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Chromosomal abnormalities in couples with recurrent abortions.

P S Low, J S Tay, M A Tan

The Journal of the Singapore Paediatric Society

|January 1, 1989

Summary

Genetic analysis of couples with recurrent miscarriages revealed chromosomal abnormalities in 1.1% of males. These balanced translocations may contribute to unexplained recurrent pregnancy loss.

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Area of Science:

Human Genetics
Reproductive Medicine
Cytogenetics

Background:

Recurrent spontaneous abortion (RSA) affects a significant number of couples seeking genetic counseling.
Identifying the underlying causes of RSA is crucial for reproductive planning and management.
Chromosomal abnormalities, particularly balanced translocations, are known risk factors for RSA.

Purpose of the Study:

To investigate the frequency of chromosomal abnormalities in couples experiencing recurrent spontaneous abortions.
To identify specific karyotype abnormalities in partners of couples with a history of multiple miscarriages.

Main Methods:

Chromosome banding studies (karyotyping) were performed on one or both partners from 126 couples.
A subset of 95 couples had experienced two or more spontaneous abortions.
Detailed analysis of obtained karyotypes to detect structural chromosomal rearrangements.

Main Results:

Abnormal karyotypes were identified in 2 out of 85 males studied, representing an overall frequency of 1.1%.
Both identified abnormalities were balanced translocations: 46 XY t(5q+ 11q-) and 45 XY t(13/14).
No chromosomal abnormalities were reported in the 92 women who underwent karyotyping.

Conclusions:

Balanced translocations in males can be a contributing factor to recurrent spontaneous abortions.
The observed frequency of 1.1% for chromosomal abnormalities in this RSA cohort aligns with existing literature.
Karyotyping remains an important diagnostic tool for couples with unexplained recurrent pregnancy loss.

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