Chromosome translocations in couples with in-vitro fertilization implantation failure

Abstract

Recurrent miscarriage is known to be associated with parental chromosomal abnormalities, particularly balanced reciprocal and Robertsonian translocations. The aim of this study was to test the hypothesis that couples with in-vitro fertilization (IVF) implantation failure, like those with recurrent miscarriage, have a higher than expected prevalence of translocations which may impact on pregnancy outcome. Patients who previously had at least 10 embryos transferred without achieving clinical pregnancy were evaluated for chromosome abnormalities as part of screening investigations for implantation failure. Recurrent miscarriage patients with a history of at least three consecutive first-trimester abortions were also tested. Results were compared to reports of infertility patients presenting for treatment and population neonatal screening programmes. Chromosomal abnormalities overall were detected in 13/514 individuals with implantation failure (2.5%), and 15/319 individuals with recurrent miscarriage (4.7%). Translocations (reciprocal and Robertsonian) were found in 7/514 individuals (1.4%) and 7/219 couples (3.2%) with implantation failure (P < 0.0005 compared with infertile controls and P < 0.0001 compared with screened neonates). Translocations were found in 13/319 individuals (4.1%) and 12/130 couples (9.2%) with recurrent miscarriage. Balanced parental translocations may be implicated in the pathogenesis of IVF-implantation failure. Genetic evaluation should be considered as part of the investigation of these patients.