ArticleMolecular genetics & genomic medicine2019
Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- GCfix: a fast and accurate fragment length-specific method for correcting GC bias in cell-free DNA.Bioinformatics (Oxford, England) · 2025Article
- Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.PloS one · 2025Article
- Correlation between types of ventricular septal defect and chromosomal abnormalities in low-risk non-invasive prenatal testing.Archives of gynecology and obstetrics · 2024Article
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.Orphanet journal of rare diseases · 2023Article
- A comprehensive performance analysis of sequence-based within-sample testing NIPT methods.PloS one · 2023Article
- Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.Scientific reports · 2022Article
- Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China.Journal of medical biochemistry · 2022Article
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.Journal of clinical laboratory analysis · 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
- New mechanism of partial duplication and deletion of chromosome 8: A case report.World journal of clinical cases · 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
- Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.Molecular genetics & genomic medicine · 2021Article
- Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing.Clinical case reports · 2021Article
- High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Analysis of 17,428 pregnant women undergoing non-invasive prenatal testing for fetal chromosome in Northeast China.Medicine · 2021Observational
- Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.Frontiers in genetics · 2021Article
- Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation.The journal of obstetrics and gynaecology research · 2020Article
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Authors and funding
17 authors.
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Abstract
backgroundExpanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely contribute to the application of CNVs screening in clinical practice.
methodsWe developed the Noninvasively Prenatal Subchromosomal Copy number variation Detection (NIPSCCD) method based on low-pass whole-genome sequencing, and evaluated its efficacy in detecting fetal CNVs and chromosomal aneuploidies with 20,003 pregnant women.
resultsTotally, NIPSCCD identified 36 CNVs, including 29 CNVs consistent and 7 CNVs inconsistent with amniocytes tests. Additionally, seven fetal CNVs identified by amniocytes testing were undetected by NIPSCCD. The sensitivities for detecting CNVs > 10 Mb, 5 Mb-10 Mb, and CNVs < 5 Mb were 91.67%, 100.00%, and 68.42%, respectively. Moreover, NIPSCCD identified 103/ true positive trisomy 21/18/13 cases and 21 false positives, producing an overall 100.00% sensitivity and 99.89% specificity.
conclusionNIPSCCD showed a good performance in detecting fetal subchromosomal CNVs, especially for CNVs >10 Mb, and can be incorporated into the routine NIPT chromosomal aneuploidies screening with high sensitivity and specificity.
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