ArticlePrenatal diagnosis2021
Cytogenetic signatures of recurrent pregnancy losses.
Article in Prenatal diagnosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Miscarriage and the Microbiome: Host Genetics, Immunity, and the Reproductive Tract Ecosystem.Genes · 2026Review
- Assessing patient perceptions and understandings of genetic testing after pregnancy loss.Journal of assisted reproduction and genetics · 2025Article
- A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.Prenatal diagnosis · 2025Article
- Regulatory Mechanism and Drug Therapy of NLRP3 Inflammasome in Recurrent Pregnancy Loss: Research Status and Prospect.Journal of inflammation research · 2025Review
- Article
- Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages.Global medical genetics · 2024Article
- The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss.Genetics research · 2023Review
- Maternal and Perinatal Risk Factors for Infantile Hemangioma: A Matched Case-Control Study with a Large Sample Size.Dermatology and therapy · 2022Article
- Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss.Prenatal diagnosis · 2021Article
- Reproductive outcomes in individuals with chromosomal reciprocal translocations.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
Abstract
objectivesTo investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL) and to determine biological mechanisms contributing to RPL.
methodsDuring a 20-year period, 12 096 POC samples underwent classical chromosome analysis. Cytogenetic findings were compared between the SM and RPL cohorts.
resultsAnalysis of RPL cohort has identified an increased incidence of inherited and de novo structural chromosome abnormalities, recurrent polyploid conceptions, and complex mosaic alterations. These abnormalities are the signature of genomic instability, posing a high risk of genetic abnormalities to offspring independent of maternal age. Predominance of male conceptions in the RPL cohort points toward an X-linked etiology and gender-specific intolerance for certain genetic abnormalities.
conclusionsOur study showed several possible genetic etiologies of RPL, including parental structural chromosome rearrangements, predisposition to meiotic nondisjunction, and genomic instability. Loss of karyotypically normal fetuses might be attributed to defects in genes essential for fetal development, as well as aberrations affecting the X chromosome. Molecular studies of parental and POC genomes will help to identify inherited defects in genes involved in meiotic divisions and DNA repair to confirm our hypotheses, and to discover novel fetal-essential genes.
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