ArticleNature medicine2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Article in Nature medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis.Prenatal diagnosis · 2025Pooled it
- Spent Culture Medium miR-372-3p Is Associated with Blastocyst Morphology and Morphokinetic Dynamics in Human Embryos.Diagnostics (Basel, Switzerland) · 2026Article
- Placental molecular subtypes of severe preeclampsia reveal divergent aging trajectories and fetal growth outcomes.medRxiv : the preprint server for health sciences · 2026Article
- Enhanced genetic diagnosis in early pregnancy loss: an integrated approach using CNV-Seq and STR genotyping.Reproductive biology and endocrinology : RB&E · 2026Article
- Genomic stability of human pluripotent stem cells: advances in research and screening criteria.Stem cells translational medicine · 2026Review
- Retrospective Analysis of 1168 Cases of Ovular Decidual Tissue from First-Trimester Abortions: Proposal for a Histopathological Diagnostic Framework.Diagnostics (Basel, Switzerland) · 2026Article
- Euploid sporadic miscarriage in advanced-age women is associated with reduced live birth rates in subsequent pregnancies.BMC pregnancy and childbirth · 2026Article
- Exploring the increasing aneuploidy stress effects on embryo morphokinetic development: non-linear and stage-specific disruption in developmental timing.Journal of assisted reproduction and genetics · 2026Article
- Miscarriage and the Microbiome: Host Genetics, Immunity, and the Reproductive Tract Ecosystem.Genes · 2026Review
- Miscarriage Tissue Research: Still in Its Infancy.Life (Basel, Switzerland) · 2026Review
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Trajectories of Maternal Placental Growth Factor Levels from Early to Late Pregnancy: Prenatal Factors and Adverse Perinatal Outcomes.International journal of women's health · 2026Article
- Application of non-invasive preimplantation genetic screening for aneuploidy through spent embryo culture media analysis at 48 and 54 hours after embryo cleavage.British journal of biomedical science · 2026Article
- Adenosine triphosphate-binding cassette transporters: key players in maintaining fetal health during pregnancy.Frontiers in endocrinology · 2026Review
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- miR-142-3p regulates RDH13 to impair trophoblast function via regulating CDH5/LFA-1/L-SELECTIN axis: a novel mechanism and diagnostic/therapeutic for pre-eclampsia.Frontiers in medicine · 2026Article
- Direct and indirect evidence for pyroptosis and immune dysregulation in IVF/ICSI-ET-related early pregnancy loss.Frontiers in immunology · 2026Review
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq.BMC pregnancy and childbirth · 2025Article
- STR genotyping diagnosis of hydatidiform moles: an assessment of 2871 consecutive products of conceptions.Virchows Archiv : an international journal of pathology · 2025Article
Corrections and comments
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Authors and funding
26 authors at 7 institutions in 5 countries.
Funding
Abstract
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development remain elusive. In this study, we analyzed 1,745 spontaneous pregnancy losses and found that roughly half (50.4%) of the products of conception (POCs) were karyotypically abnormal, with maternal and paternal age independently contributing to the increased genomic aberration rate. We applied genome haplarithmisis to a subset of 94 pregnancy losses with normal parental and POC karyotypes. Genotyping of parental DNA as well as POC extra-embryonic mesoderm and chorionic villi DNA, representing embryonic and trophoblastic tissues, enabled characterization of the genomic landscape of both lineages. Of these pregnancy losses, 35.1% had chromosomal aberrations not previously detected by karyotyping, increasing the rate of aberrations of pregnancy losses to 67.8% by extrapolation. In contrast to viable pregnancies where mosaic chromosomal abnormalities are often restricted to chorionic villi, such as confined placental mosaicism, we found a higher degree of mosaic chromosomal imbalances in extra-embryonic mesoderm rather than chorionic villi. Our results stress the importance of scrutinizing the full allelic architecture of genomic abnormalities in pregnancy loss to improve clinical management and basic research of this devastating condition.
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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.