[Value of karyotyping women patients of couples referred for sterility]

Abstract

It has been known for some 25 years that there is a causal relation between chromosomal aberrations and male infertility and that the major indication for karyotyping an infertile man is still usually an abnormal sperm analysis. The value of karyotyping women in the routine work-up of couples referred for sterility has long been debated. A French recent cytogenetic study found an overall increased frequency of chromosomal aberrations in the female and confirmed that in some cases of poor reproductive outcome there may be a contribution of maternal chromosome aberrations. Indeed, the existence of a chromosome abnormality in the female partner was associated with the group of infertile men in which there was no apparent cause of infertility. These results emphasise the need for thorough genetic work-up in couples referred for sterility. This work-up should include karyotyping of the female for some indications explained in this work.