Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

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.

Automated summary

This case highlights the importance of genetic counseling for couples who have lost a child to a genetic disorder, and the significance of post-mortem genetic analysis for confirming diagnoses in future pregnancies. It also underscores the necessity of prenatal testing and DNA banking in fatal genetic disorders to enable effective genetic counseling for future pregnancies.