A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency

Introduction: Newborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established. Aim and Obje...

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Main Authors: Suprava Patel, Phalguni Padhi, Ritu Priya, Tripty Naik, Rachita Nanda, Eli Mohapatra
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Community and Family Medicine
Subjects:
Online Access:http://www.ijcfm.org/article.asp?issn=2395-2113;year=2020;volume=6;issue=2;spage=132;epage=136;aulast=Patel
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author Suprava Patel
Phalguni Padhi
Ritu Priya
Tripty Naik
Rachita Nanda
Eli Mohapatra
author_facet Suprava Patel
Phalguni Padhi
Ritu Priya
Tripty Naik
Rachita Nanda
Eli Mohapatra
author_sort Suprava Patel
collection DOAJ
description Introduction: Newborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established. Aim and Objective: The aim and objective of the study was to assess the burden of Congenital Hypothyroidism (CH) and Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency in this area by NBS tests and to assess the impact of awareness sessions on the response rate of parents for NBS. Material and Methods: The screening was conducted in 474 babies of age 48 h up to 8 weeks. The dried blood spots collected were subjected to the following analytical protocol. Thyroid-stimulating hormone (TSH) level and G6PD enzyme activity were analyzed by immunofluorescence method-based neonatal kits. All babies with a positive screening test for G6PD deficiency and CH were asked for venous confirmatory testing after 7 days. Results: The efficiency of the program for all live birth babies delivered in the institute was 92% (n = 410/445). It was 82% in the first phase of the study period and 98.5% in the second phase. Repeated training of nursing professional reduced the sampling errors from 14.7% in the first phase to 6.1% in the second phase. A total of 11 samples reflected high TSH values, of which one baby confirmed for CH. Of the 24 babies who screened positive for G6PD, four were confirmed for the same. The prevalence for CH and G6PD deficiency was, respectively, 1 in 462 (2/1000) and 4 in 462 (8.7/1000). Conclusion: Development of expansion of NBS program in the state should be made mandatory for all newborns. The recommendations include awareness among parents, during antenatal and postnatal period and also to health professionals and provision for laboratory facilities for NBS testing at low cost.
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spelling doaj.art-dbd2cd9a01cd415986bd802e096aed7a2023-03-21T08:41:43ZengWolters Kluwer Medknow PublicationsIndian Journal of Community and Family Medicine2395-21132020-01-016213213610.4103/IJCFM.IJCFM_16_20A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiencySuprava PatelPhalguni PadhiRitu PriyaTripty NaikRachita NandaEli MohapatraIntroduction: Newborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established. Aim and Objective: The aim and objective of the study was to assess the burden of Congenital Hypothyroidism (CH) and Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency in this area by NBS tests and to assess the impact of awareness sessions on the response rate of parents for NBS. Material and Methods: The screening was conducted in 474 babies of age 48 h up to 8 weeks. The dried blood spots collected were subjected to the following analytical protocol. Thyroid-stimulating hormone (TSH) level and G6PD enzyme activity were analyzed by immunofluorescence method-based neonatal kits. All babies with a positive screening test for G6PD deficiency and CH were asked for venous confirmatory testing after 7 days. Results: The efficiency of the program for all live birth babies delivered in the institute was 92% (n = 410/445). It was 82% in the first phase of the study period and 98.5% in the second phase. Repeated training of nursing professional reduced the sampling errors from 14.7% in the first phase to 6.1% in the second phase. A total of 11 samples reflected high TSH values, of which one baby confirmed for CH. Of the 24 babies who screened positive for G6PD, four were confirmed for the same. The prevalence for CH and G6PD deficiency was, respectively, 1 in 462 (2/1000) and 4 in 462 (8.7/1000). Conclusion: Development of expansion of NBS program in the state should be made mandatory for all newborns. The recommendations include awareness among parents, during antenatal and postnatal period and also to health professionals and provision for laboratory facilities for NBS testing at low cost.http://www.ijcfm.org/article.asp?issn=2395-2113;year=2020;volume=6;issue=2;spage=132;epage=136;aulast=Patelcongenital hypothyroidismefficiencyglucose 6-phosphate dehydrogenaseprevalencerecall responsesampling errors
spellingShingle Suprava Patel
Phalguni Padhi
Ritu Priya
Tripty Naik
Rachita Nanda
Eli Mohapatra
A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
Indian Journal of Community and Family Medicine
congenital hypothyroidism
efficiency
glucose 6-phosphate dehydrogenase
prevalence
recall response
sampling errors
title A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
title_full A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
title_fullStr A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
title_full_unstemmed A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
title_short A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
title_sort cross sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6 phosphate dehydrogenase deficiency
topic congenital hypothyroidism
efficiency
glucose 6-phosphate dehydrogenase
prevalence
recall response
sampling errors
url http://www.ijcfm.org/article.asp?issn=2395-2113;year=2020;volume=6;issue=2;spage=132;epage=136;aulast=Patel
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