Recurrent miscarriage is known to be associated with parental chromosomal a
bnormalities, particularly balanced reciprocal and Robertsonian translocati
ons. The aim of this study was to test the hypothesis that couples with in-
vitro fertilization (IVF) implantation failure, like those with recurrent m
iscarriage, have a higher than expected prevalence of translocations which
may impact on pregnancy outcome. Patients who previously had at least 10 em
bryos transferred without achieving clinical pregnancy were evaluated for c
hromosome abnormalities as part of screening investigations for implantatio
n failure. Recurrent miscarriage patients with a history of at least three
consecutive first-trimester abortions were also tested, Results were compar
ed to reports of infertility patients presenting for treatment and populati
on neonatal screening programmes. Chromosomal abnormalities overall were de
tected in 13/514 individuals with implantation failure (2.5%), and 15/319 i
ndividuals with recurrent miscarriage (4.7%), Translocations (reciprocal an
d 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 misc
arriage. Balanced parental translocations may be implicated in the pathogen
esis of IVF-implantation failure, Genetic evaluation should be considered a
s part of the investigation of these patients.