ArticleInternational journal of neonatal screening2023
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.
Article in International journal of neonatal screening, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Newborn screening for congenital adrenal hyperplasia: a 3 years study embedded in 25 years of regional experience in Italy.Endocrine · 2026Article
- Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.Indian journal of pediatrics · 2026Article
- Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.Orphanet journal of rare diseases · 2025Article
- India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges.International journal of neonatal screening · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Navigating the Complex Landscape of CYP21A2 Variants.Indian journal of pediatrics · 2024Article
- Comparison of long-read sequencing and MLPA combined with long-PCR sequencing ofFrontiers in genetics · 2024Article
- Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.Indian journal of endocrinology and metabolismReview
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone (17-OHP). The second-tier test for confirmation of diagnosis is carried out on recall venous blood sample from screen positives measuring 17-OHP, or other metabolites of steroid metabolism by liquid chromatography-tandem mass spectroscopy. However, as steroid metabolism is dynamic, it can affect these parameters even in the recall sample of a stressed neonate. Moreover, there is some time delay in recalling the neonate for repeat testing. Reflex genetic analysis of blood spot from the initial Guthrie cards of screen positive neonates, if used for confirmatory testing, can avoid this time delay as well as the effect of stress on steroid metabolism. In this study, we used Sanger sequencing and MLPA in a reflex manner for molecular genetic analysis to confirm
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Registered trials
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