Question

How to Interpret the Results of the Down Syndrome Screening?

Answer

The screening for Down syndrome is typically done by testing specific markers in a pregnant woman’s blood, including alpha-fetoprotein (AFP), human chorionic gonadotropin (β-hCG), unconjugated estriol (uE3), and inhibin A. The concentrations of these markers, combined with the woman’s age, are calculated using computer algorithms to determine the risk of Down syndrome. In your case, the risk of Down syndrome is 1 in 812, the risk of trisomy 18 is 1 in 42,321, and the risk of an open neural tube defect is 1.07. As for whether you need to undergo non-invasive prenatal testing (NIPT), this is a decision that takes into account factors such as risk levels, personal preferences, medical advice, and potential health risks. NIPT is a more accurate testing method that can detect various chromosomal abnormalities including Down syndrome, but it usually costs more than routine screening. It is recommended to consult with your obstetrician or genetic counselor for personalized advice.