Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

AbstractInborn 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 Citrul linemia 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.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research