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Related Experiment Videos

Genetics of abnormal human fertilization

G D Palermo1, S Munné, L T Colombero

  • 1Center for Reproductive Medicine and Infertility, New York Hospital-Cornell Medical Center, NY 10021-4872, USA.

Human Reproduction (Oxford, England)
|October 1, 1995
PubMed
Summary

Assessing genetic status in abnormal zygotes reveals dispermic embryos can be corrected via enucleation, while monopronucleated zygotes from standard insemination are viable. Digynic embryos often become diploid after female pronucleus removal, indicating potential for correction.

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Area of Science:

  • Embryology
  • Reproductive Genetics
  • Assisted Reproductive Technology

Background:

  • Assisted fertilization techniques can result in abnormal zygotes with varying genetic compositions.
  • Understanding the genetic status of these abnormal zygotes is crucial for successful implantation and pregnancy outcomes.

Purpose of the Study:

  • To evaluate the genetic makeup of abnormal zygotes, including dispermic, monopronucleated, and digynic types, following assisted fertilization.
  • To determine the impact of enucleation on the genetic status and viability of these abnormal zygotes.

Main Methods:

  • Multiplex polymerase chain reaction (PCR) and fluorescent in-situ hybridization (FISH) were performed on biopsied blastomeres.
  • Abnormal zygotes were analyzed intact or after enucleation to assess genetic status and mosaicism.

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Main Results:

  • Dispermic embryos typically had a male distal pronucleus; enucleation restored sex ratio but induced mosaicism.
  • Monopronucleated zygotes from standard in-vitro insemination usually possessed a normal diploid complement.
  • Intracytoplasmic sperm injection-derived single-pronucleated zygotes were often parthenogenetic, not fertilized.
  • Digynic embryos, mostly triploid, showed low mosaicism; enucleation of the female pronucleus resulted in diploidy.

Conclusions:

  • Enucleation can correct certain fertilization abnormalities like dispermy and digyny, though mosaicism may arise.
  • Monopronucleated zygotes from standard insemination are generally suitable for transfer.
  • Distinguishing between fertilization and activation is key for managing abnormal zygotes.