Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.20211130174255
Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.
Wang J, Zhang B, Zhou L, Zhou Q, Chen Y, Yu B. Front Genet. 2021;12:665589. Published 2021 Jul 16. doi:10.3389/fgene.2021.665589. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, Review / Meta-Analysis, 2021, International, CNVs
- “Among the 24,613 pregnant women who received NIPS, 124 (0.50%) were suspected to have fetal CNVs. Of these, 66 women underwent prenatal diagnosis with CMA and 13 had true-positive results. The positive predictive value (PPV) of NIPS for fetal CNVs was 19.7%. Among 1,161 women who did not receive NIPS and underwent prenatal diagnosis by CMA, 47 were confirmed to have fetal pathogenic CNVs. Retesting with NIPS indicated that 24 of these 47 cases could also be detected by NIPS, representing a detection rate (DR) of 51.1%.”
- “10 publications, namely, six retrospective studies and four prospective studies, met our criteria and were selected for a detailed full-text review. The reported DRs were 61.10-97.70% and the PPVs were 36.11-80.56%. The sizes of CNVs were closely related to the accuracy of NIPS detection. The DR was 41.9% (13/31) in fetuses with CNVs ≤ 3 Mb, but was 55.0% (11/20) in fetuses with CNVs > 3 Mb.”
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease20170101020140
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
Pertile MD, Halks-Miller M, Flowers N, et al. Sci Transl Med. 2017;9(405):eaan1240. doi:10.1126/scitranslmed.aan1240. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, Clinical Experience / Clinical Utility, 2017, International, RAAs
- Rare autosomal trisomies are frequently associated with adverse pregnancy outcomes. In this publication, Expanded NIPT data from 89,817 unique pregnancies were analyzed to identify the prevalence of rare autosomal trisomies and partial deletions/duplications, as well as to study the clinical value of such screening. In the study population, 0.44% had chromosome abnormalities (0.34% rare autosomal trisomies and 0.10% partial deletions/duplications); in these cases, 75% had clinical outcomes associated with relevant feto-maternal adverse outcomes.