Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort

The study assessed the utility of single-gene non-invasive prenatal screening (NIPS-SGD) in a high-risk reproductive genetics clinic. The NIPS-SGD panel was offered to pregnant individuals with various indications. Among 253 completed tests, 3.5% were positive, and diagnostic testing revealed no false positive or negative results. NIPS-SGD led to earlier prenatal diagnosis, enhanced surveillance, and targeted genetic analysis in some cases but should not replace clinically indicated diagnostic testing. Potential incidental findings such as parental diagnoses and misattributed parentage should be considered.