P-509 Genomic characterization of couples and their embryos/fetuses with idiopathic recurrent pregnancy loss

Abstract Study question To what extent do genomic variants contribute to idiopathic recurrent pregnancy loss (RPL)? Summary answer Pathogenic uniparental disomy, copy number variations, and single nucleotide were identified in 18 of 83 couples their embryos/fetuses with RPL. What is known already RPL defined as the two or more pregnancies before 24 weeks gestation. The etiologies include antiphospholipid antibody syndrome, anatomic, endocrinological chromosomal abnormalities. About 50% unexplained termed Chromosomal aberrations genetic have been be associated RPL, demonstrating that factors underlie design, size, duration We applied genome sequencing study variations causing Couples collected sequenced. Genomic from women men experiencing analyzed fully characterize contribution Participants/materials, setting, methods recruited Chinese 249 samples peripheral blood. DNA those sequenced, pathogenic abnormalities identified. Main results role chance Generally, females, males embryos/fetuses. One 9 1 homozygous de novo (SNVs) 12 Five three SNVs 4 females 2 respectively. Many affect genes involved sexual development. In total, (21.69%) could explained by variation, providing information for clinical treatments. Limitations, reasons caution sample size relatively small, they are one medical center. Wider implications findings can cause identification causes will facilitate further precision intervention. Trial registration not applicable