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%).”

The post Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly. appeared first on Global NIPT Consortium.

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.”

The post Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings. appeared first on Global NIPT Consortium.