ArticleLife (Basel, Switzerland)2021
A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples.
Article in Life (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature.Journal of medical case reports · 2026Review
- Genetic and clinical features of microcephaly in a prenatal cohort.BMC pregnancy and childbirth · 2025Article
- Mapping copy number variable regions correlated with reproduction and production traits in Karan Fries cattle mammalian genomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- 5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.Orphanet journal of rare diseases · 2025Article
- A versatile platform for combinatorial antibody library cloning and NGS-based quality control with high accuracy.Nucleic acids research · 2025Article
- Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).Scientific reports · 2025Article
- Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.Journal of clinical medicine · 2024Article
- Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report.BMC medical genomics · 2024Article
- Analysis of copy number variants detected by sequencing in spontaneous abortion.Molecular cytogenetics · 2024Article
- 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 novel homozygousFrontiers in pediatrics · 2023Article
- Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.Journal of clinical laboratory analysis · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.Journal of translational medicine · 2022Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis. Low-pass whole-genome sequencing was performed on PCR libraries prepared from amniocyte genomic DNA. From 10-40 ng of input DNA, PCR-free libraries consistently produced sequencing data with high unique read mapping ratios, low read redundancy, low coefficient of variation for all chromosomes and high genomic coverage. In validation studies, reliable and accurate CNV detection using PCR-free-based rCNV-seq was demonstrated for a range of common trisomies and sex chromosome aneuploidies as well as microdeletion and duplication syndromes. In reproducibility studies, CNV copy number and genomic intervals closely matched those defined by chromosome microarray analysis. Clinical testing of genomic DNA samples from 217 women referred for prenatal diagnosis identified eight samples (3.7%) with known chromosome disorders. We conclude that PCR-free-based rCNV-seq is a sensitive, specific, reproducible and efficient method that can be used in any NGS-based diagnostic laboratory for detection of clinically significant CNVs.
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