Twinning in muskox and the cytogenetic investigation of a freemartin

The occurrence of twinning has been documented for muskox in both wild and captive populations. Of two known captive twin births only one set survived beyond 120 days. In both cases the twins were male-female pairs and both females showed abnormal sexual development. Two sets of stillborn twins have also been recorded. All four stillborn fetuses were female and none showed anomalies of the reproductive tract upon post-mortem examination. Blood cultures from the surviving male and female twins revealed that both were chimeric, indicating the admixture of fetal blood. Fibroblast cultures were normal for the respective sex of each individual. The freemartin heifer had anatomical abnormalities of the clitoris as well as the secondary sex characteristics of a male

Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse

The first 8 weeks 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; 14–65 days 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