Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.

Maya I, Salzer Sheelo L, Brabbing-Goldstein D, et al. Ultrasound Obstet Gynecol. 2023;61(6):698-704. doi:10.1002/uog.26177.

Tags: Clinical Experience / Clinical Utility, 2023, Israel, RAAs, CNVs

  • “Conclusions: 5-NIPS and even genome-wide NIPS would miss 63.9% and 54.1% of clinically significant CMA findings [in pregnancies without major structural anomalies], respectively. The added value of 5-NIPS expanded to detect common microdeletions over 5-NIPS is about 0.035%, and the overall added value of genome-wide NIPS aimed at large CNVs is about 0.14%, both much lower compared with the added value of CMA (0.91%).”