasive procedures, which carry inherent risks. The development and refinement of NIPS represent a substantial advancement in prenatal care, offering a safer and more accessible screening option compared to traditional methods.