Whole exome sequencing of families with recurrent pregnancy loss

Recurrent pregnancy loss (RPL) is a complex reproductive disorder with diverse genetic causes. To explore the molecular basis of RPL, we performed trio-based whole exome sequencing (WES) on six families in which the parents experienced two or more consecutive miscarriages. The study aimed to identify rare pathogenic or likely pathogenic variants that may contribute to early embryonic developmental failure. These WES data provide valuable genomic resources for investigating single-gene defects and biological pathways involved in miscarriage and may enhance understanding of the genetic etiology of RPL, thereby supporting improved reproductive risk assessment and prenatal diagnosis in affected families.