Genomics of pregnancy loss.
Level 5 - mechanism / opinion, no new human data
Narrative review of genomic studies without systematic methodology or primary patient data
PubMed 41134463 · doi:10.1007/s10815-025-03726-9
What was done
This narrative review synthesized recent genomic studies investigating genetic variants associated with miscarriage. The authors reviewed whole-exome sequencing (WES) and high-coverage whole-genome sequencing (WGS) data from families experiencing miscarriages and products of conception (POC), comparing lists of causative and predisposing genes in parents versus POC, and reviewing novel variants linked to embryonic aneuploidy.
What was found
The abstract reports background context indicating that pregnancy loss occurs in approximately 15% of pregnancies, with chromosomal abnormalities and copy number variations (CNVs) accounting for roughly 60% of examined POC. The abstract provides no specific quantitative meta-analytic data or pooled effect sizes for the novel candidate genes identified via WES and WGS.
Why it matters
Clarifying the specific monogenic and genomic drivers of euploid pregnancy loss helps uncover essential pathways in early human development and provides targets for developing diagnostic sequencing panels for recurrent pregnancy loss.
Limits
The abstract describes a non-systematic review without defined search criteria, quality appraisal of included studies, or quantitative pooled metrics. Broad clinical utility remains limited by the exploratory nature of many candidate variant associations.
Cited by
- supports The primary cause of pregnancy loss is random genetic abnormality in the embryo.