First successful pregnancy following PGD for chromosome translocation on embryos generated from in-vitro matured oocytes: a case report

As far as is known, this is the first report of a successful pregnancy outcome following preimplantation genetic diagnosis for a chromosome translocation in embryos generated from in-vitro matured oocytes. A couple presented to the study clinic where the female partner was a carrier of the reciprocal chromosome translocation 46,XX,t(1;20)(p36.1;p12.2) with three consecutive pregnancy terminations due to either fetal abnormality or unbalanced translocation products detected in the conceptus. Under routine ultrasound investigation she was diagnosed with polycystic ovaries. The patient underwent an in-vitro maturation/preimplantation genetic diagnosis cycle where the immature oocytes were matured in vitro and fertilized by intracytoplasmic sperm injection. Day-3 embryos were screened for the chromosome abnormality by fluorescent in-situ hybridization. A single embryo diagnosed as chromosomally normal/balanced was transferred on day 5 and resulted in the birth of a healthy child.We report the first-known successful pregnancy following preimplantation genetic diagnosis for chromosome translocation in embryos generated from in-vitro matured oocytes. A couple presented to our clinic where the female partner was a carrier of a chromosome translocation. They had had an uneventful first pregnancy resulting in the birth of a healthy girl, then three consecutive pregnancy terminations due to fetal abnormality or unbalanced translocation detected in the conceptus. The female patient was diagnosed with polycystic ovaries under routine ultrasound investigation and semen analysis for male patient was normal. The patient underwent in-vitro maturation (IVM), where the immature oocytes were matured in vitro and fertilized by intracytoplasmic sperm injection, and preimplantation genetic diagnosis (PGD). Day-3 embryos were screened for chromosome abnormality by fluorescence in-situ hybridization. A single embryo diagnosed as chromosomally normal/balanced was transferred on day 5 and resulted in the birth of a healthy child. The success of the present case study shows that IVM can be offered to patients with polycystic ovaries undergoing PGD for other genetic diseases.