ArticleMolecular cytogenetics2016
Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.International journal of women's health · 2026Article
- ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing.Journal of translational medicine · 2025Article
- Experience of copy number variation sequencing applied in spontaneous abortion.BMC medical genomics · 2024Article
- Genetic analysis of chorionic villus tissues in early missed abortions.Scientific reports · 2023Article
- Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.Balkan journal of medical genetics : BJMG · 2023Article
- A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss.Frontiers in genetics · 2023Article
- Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China.Frontiers in genetics · 2023Article
- Chromosomal analysis of 262 miscarried conceptuses: a retrospective study.BMC pregnancy and childbirth · 2022Article
- Majority of transferred mosaic embryos developed healthy live births revealed by a preclinical study using embryonic morphology assessment and noninvasive PGT-A on cell-free DNA in blastocoel fluid.Journal of assisted reproduction and genetics · 2022Article
- Chromosomal Copy Number Variation Analysis in Pregnancy Products from Recurrent and Sporadic Miscarriage Using Next-Generation Sequencing.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2022Article
- Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.The journal of gene medicine · 2021Article
- Copy number variation sequencing combined with quantitative fluorescence polymerase chain reaction in clinical application of pregnancy loss.Journal of assisted reproduction and genetics · 2021Article
- Comparative clinical genetic testing in spontaneous miscarriage: Insights from a study in Southern Chinese women.Journal of cellular and molecular medicine · 2021Article
- Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.Genes · 2021Article
- Chromosomal copy number analysis of products of conception by conventional karyotyping and next-generation sequencing.Reproductive medicine and biology · 2021Article
- Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.Molecular medicine reports · 2020Article
- Analysis of Chromosomal Copy Number in First-Trimester Pregnancy Loss Using Next-Generation Sequencing.Frontiers in genetics · 2020Article
- Chromosomal copy number variations in products of conception from spontaneous abortion by next-generation sequencing technology.Medicine · 2019Article
- Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.BMC medical genetics · 2018Article
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Authors and funding
10 authors.
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Abstract
backgroundAbout 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages.
resultsFour hundred and thirty-six CVSs from early spontaneous abortion were collected. Genomic DNA was extracted using a routine method, and the chromosomal copy number variants (CNVs) were analyzed by array CGH and NGS. Two hundred and twenty-five samples (51.6 %) with abnormal chromosomes were identified among 436 samples, of which 188 samples (41.3 %) were aneuploidy, 23 samples (5.3 %) were segmental deletion and/or duplication cases, and 14 samples (3.2 %) were triploid. Two of the three cases with small segmental deletion and duplication were validated to be transferred from their fathers who were carriers of submicroscopic reciprocal translocation.
conclusionA high chromosomal abnormality detection rate on CVSs from early spontaneous miscarriage was achieved by array CGH and NGS. Specifically, the detection of submicroscopic recombination, which is sometimes missed by conventional karyotyping, was important for genetic counseling for the couples that suffered from recurrent miscarriages.
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