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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2021; 08(02): 157-162
DOI: 10.1007/s40556-021-00302-w
Case Reports

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

Shruti Bajaj 
1   Suchak Hospital, Malad, Mumbai, India
2   Sir HN Reliance Foundation Hospital and Research Centre, Mumbai, India
,
Uday Joglekar
3   Abhyuday Maternity Home, Virar, India
,
Anil Jalan 
4   NIRMAN-Navi Mumbai Institute of Research In Mental and Neurological Handicap, Mumbai, India
,
Johannes Häberle 
5   Division of Metabolism, University Children’s Hospital Zurich, Zürich, Switzerland
,
Veronique Rüfenacht
5   Division of Metabolism, University Children’s Hospital Zurich, Zürich, Switzerland
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Abstract

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


Publikationsverlauf

Eingereicht: 16. September 2020

Angenommen: 18. Mai 2021

Artikel online veröffentlicht:
05. Mai 2023

© 2021. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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