Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse. Academic Article uri icon


  • The first 8weeks of pregnancy is a critical time, with the majority of pregnancy losses occurring during this period. Abnormal chromosome number (aneuploidy) is a common finding in human miscarriage, yet is rarely reported in domestic animals. Equine early pregnancy loss (EPL) has no diagnosis in over 80% of cases. The aim of this study was to characterise aneuploidies associated with equine EPL. Genomic DNA from clinical cases of spontaneous miscarriage (EPLs; 14-65days of gestation) and healthy control placentae (various gestational ages) were assessed using a high density genotyping array. Aneuploidy was detected in 12/55 EPLs (21.8%), and 0/15 healthy control placentae. Whole genome sequencing (30X) and digital droplet PCR (ddPCR) validated results. The majority of these aneuploidies have never been reported in live born equines, supporting their embryonic/fetal lethality. Aneuploidies were detected in both placental and fetal compartments. Rodents are currently used to study how maternal ageing impacts aneuploidy risk, however the differences in reproductive biology is a limitation of this model. We present the first evidence of aneuploidy in naturally occurring equine EPLs at a similar rate to human miscarriage. We therefore suggest the horse as an alternative to rodent models to study mechanisms resulting in aneuploid pregnancies.

published proceedings

  • Sci Rep

altmetric score

  • 9.55

author list (cited authors)

  • Shilton, C. A., Kahler, A., Davis, B. W., Crabtree, J. R., Crowhurst, J., McGladdery, A. J., ... de Mestre, A. M.

citation count

  • 18

complete list of authors

  • Shilton, Charlotte A||Kahler, Anne||Davis, Brian W||Crabtree, James R||Crowhurst, James||McGladdery, Andrew J||Wathes, D Claire||Raudsepp, Terje||de Mestre, Amanda M

publication date

  • January 2020