ArticleMolecular medicine reports2018
Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion.
Article in Molecular medicine reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Clinical significance of plasma SERPINA3 in patients with missed miscarriage.Frontiers in medicine · 2026Article
- Monogenic Findings in Early Pregnancy Loss: Whole-Exome Sequencing Study of Euploid Products of Conception.Balkan journal of medical genetics : BJMG · 2025Article
- Association between aquaporin 3 and transforming growth factor-beta 1 levels in decidual tissue and serum of patients with missed abortion.Frontiers in medicine · 2025Article
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses.Balkan journal of medical genetics : BJMG · 2024Article
- Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.BMC medical genomics · 2023Article
- Prioritization of putatively detrimental variants in euploid miscarriages.Scientific reports · 2022Article
- How many missed abortions are caused by embryonic chromosomal abnormalities and what are their risk factors?Frontiers in genetics · 2022Article
- Case Report: Novel compound heterozygous variants inFrontiers in genetics · 2022Article
- Molecular autopsy by proxy in preconception counseling.Clinical genetics · 2021Article
- RNA Sequencing of Decidua Reveals Differentially Expressed Genes in Recurrent Pregnancy Loss.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.Scientific reports · 2021Article
- Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Imbalance of the Gut Microbiota May Be Associated with Missed Abortions: A Perspective Study from a General Hospital of Hunan Province.Journal of immunology research · 2021Article
- The expression and clinical significance of three lncRNAs in patients with a missed abortion.Experimental and therapeutic medicine · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Missed abortion (MA) refers to a pregnancy in which there is fetal demise without outside intervention, and additionally no uterine activity that may expel the product of conception (POC) prior to 20 weeks of gestation. Chromosomal abnormalities are the primary cause of MA and single gene defects in the POC may additionally be associated with MA; however, few studies have been conducted on the identification of mutations by whole‑exome sequencing. In the present study, 19 unrelated MA POCs were collected and whole‑exome sequencing was performed on the POC. Bioinformatics analysis was performed on sequence variants from a list of 286 selected candidate genes that were associated with early embryonic lethality and MA. A total of 36 sequence variants in 32 genes potentially associated with MA were identified in 15 out of 19 patients. Gene Ontology analysis suggested that these genes were enriched in biological processes in early embryonic development, including 'chordate embryonic development', 'cell proliferation' and 'forebrain development'. Further strict in silico bioinformatics analysis predicted that the LIM domain‑binding protein 1 (c.662C>T; p.S221L) variant was a highly pathogenic variant. In conclusion, the results of the present study provide researchers and clinicians with a better understanding of the etiology and molecular mechanism of human embryonic lethality and MA.
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