Basic new born and antenatal screening for aspirational districts: unique methods of management and treatment of inherited disorders
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Date
2024-02
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Background: Early screening, diagnosis and management program can contribute in reducing the burden of genetic disorders which can lead to early neonatal death or long-term disability in the vulnerable areas. UMMID (Unique Methods of Management and treatment of Inherited Disorders) and NIDAN (National Inherited Diseases Administration), aimed at developing a community level program for need assessment and to evaluate the feasibility of basic screening for some genetic/endocrine disorders in high-risk population.Methods: UMMID was carried out at the aspirational district Ranchi, Jharkhand for 3 years (2019-2022) to perform newborn screening (NBS) in <7 days old newborn babies for 5 metabolic disorders and to screen antenatal mothers for prevention of thalassemia and other hemoglobinopathies.Results: G6PD deficiency being more prevalent in Ranchi district out of five metabolic disorders screened. 13.6% of screen positive cases were confirmed positive for hemoglobinopathies. c.20 A>T is the most common mutation found among carriers.Conclusions: This initiative underscores the need of such screening programs in aspirational districts to manage and prevent these disorders effectively.
Description
Keywords
Antenatal screening, New born screening, UMMID
Citation
Uppal Komal, Joshi Chandrika, Polipalli Sunil Kumar, Kumar Somesh, Jindal Ankur, Gupta Sangeeta, Verma Amar, Kapoor Seema . Basic new born and antenatal screening for aspirational districts: unique methods of management and treatment of inherited disorders . International Journal of Contemporary Pediatrics. 2024 Feb; 11(2): 167-171