Evidence map›Paper›PMID 41256177›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Genetic Variants in Recurrent Euploid Pregnancy Loss.

Mona Aminbeidokhti, Michelle Halstead, Marta Rodriquez-Escriba, Christina G Tise, Jonathan A Bernstein, Hakan Cakmak, Elizabeth Pollard, Linda C Giudice, Katrina Merrion, Gary M Shaw and 9 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Mona AminbeidokhtiDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Michelle HalsteadDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Marta Rodriquez-EscribaDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Christina G TiseDepartment of Pediatrics, Stanford University, Stanford, CA.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, CA.
Hakan CakmakDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA.
Elizabeth PollardDepartment of Genetics, School of Medicine, Stanford University, Stanford, CA.
Linda C GiudiceDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA.
Katrina MerrionNatera, San Carlos, CA.
Gary M ShawDepartment of Pediatrics, Stanford University, Stanford, CA.
Alison EdelmanDepartment of Obstetrics and Gynecology, Oregon Health & Science University, Portland, OR.
Maureen BaldwinDepartment of Obstetrics and Gynecology, Oregon Health & Science University, Portland, OR.
David K StevensonDepartment of Pediatrics, Stanford University, Stanford, CA.
Mary StephensonDepartment of Obstetrics and Gynecology, University of Illinois at Chicago, Chicago, IL.
Michael P SnyderStanford Maternal & Child Health Research Institute, Stanford University School of Medicine, Stanford, CA.
Marina SirotaDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA.
Ruth B LathiStanford Maternal & Child Health Research Institute, Stanford University School of Medicine, Stanford, CA.
Svetlana A YatsenkoStanford Maternal & Child Health Research Institute, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0003-4809-8601
Aleksandar RajkovicDepartment of Pathology, University of California San Francisco, San Francisco, CA.ORCID 0000-0002-1710-4389

Funding

Trio Analysis of Recurrent Pregnancy Loss Integrated Bioinformatics Genomics Study (TRIOS)R01HD105256 · NICHD · STANFORD UNIVERSITY · PI LATHI, RUTH B, RAJKOVIC, ALEKSANDAR · 2021 to 2025
$7.0M
NICHD NIH HHS R01 HD105256
6 · The paper itself

Abstract

Recurrent pregnancy loss (RPL) affects ~5% of women, yet the genetic basis of euploid losses remains unclear. We performed genome sequencing in 118 families with unexplained euploid RPL, most without fetal anomalies. We identified genomic variants in 30 families (25.4%) across 28 genes. Thirteen genes were previously linked to perinatal lethality, while fifteen were novel. Inherited variants accounted for 83.3% (25/30) of families, including two due to parental germline mosaicism, seven heterozygous variants transmitted from affected or asymptomatic parents, five cases with hemizygous variants, and 11 with biallelic variants. Four additional families (3.4%) had biparental ultra-rare variants in genes not yet associated with any human disease but with plausible roles in prenatal lethality. Transcriptomic analyses implicated roles in hematopoiesis, cardiovascular development, inflammation, and fluid homeostasis. We identified monogenic basis in a quarter of unexplained euploid RPL cases and expanded our understanding of early human lethality, recurrence risk, and inheritance patterns.

Identifiers

PMID41256177
PMCPMC12622121

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Registered trials

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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.