ArticleJournal of clinical medicine2023
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.
Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Rare variants ofFrontiers in cell and developmental biology · 2026Article
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- 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 chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats.Molecular cytogenetics · 2025Article
- Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.BMC medical genomics · 2025Article
- Analysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage.International journal of women's health · 2025Article
- Article
- Comparative prospective study on the clinical utility of G-banding and next-generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan.Reproductive medicine and biologyArticle
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Authors and funding
14 authors.
Funding
Abstract
During the period of 2018-2020, we first combined reported low-pass whole genome sequencing and NGS-based STR tests for miscarriage samples analysis. Compared with G-banding karyotyping, the system increased the detection rate of chromosomal abnormalities in miscarriage samples to 56.4% in 500 unexplained recurrent spontaneous abortions. In this study, a total of 386 STR loci were developed on twenty-two autosomes and two sex chromosomes (X and Y chromosomes), which can help to distinguish triploidy, uniparental diploidy and maternal cell contamination and can trace the parental origin of erroneous chromosomes. It is not possible to accomplish this with existing methods of detection in miscarriage samples. Among the tested aneuploid errors, the most frequently detected error was trisomy (33.4% in total and 59.9% in the error chromosome group). In the trisomy samples, 94.7% extra chromosomes were of maternal origin and 5.31% were of paternal origin. This novel system improves the genetic analysis method of miscarriage samples and provides more reference information for clinical pregnancy guidance.
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