Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

Abstract

AbstractImproved antenatal imaging has led to increased detection rates of fetal limb anomalies. While they are nonlethal, they could be the first indication of an underlying genetic disorder. In the event of termination, postmortem and genetic evaluation are rarely performed, missing the opportunity to diagnose genetic disorders. The aim of the present study was to examine the utility of fetal autopsy in antenatally detected limb anomalies and to determine the incidence of genetic disorders in the same cohort. This was a retrospective evaluation of 59 cases. Only fetuses terminated for limb anomalies, either in isolation or in association with other features, were included. Cases terminated for lethal skeletal dysplasia and arthrogryposis multiplex congenita were excluded. Cases where limb defects were diagnosed after termination were also not included. The antenatal ultrasound records were compared to postmortem findings to determine the concordance rates. Chromosomal studies along with fetal autopsy were performed in all cases. Mutation analysis was also carried out where possible. Complete concordance between antenatal and postnatal findings was observed in 61 % of the cases. In 23.7 % of the cases, additional major anomalies were observed, the commonest being orofacial clefts. A genetic association was present in 62.7 % of the cases, of which, 25.4 % had an abnormal karyotype. Bilateral limb involvement and presence of associated features were strong predictors of genetic syndromes.