ArticleMolecular human reproduction2015
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
Article in Molecular human reproduction, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.Journal of assisted reproduction and genetics · 2019Pooled it
- Article
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans.American journal of human genetics · 2025Article
- Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.Journal of clinical laboratory analysis · 2025Article
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- 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
- Whole exome sequencing identifies a novel mutation inFrontiers in medicine · 2024Article
- Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management.Medical review (2021) · 2022Review
- Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.Prenatal diagnosis · 2022Review
- Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.Annals of translational medicine · 2022Article
- Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.Journal of medical genetics · 2021Article
- Cytogenetic signatures of recurrent pregnancy losses.Prenatal diagnosis · 2021Article
- Genetic Counseling and Assisted Reproductive Technologies.Cold Spring Harbor perspectives in medicine · 2020Review
- Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2020Article
- A potential new mechanism for pregnancy loss: considering the role of LINE-1 retrotransposons in early spontaneous miscarriage.Reproductive biology and endocrinology : RB&E · 2020Review
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- Emerging roles for nucleoporins in reproductive cellular physiologyCanadian journal of physiology and pharmacology · 2019Review
- Transcriptome profiling of human oocytes experiencing recurrent total fertilization failure.Scientific reports · 2018Article
- Molecular autopsy in maternal-fetal medicine.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Triploidy is a relatively common cause of miscarriage; however, recurrent triploidy has rarely been reported. A healthy 34-year-old woman was ascertained because of 18 consecutive miscarriages with triploidy found in all 5 karyotyped losses. Molecular results in a sixth loss were also consistent with triploidy. Genotyping of markers near the centromere on multiple chromosomes suggested that all six triploid conceptuses occurred as a result of failure to complete meiosis II (MII). The proband's mother had also experienced recurrent miscarriage, with a total of 18 miscarriages. Based on the hypothesis that an inherited autosomal-dominant maternal predisposition would explain the phenotype, whole-exome sequencing of the proband and her parents was undertaken to identify potential candidate variants. After filtering for quality and rarity, potentially damaging variants shared between the proband and her mother were identified in 47 genes. Variants in genes coding for proteins implicated in oocyte maturation, oocyte activation or polar body extrusion were then prioritized. Eight of the most promising candidate variants were confirmed by Sanger sequencing. These included a novel change in the PLCD4 gene, and a rare variant in the OSBPL5 gene, which have been implicated in oocyte activation upon fertilization and completion of MII. Several variants in genes coding proteins playing a role in oocyte maturation and early embryonic development were also identified. The genes identified may be candidates for the study in other women experiencing recurrent triploidy or recurrent IVF failure.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.