Case Report: Infertility and Recurrent Implantation Failure

Introduction: Couples, male or female, with balanced translocations have a risk for recurrent pregnancy losses, affected child, and infertility. Chromosomally abnormal embryos is a common cause for IVF failure. Currently, genetic counseling is based on karyotypes found among the products of conception.Case report: A healthy couple referred after ۱۸ months of infertility. In semen analysis, the male was oligosperm. They were referred for IVF. Only one embryo reached ۱۳ weeks, which was aborted. The aborted embryo was checked at their own request. MLPA finding was compatible with partial trisomy of chromosome ۱۳q. To find its origin, karyotyping was done for the couple, the female was normal ۴۶, XX, but the male had balanced Robertsonian translocation ۴۵, XY, rob(۱۳, ۱۴)(q۱۰, q۱۰). Balanced carriers of Robertsonian translocation s are usually asymptomatic . they are, however , at a high risk of pregnancy loss or the productionof abnormal offspring due to unbalanced segregations. Carriers of a balanced (۱۳, ۱۴) have a risk for trisomy ۱۳ in their liveborn children of approximately ۱۰% fo female carriers and less than ۱% for male carriers, and they are also at a high risk of recurrent abortions.PGD is therefor indicated to prevent possible unbalanced outcomes. However, successful pregnancies are also possible when the couple accept the above risk. Given the familial origin of the most translocations, chromosome analysis of the patient’s first-degree biological relatives should be considered. Genetic counseling in either case is suggested.

کلیدواژه ها:

Infertility ، genetic counseling ، chromosome translocation ، IVF failure