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This retrospective cohort study evaluated the theoretical added value of two types of non‐invasive prenatal screening (NIPS) expansions for pregnancies without major structural anomalies: 5‐NIPS (i.e., NIPS aimed for chromosomes 13, 18, 21, X and Y), and chromosomal microarray analysis (CMA). Of the 8,605 examined pregnancies, 122 (1.4%) clinically significant CMA results were demonstrated, 44 (36.1%) were theoretically 5-NIPS detectable, ranging from 1.56% in 642 pregnancies with maternal abnormal serum screening, 0.63% in 318 pregnancies with soft markers, 0.62% in 4,378 women with advanced maternal age, and 0.15% in women younger than 35 years. Three cases of common microdeletions were detected in the overall cohort (0.03%), as well as nine genome-wide‐NIPS detectable findings (0.1%). The added value of expanded NIPS was significantly lower compared to CMA, for overall cohort and the subgroups.
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