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Implications of sperm chromosome abnormalities in recurrent miscarriage
Journal of Assisted Reproduction and Genetics
|May 21, 1999
Summary
Sperm chromosome abnormalities, including sex chromosome disomy and diploidy, are more common in couples experiencing recurrent pregnancy loss. These findings suggest a potential link between sperm aneuploidy and repeated miscarriages in assisted reproduction programs.
Area of Science:
- Reproductive biology
- Human genetics
- Assisted reproduction technologies
Background:
- Recurrent pregnancy loss (RPL) affects couples undergoing assisted reproduction.
- The role of sperm chromosome abnormalities in RPL is not fully understood.
Purpose of the Study:
- To investigate the presence of sperm chromosome abnormalities in couples with a history of recurrent pregnancy loss.
- To assess specific chromosomal aneuploidies in sperm samples within an in vitro fertilization program.
Main Methods:
- Prospective analysis of 12 sperm samples from couples with at least two first-trimester spontaneous abortions.
- Fluorescence in situ hybridization (FISH) used to evaluate diploidy and disomy for chromosomes 13, 18, 21, X, and Y in decondensed sperm nuclei.
- Comparison with internal control samples.
Main Results:
- Significantly increased sex chromosome disomy in sperm from RPL couples (0.84%) compared to controls (0.37%).
- In a subgroup of seven couples undergoing oocyte donation, sex chromosome disomy (1%) and diploidy (0.43%) were also significantly elevated.
- These findings indicate a higher prevalence of specific sperm aneuploidies in RPL cases.
Conclusions:
- Sperm chromosome abnormalities, particularly sex chromosome disomy and diploidy, are implicated in some instances of recurrent pregnancy loss.
- The study highlights a potential contribution of sperm aneuploidy to RPL within assisted reproduction contexts.