Inborn errors of metabolism are an important cause of non-communicable under-five
childhood mortality. Lack of confirmatory ‘genomic’ results in the deceased index
case due to unavailability of post-mortem biological samples, can pose challenges
in reproductive counseling of the parents in future pregnancies. Our case describes
a couple seeking preconception genetic counseling after they lost their previous child
to biochemically diagnosed Citrullinemia type-1. We confirmed the genomic diagnosis
of Citrullinemia type-1 through the post-mortem genetic analysis of the DNA retrieved
from the preserved blood spots, 12-months later. Prenatal testing in the next pregnancy
revealed the fetus to be a carrier for Citrullinemia type-1. This case report intends
to raise the obstetricians’ and neonatologists’ awareness regarding DNA banking in
fatal genetic disorders and the mandatory confirmatory genetic diagnosis for effective
prenatal genetic counseling.
Keywords
Citrullinemia - Prenatal diagnosis - Genetic counseling - DNA banking
