Genomics of pregnancy loss

Area of Science:

• Genetics
• Reproductive Medicine
• Obstetrics

Background:

• Pregnancy loss affects ~15% of pregnancies, with ~60% of embryonic losses due to chromosomal abnormalities.
• The genetic causes of euploid (normal chromosome number) pregnancy loss are not well understood.
• Genetic factors are increasingly recognized as significant contributors to embryonic mortality.

Purpose of the Study:

• To review current genomic studies identifying gene variants associated with miscarriage.
• To explore genetic etiologies of euploid pregnancy loss.
• To identify genes contributing to embryonic aneuploidy and human development.

Main Methods:

• Review of exome sequencing (WES) and whole-genome sequencing (WGS) studies.
• Comparison of gene variant lists from parents and products of conception (POC).
• Analysis of novel genetic variants implicated in embryonic aneuploidy.

Main Results:

• Genomic studies are identifying specific gene variants linked to miscarriage.
• Comparison of parental and POC genetic data reveals causative or predisposing genes.
• Novel variants potentially responsible for embryonic aneuploidy have been identified via WES/WGS.

Conclusions:

• Understanding genes contributing to pregnancy loss is crucial for elucidating biological pathways.
• Identification of these genes can inform the development of diagnostic sequencing panels for recurrent pregnancy loss.
• Genomic insights are vital for advancing reproductive medicine and understanding early human development.