Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings.

Maya I, Salzer Sheelo L, Brabbing-Goldstein D, et al. Am J Obstet Gynecol. 2022;226(4):562.e1-562.e8. doi:10.1016/j.ajog.2021.11.016. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2022, Israel, RAAs, CNVs

• “Of the 7235 pregnancies, clinically significant copy number variants were demonstrated in 87 cases (1.2%). The residual risk following theoretically normal noninvasive prenatal screening was 1.07% (1/94) for 3-noninvasive prenatal screening, 0.78% (1/129) for 5- noninvasive prenatal screening, 0.74% (1/136) for 5- noninvasive prenatal screening including common microdeletions, and 0.68% (1/147) for genome-wide noninvasive prenatal screening.”
• “Conclusion: The residual risk of clinically significant copy number variants in pregnancies without structural sonographic anomalies is appreciable and depends on the noninvasive prenatal screening extent and maternal age.”