Accuracy of preimplantation genetic diagnosis in equine in vivo-recovered and in vitro-produced blastocysts.

This study examined the accuracy of preimplantation genetic diagnosis in horse embryos, specifically comparing the results between in vitro-produced and in vivo-recovered blastocysts. The researchers found that whole-genome amplification using the Qiagen Repli-g Midi kit was more accurate compared to other methods.

Objective of the Study

• This research aimed to evaluate the precision of preimplantation genetic diagnosis in horse embryos, particularly focusing on the two types of embryos: in vitro-produced (IVP) and in vivo-recovered (VIV) blastocysts.

Methodology

• Researchers performed biopsies on blastocysts using a Piezo drill, a precision tool used in embryo biopsies.
• They used two methods for whole-genome amplification (WGA), a process to increase DNA content: the Qiagen Repli-g Midi kit, and the Illustra Genomiphi V2 kit.
• In total, 33 genetic loci (locations of genes on a chromosome) were compared between IVP and VIV blastocysts.
• Some of the embryos were produced using semen from stallions carrying certain genetic mutations, such as hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP), and polysaccharide storage myopathy 1 (PSSM1).

Results

• The researchers discovered that WGA utilizing the Qiagen kit showed a higher degree of accuracy compared to the other kit; 98.2% versus 25.8%, respectively.
• The evaluation of three biopsy samples each from eight IVP and 19 VIV blastocysts were conducted successfully with 95% overall accuracy.
• A total of 81 biopsy samples were assessed, and only three samples (3.7%) differed from the expected results.

Conclusion

• Based on the results, the study concluded that this technique is suitable for use in a clinical setting.
• It significantly contributes to the understanding of equine embryology, genetics, and possible prevention or treatment of specific genetic diseases in horses.