Purpose: To examine the major chromosomal abnormalities and chromosome polymorphism in couples with recurrent miscarriagesand provide valuable information for their genetic counselling.
Methods: 1543 couples with three or more times of spontaneous abortions were analysed using Gbanding and fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) where ever necessary at the Renmin Hospital of Hubei from January 2012 to December 2014.
Results: Chromosomal anomalies were detected in 314 cases. The abnormalities in number of chromosome were detected in 7 patients. The abnormalities in chromosome structure were detected in 68 cases, including 7 cases for Robertsonian translocation58 cases for reciprocal translocationone case for deletionone case for marker chromosome and one case for chromosomal inversion. Chromosome polymorphisms were detected in 239 patients. This study describes majority of the anomalous cases (except chromosome polymorphism) were balanced reciprocal translocations. Among the abnormal karyotypes we also report two previously undescribed balanced human karyotype.
Conclusions: These findings suggest that chromosomal analysis in couples with recurrent miscarriages should be taken up by all the practioners at all levels. Genetic counsellors should pay attention to the chromosome polymorphism in the couples with recurrent miscarriages.