Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
Tóm tắt
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.
Tài liệu tham khảo
Ganesh R, Abhinesh R, Janakiraman L. Clinical spectrum of inherited disorders of metabolism. Indian J Pediatr. 2019;86:892–6.
Bijarnia-Mahay HJ, Jalan A, Puri RD, Kohli S, Kudalkar K, et al. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet J Rare Dis. 2018;13:174–86.
Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, et al. Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat. 2008;29:1222–7.
Diez-Fernandez C, Rüfenacht V, Häberle J. Mutations in the human Argininosuccinate Synthetase (ASS1) gene, impact on patients, common changes, and structural considerations. Hum Mutat. 2017;38:471–84.
Quinonez SC, Thoene JG. Citrullinemia Type I. 2004 Jul 7 [Updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1458. Accessed 11 Sept 2020
Khneisser I, Adib S, Assaad S, Megarbane A, Karam P. Cost benefit analysis: newborn screening for inborn errors of metabolism in Lebanon. J Med Screen. 2015;22:182–6.
Committee on genetics. ACOG technology assessment in obstetrics and gynecology no. 14: modern genetics in obstetrics and gynecology. Obstet Gynecol. 2008;132:e143–68.
Saudubray JM, Garcia-Cazorla A. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci. 2018;20:301–25.
Morrison PJ, Spence RAJ. Genetics for Surgeons. London: Remedica; 2005. Practical Approaches to Genetic Testing. https://www.ncbi.nlm.nih.gov/books/NBK7524/. Accessed 01 Apr 2021
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
Muranjan M, Agarwal S, Lahiri K, Bashyam M. Novel biochemical abnormalities and genotype in Farber disease. Indian Pediatr. 2012;49:320–2.
Kabra M, Arora S, Maria A, Aggarwal R. Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy. Indian Pediatr. 2003;40:415–8.
Higuchi R, von Beroldingen CH, Sensabaugh GF, Erlich HA. DNA typing from single hair. Nature. 1988;331:543–6.
Kapoor S, Thelma BK. Status of newborn screening and inborn errors of metabolism in India. Indian J Pediatr. 2018;85:1110–7.
Boemer F, Fasquelle C, d’Otreppe S, Josse C, Dideberg V, Segers K, et al. A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. Sci Rep. 2017;7:17641.
Choi EH, Lee SK, Ihm C, Sohn YH. Rapid DNA extraction from dried blood spots on filter paper: potential applications in biobanking. Osong Public Health Res Perspect. 2014;5:351–7.
Malsagova K, Kopylov A, Stepanov A, Butkova T, Izotov A, Kaysheva A. Dried blood spot in laboratory: directions and prospects. Diagnostics (Basel). 2020;10:248.