ArticleDiagnostics (Basel, Switzerland)2020
Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings.
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference.Genes · 2026Review
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- Correlation between types of ventricular septal defect and chromosomal abnormalities in low-risk non-invasive prenatal testing.Archives of gynecology and obstetrics · 2024Article
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.Scientific reports · 2024Article
- Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.BMC pregnancy and childbirth · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH.Diagnostics (Basel, Switzerland) · 2021Article
- Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.Frontiers in genetics · 2021Article
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Authors and funding
7 authors.
Funding
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Abstract
Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy number variants (CNV) detection using an in-house CNV fraction-based detection algorithm. The sensitivity for CNVs smaller than 3 megabases (Mb), larger than 3Mb, and overall was 78.57%, 100%, and 90.6%, respectively. Regarding the fetal fraction, detection sensitivity in the group with a fetal fraction of less than 10% was 57.14%, whereas there was 100% sensitivity in the group with fetal fraction exceeding 10%. The assay is also capable of indicating whether the origin of an aberration is exclusively fetal or fetomaternal/maternal. This validation demonstrated that a CNV fraction-based algorithm was applicable and feasible in clinical settings as a supplement to testing for common trisomies 21, 18, and 13.
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