ArticleJournal of clinical medicine2020
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- Strategies to Detect Chromosomal Anomalies Not Identified by NIPT.Prenatal diagnosis · 2025Article
- Article
- Article
- True Fetal Trisomy 22 Detected Using Genome-Wide Noninvasive Prenatal Testing.Journal of obstetrics and gynaecology of India · 2023Article
- Article
- Article
- Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.Journal of clinical medicine · 2022Article
- Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.Medicina (Kaunas, Lithuania) · 2022Article
- Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.Frontiers in genetics · 2022Article
- Review
- Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.Frontiers in genetics · 2022Article
- Cell-Free DNA in the Investigation of Miscarriage.Journal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
20 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples-42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00-94.81) and specificity was 99.3% (145/146; CI 96.22-99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.
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