Literature DB >> 27821980

Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

R Kishore Kumar1, Hari Das2, Prakash Kini2.   

Abstract

BACKGROUND: Congenital Adrenal Hyperplasia (CAH) is a disorder-an ideal candidate to deserve newborn screening. CAH accounts for a significant mortality and morbidity in India, and its awareness among obstetricians should be treated as highly important to prevent the problem. PURPOSE OF THE STUDY: It is very important for a country like India as the incidence of CAH is reasonably high justifying screening program. However, there are simple logistics that need to be followed, and the treating physicians need to be aware of, if one has to reduce the number of false positives and recalls.
METHODS: This article takes one through the steps involved in the analysis, interpretation, and reasons for false positives, why the false positives, so that unnecessary calls to parents for repeat sampling are minimized along with the emphasis and the need for the routine screening for CAH. RESULTS/
CONCLUSION: The results of samples can vary depending on the gestational age of the baby, weight of the baby, sampling time, and the knowledge of these data to the treating Obstetrician and Pediatrician is of paramount importance in preventing repeat samples and frustration for the family and the people involved.

Entities:  

Keywords:  17-Hydroxy-progesterone (17-OHP); Congenital adrenal hyperplasia (CAH); Newborn screening

Year:  2015        PMID: 27821980      PMCID: PMC5080217          DOI: 10.1007/s13224-015-0712-y

Source DB:  PubMed          Journal:  J Obstet Gynaecol India        ISSN: 0975-6434


  21 in total

1.  American Academy of Pediatrics, Committee on Genetics: Issues in newborn screening.

Authors: 
Journal:  Pediatrics       Date:  1992-02       Impact factor: 7.124

Review 2.  Ethical issues in newborn screening and the impact of new technologies.

Authors:  Bridget Wilcken
Journal:  Eur J Pediatr       Date:  2003-11-14       Impact factor: 3.183

3.  Newborn screening in India: current perspectives.

Authors:  Seema Kapoor; Madhulika Kabra
Journal:  Indian Pediatr       Date:  2010-03       Impact factor: 1.411

4.  Newborn screening in the Asia Pacific region.

Authors:  Carmencita D Padilla; Bradford L Therrell
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

5.  The case for newborn screening for congenital adrenal hyperplasia in Australia.

Authors:  Garry L Warne; Katrina L Armstrong; Thomas A Faunce; Bridget M Wilcken; Avihu Boneh; Elizabeth Geelhoed; Maria E Craig
Journal:  Med J Aust       Date:  2010-01-18       Impact factor: 7.738

Review 6.  Newborn screening: need of the hour in India.

Authors:  Ishwar C Verma; Sunita Bijarnia-Mahay; Geetu Jhingan; Jyotsna Verma
Journal:  Indian J Pediatr       Date:  2014-12-09       Impact factor: 1.967

Review 7.  Neonatal screening for congenital adrenal hyperplasia in Japan.

Authors:  Toshihiro Tajima; Kaori Fujikura; Masaru Fukushi; Tomoyuki Hotsubo; Yu Mitsuhashi
Journal:  Pediatr Endocrinol Rev       Date:  2012-10

8.  Newborn screening in India.

Authors:  A Radha Rama Devi; S M Naushad
Journal:  Indian J Pediatr       Date:  2004-02       Impact factor: 1.967

9.  Congenital adrenal hyperplasia: experience at intersex clinic, AIIMS.

Authors:  P S Menon; A Virmani; A K Sethi; I C Verma; M Rohatgi; D K Gupta; A K Gupta
Journal:  Indian J Pediatr       Date:  1992 Jul-Aug       Impact factor: 1.967

10.  ACOG Committee Opinion No. 393, December 2007. Newborn screening.

Authors: 
Journal:  Obstet Gynecol       Date:  2007-12       Impact factor: 7.661

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  5 in total

1.  Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.

Authors:  Jyotsna Verma; Papai Roy; Divya C Thomas; Geetu Jhingan; Azad Singh; Sunita Bijarnia-Mahay; Ishwar C Verma
Journal:  J Pediatr Intensive Care       Date:  2019-10-14

Review 2.  Adrenal insufficiency.

Authors:  Stefanie Hahner; Richard J Ross; Wiebke Arlt; Irina Bancos; Stephanie Burger-Stritt; David J Torpy; Eystein S Husebye; Marcus Quinkler
Journal:  Nat Rev Dis Primers       Date:  2021-03-11       Impact factor: 52.329

3.  Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia.

Authors: 
Journal:  Indian J Pediatr       Date:  2018-03-17       Impact factor: 1.967

4.  The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation.

Authors:  Subbiah Sridhar; Ramajayam Govindhan; Balasankar Soundian; Maheshkumar Poomarimuthu; Karuppasamy Nallan; Santhanakrishnan Ramesh Kumar; Subbiah Eagappan; Vasanthiy Natarajan; Sangumani Jayaraman
Journal:  Indian J Endocrinol Metab       Date:  2022-02-17

5.  Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme.

Authors:  Fei Lai; Shubha Srinivasan; Veronica Wiley
Journal:  Int J Neonatal Screen       Date:  2020-08-12
  5 in total

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