ArticleThe Journal of international medical research2019
Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders.
Article in The Journal of international medical research, 2019. 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, 28 citations in OpenAlex.
- Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.Journal of assisted reproduction and genetics · 2025Article
- Analysis of copy number variants detected by sequencing in spontaneous abortion.Molecular cytogenetics · 2024Article
- Genetic profiling of azoospermic men to identify the etiology and predict reproductive potential.Journal of assisted reproduction and genetics · 2024Article
- Diagnostic yield of copy number variation sequencing in fetuses with increased nuchal translucency: a retrospective study.Archives of gynecology and obstetrics · 2024Article
- Genetic analysis of chorionic villus tissues in early missed abortions.Scientific reports · 2023Article
- A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests.Journal of clinical medicine · 2023Article
- Profiling the male germline genome to unravel its reproductive potential.Fertility and sterility · 2023Article
- Clinical Significance of Application of Chromosomal Karyotyping of Villus Tissues.International journal of women's health · 2023Article
- Genome-Wide Copy Number Variant and High-Throughput Transcriptomics Analyses of Placental Tissues Underscore Persisting Child Susceptibility in At-Risk Pregnancies Cleared in Standard Genetic Testing.International journal of molecular sciences · 2022Article
- Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.The journal of gene medicine · 2021Article
- Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion.The journal of obstetrics and gynaecology research · 2021Article
- Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy.Frontiers in genetics · 2021Article
- Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHigh-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities including aneuploidy. This study provides evidence for the prevalence of chromosomal abnormalities in target populations.
methodsA total of 160 samples, including 83 high-risk pregnancies, 37 spontaneous abortions, and 40 suspected genetic disorders, were analyzed by CNV-seq. Relationships between the incidence of these chromosomal abnormalities and risk factors (e.g. advanced maternal age, abnormal pregnancy history, and family history of congenital disease) were further analyzed by subgroup.
resultsA total of 37 (44.6%) high-risk pregnancies, 25 (67.6%) spontaneous abortions, and 22 (55%) suspected genetic disorders had chromosomal abnormalities including aneuploidy and CNVs. There was an increased risk association between the prevalence of aneuploidy and pathogenic-relevant CNV in the fetus or abortive tissue and advanced maternal age. Moreover, a family history of congenital disease was also positively correlated with fetal chromosomal abnormalities in high-risk pregnancies.
conclusionA relatively high prevalence of chromosomal abnormalities was detected in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders, indicating the importance of CNV detection in such populations.
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