ArticlePloS one2016
Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference.Genes · 2026Review
- 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
- Article
- Novel liquid biopsy CNV biomarkers in malignant melanoma.Scientific reports · 2024Article
- Performance of noninvasive prenatal testing for twin pregnancies in South China.Journal of assisted reproduction and genetics · 2023Article
- Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.Molecular genetics & genomic medicine · 2023Article
- A comprehensive performance analysis of sequence-based within-sample testing NIPT methods.PloS one · 2023Article
- Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.BMC pregnancy and childbirth · 2022Article
- Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.Medicina (Kaunas, Lithuania) · 2022Article
- Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.Journal of assisted reproduction and genetics · 2022Article
- Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis.Frontiers in genetics · 2022Article
- Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.Frontiers in genetics · 2022Article
- WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis.Diagnostics (Basel, Switzerland) · 2021Article
- Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.BMC pregnancy and childbirth · 2021Article
- 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
- Article
- Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.Frontiers in genetics · 2021Article
- Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies.Frontiers in genetics · 2020Article
- Non-invasive prenatal screening for Emanuel syndrome.Molecular cytogenetics · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method.
methodA total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 CNVs samples and 886 normal samples from September 1, 2011 to May 31, 2013, were enrolled in this study. The samples were randomly rearranged and blindly sequenced by low-coverage (about 7M reads) whole-genome sequencing of plasma DNA. Fetal CNVs were detected by Fetal Copy-number Analysis through Maternal Plasma Sequencing (FCAPS) to compare to the karyotyping/microarray results. Sensitivity, specificity and were evaluated.
results33 samples with deletions/duplications ranging from 1 to 129 Mb were detected with the consistent CNV size and location to karyotyping/microarray results in the study. Ten false positive results and two false negative results were obtained. The sensitivity and specificity of detection deletions/duplications were 84.21% and 98.42%, respectively.
conclusionWhole-genome sequencing-based NIPT has high performance in detecting genome-wide CNVs, in particular >10Mb CNVs using the current FCAPS algorithm. It is possible to implement the current method in NIPT to prenatally screening for fetal CNVs.
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