Genomics of pregnancy loss

Pregnancy loss is the most common obstetric complication occurring in almost 15% of pregnancies. Of the examined products of conception (POC), approximately 60% of pregnancy losses result from chromosomal abnormalities and copy number variations (CNVs) in embryos, but genetic etiologies of euploid pregnancy loss remain largely unexplained. Previous studies suggest that genetic factors make a significant contribution to embryonic mortality. We aimed to review the results of current genomic studies of gene variants associated with miscarriage, including exome sequencing to look for pathogenic variants in the whole exome, as well as high-coverage whole-genome sequencing in families with miscarriages. We compared the lists of genes causative of or predisposing to miscarriage in parents and POCs. Additionally, we summarize novel genetic variants, which may be responsible for embryonic aneuploidy according to WES/WGS studies. Identification of genes that contribute to pregnancy loss is of importance in understanding the biological pathways that can cause pregnancy loss and an informative approach for discovering the key genes for human development. Knowledge of specific genes that contribute to pregnancy loss could also be valued in designing a diagnostic sequencing panel for patients with recurrent pregnancy loss.

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