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Scientific reports2020; 10(1); 13314; doi: 10.1038/s41598-020-69967-z

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

Abstract: 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.
Publication Date: 2020-08-07 PubMed ID: 32769994PubMed Central: PMC7415156DOI: 10.1038/s41598-020-69967-zGoogle Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research study focuses on analyzing aneuploidy – the condition of having an abnormal number of chromosomes, and its potential role in early pregnancy loss in horses. The study finds a significant correlation between aneuploidy and early pregnancy loss (up to 8 weeks), proposing the horse as a valuable alternative to rodents as a research model for investigating the influences in aneuploid pregnancies.

Objective of the Study

  • The primary aim of this study is to identify and understand the role of aneuploidies (abnormal number of chromosomes) in equine early pregnancy loss (EPL). To achieve this, the researchers compared the genomes of samples from horses who had suffered early miscarriages with those of healthy pregnancies.

Methodology

  • The researchers used a high-density genotyping array to assess genomic DNA derived from clinical cases of spontaneous miscarriage (between 14-65 days of gestation) and from healthy control placentae of various gestational ages.
  • Furthermore, techniques such as whole-genome sequencing (30X) and digital droplet PCR (ddPCR) were employed to validate the results obtained from the genotyping array.

Results and Findings

  • The study found that aneuploidy was present in 12 of the 55 miscarriage cases (21.8%), while none were detected in the 15 healthy control placentae.
  • Most of the detected aneuploidies had never been reported in live-born equines, suggesting their possible role in causing embryonic/fetal lethality.
  • The researchers found such anomalies in both the placental and fetal compartments, indicating the widespread nature of these abnormalities.

Conclusion and Further Research

  • Based on these findings, this study presents the first evidence of aneuploidy in naturally occurring equine EPLs at a similar rate to human miscarriage.
  • Given the significant similarities in reproductive biology between humans and horses, the study suggests the utility of the horse as an alternative research model to rodents for studying the mechanisms leading to aneuploid pregnancies.

Cite This Article

APA
Shilton CA, Kahler A, Davis BW, Crabtree JR, Crowhurst J, McGladdery AJ, Wathes DC, Raudsepp T, de Mestre AM. (2020). Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse. Sci Rep, 10(1), 13314. https://doi.org/10.1038/s41598-020-69967-z

Publication

ISSN: 2045-2322
NlmUniqueID: 101563288
Country: England
Language: English
Volume: 10
Issue: 1
Pages: 13314
PII: 13314

Researcher Affiliations

Shilton, Charlotte A
  • Department of Comparative Biomedical Sciences, The Royal Veterinary College, University of London, London, UK.
Kahler, Anne
  • Department of Comparative Biomedical Sciences, The Royal Veterinary College, University of London, London, UK.
Davis, Brian W
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, USA.
Crabtree, James R
  • Equine Reproductive Services (UK) Ltd., North Yorkshire, UK.
Crowhurst, James
  • Newmarket Equine Hospital, Newmarket, Suffolk, UK.
McGladdery, Andrew J
  • Rossdales Equine Practice, Newmarket, UK.
Wathes, D Claire
  • Department of Production and Population Health, The Royal Veterinary College, University of London, Hatfield, UK.
Raudsepp, Terje
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, USA.
de Mestre, Amanda M
  • Department of Comparative Biomedical Sciences, The Royal Veterinary College, University of London, London, UK. ademestre@rvc.ac.uk.

MeSH Terms

  • Abortion, Veterinary / genetics
  • Abortion, Veterinary / pathology
  • Aneuploidy
  • Animals
  • Female
  • Genome
  • Genome-Wide Association Study
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horses
  • Pregnancy
  • Whole Genome Sequencing

Grant Funding

  • TBA/EPL/2018 / The Thoroughbred Breeders Association

Conflict of Interest Statement

The authors declare no competing interests.

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