Chromosome translocations in couples with multiple spontaneous abortions

Area of Science:

• Genetics
• Reproductive Medicine
• Cytogenetics

Background:

• Recurrent spontaneous abortions (SABs) affect 0-31% of couples.
• Balanced chromosomal translocations are a known cause of SABs.
• Identifying translocations aids in genetic counseling for affected couples.

Purpose of the Study:

• To investigate the incidence of balanced translocations in couples with a history of multiple SABs.
• To determine if the number of SABs correlates with translocation rates.
• To assess translocation rates based on offspring outcomes.

Main Methods:

• Chromosome analysis of blood samples from 440 individuals (200 couples).
• Couples were selected based on having two or more SABs.
• Detailed reproductive histories and offspring status were analyzed.

Main Results:

• Balanced translocations were identified in 3.6% of the 200 couples.
• Incidence varied with the number of SABs: 8.4% for two, 2.7% for three, 10% for four, and 5.9% for five or more.
• Translocation rates were similar across different offspring outcomes (healthy, abnormal, or no other pregnancies).

Conclusions:

• Couples experiencing multiple SABs have a significant incidence of balanced translocations.
• SABs serve as a valuable indicator for identifying balanced translocations.
• Genetic evaluation is crucial for couples with recurrent pregnancy loss to guide reproductive decisions.