Basic new born and antenatal screening for aspirational districts: unique methods of management and treatment of inherited disorders

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dc.contributor.authorUppal, Komalen_US
dc.contributor.authorJoshi, Chandrikaen_US
dc.contributor.authorPolipalli, Sunil Kumaren_US
dc.contributor.authorKumar, Someshen_US
dc.contributor.authorJindal, Ankuren_US
dc.contributor.authorGupta, Sangeetaen_US
dc.contributor.authorVerma, Amaren_US
dc.contributor.authorKapoor, Seemaen_US
dc.date.accessioned2024-09-24T07:18:06Z
dc.date.available2024-09-24T07:18:06Z
dc.date.issued2024-02
dc.description.abstractBackground: 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.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Gynecology and Obstetrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.affiliationsDepartment ofPediatrics, RIMS, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College, Delhi, Indiaen_US
dc.identifier.citationUppal 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): 167-171en_US
dc.identifier.issn2349-3283
dc.identifier.issn2349-3291
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/228678
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber2en_US
dc.relation.volume11en_US
dc.source.urihttps://doi.org/10.18203/2349-3291.ijcp20240092en_US
dc.subjectAntenatal screeningen_US
dc.subjectNew born screeningen_US
dc.subjectUMMIDen_US
dc.titleBasic new born and antenatal screening for aspirational districts: unique methods of management and treatment of inherited disordersen_US
dc.typeJournal Articleen_US
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