Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia

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dc.contributor.authorVats, Pallavien_US
dc.contributor.authorDabas, Aashimaen_US
dc.contributor.authorJain, Vandanaen_US
dc.contributor.authorSeth, Anjuen_US
dc.contributor.authorYadav, Sangeetaen_US
dc.contributor.authorKabra, Madhulikaen_US
dc.contributor.authorGupta, Neerjaen_US
dc.contributor.authorSingh, Preetien_US
dc.contributor.authorSharma, Rajnien_US
dc.contributor.authorKumar, Ravindraen_US
dc.contributor.authorPolipalli, Sunil Ken_US
dc.contributor.authorBatra, Prernaen_US
dc.contributor.authorThelma, BKen_US
dc.contributor.authorKapoor, Seemaen_US
dc.date.accessioned2020-04-23T07:45:05Z
dc.date.available2020-04-23T07:45:05Z
dc.date.issued2020-01
dc.description.abstractCongenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguousgenitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to amissed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening forCAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestationalage is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassayfollowed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routinemolecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility inprenatal diagnosis and genetic counseling for future pregnancy.en_US
dc.identifier.affiliationsDepartment of Pediatrics; 1Maulana Azad Medical College and Lok Nayak Hospitalen_US
dc.identifier.affiliationsAll India Institute of Medical Sciencesen_US
dc.identifier.affiliationsLady Hardinge Medical College and Kalawati Saran Children’s Hospitalen_US
dc.identifier.affiliationsHindu Rao Hospitalen_US
dc.identifier.affiliationsUniversity College of MedicalSciencesen_US
dc.identifier.affiliationsDepartment of Genetics, University of Delhi; New Delhi, Indiaen_US
dc.identifier.citationVats Pallavi, Dabas Aashima, Jain Vandana, Seth Anju, Yadav Sangeeta, Kabra Madhulika, Gupta Neerja, Singh Preeti, Sharma Rajni, Kumar Ravindra, Polipalli Sunil K, Batra Prerna, Thelma BK, Kapoor Seema. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. Indian Pediatrics. 2020 Jan; 57(1): 49-55en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/199519
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber1en_US
dc.relation.volume57en_US
dc.source.urihttps://www.indianpediatrics.net/jan2020/49.pdfen_US
dc.subject17OHPen_US
dc.subjectCortisolen_US
dc.subjectFluoroimmunoassayen_US
dc.subjectTandem mass spectrometryen_US
dc.titleNewborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasiaen_US
dc.typeJournal Articleen_US
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