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A positive maternal screening for Down syndrome indicates a higher risk of the fetus having this genetic condition, which typically prompts the need for confirmatory testing. The most definitive ways to diagnose Down syndrome prenatally are through amniocentesis or chorionic villus sampling (CVS).

These procedures involve taking samples from the amniotic fluid or the placenta, respectively, to analyze the fetal chromosomes. This is crucial for parents who want accurate information regarding the health of their baby, as maternal screening tests can sometimes yield false positives. Consequently, a referral for these diagnostic tests represents an appropriate next step following a positive screening result, allowing for informed decision-making based on concrete genetic information.