Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages

Introduction: This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages. Methods: 56 couples with a history of at least two previous miscarriages were evaluated for prevalence and types of chromosomal abnormalities from their karyotype records. The study was a retrospective one, and subsequent reproductive outcome after a period of 12-24 months from the time of karyotyping was obtained by telephone interviews and scrutiny of the case records. The comparison of reproductive outcome was done by chi-square statistics. Results : Five couples (8.9 percent) had a chromosomal abnormality in one partner. Three cases of reciprocal translocations t(5; 11), t(9; 14), dup(9q); one Robertsonian D/D translocation 13/14; and one mosaic Down syndrome male karyotype were found. Among the 32 couples available for follow-up, there was a lower incidence of subsequent live healthy births among chromosomally-normal couples (35.7 percent) compared to chromosomally-abnormal ones (25 percent). However, the difference was not statistically significant (p-value is 1.0). There was a lower incidence of subsequent abortions in chromosomally-normal couples (42.8 percent) compared to chromosomally-abnormal ones (50 percent), but the difference was also not statistically significant (p-value is 1.0). Conclusion: Chromosomal abnormalities were seen in 8.9 percent of the couples, and translocations were the commonest abnormality found. The frequencies of subsequent live healthy births and subsequent abortions showed no significant difference between couples having normal karyotypes and those having chromosomal abnormality in one partner.