15Feb 2023
Clinical utility of expanded non‐invasive prenatal screening compared with chromosomal microarray in over 8000 pregnancies without major structural anomalies

Clinical utility of expanded non‐invasive prenatal screening compared with chromosomal microarray in over 8000 pregnancies without major structural anomalies

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.

  • #gynaecology - ivf

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