Expanded newborn screening: Guiding principles, concerns and relevance

Since its introduction in 1960s, universal newborn screening (NBS) using the heel-prick dried blood spot samples has become an integral part of public health system in developed countries expanded to pre-symptomatic detection of specific inherited metabolic, endocrine and hematologic disorders. In o...

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Main Authors: Seema Pavaman Sindgikar, Rathika Damodar Shenoy
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Muller Journal of Medical Sciences and Research
Subjects:
Online Access:http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=59;epage=63;aulast=Sindgikar
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author Seema Pavaman Sindgikar
Rathika Damodar Shenoy
author_facet Seema Pavaman Sindgikar
Rathika Damodar Shenoy
author_sort Seema Pavaman Sindgikar
collection DOAJ
description Since its introduction in 1960s, universal newborn screening (NBS) using the heel-prick dried blood spot samples has become an integral part of public health system in developed countries expanded to pre-symptomatic detection of specific inherited metabolic, endocrine and hematologic disorders. In our country, NBS may become relevant with epidemiological shift and increasing access to technology. Current recommendations include a phased introduction of screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose 6-phosphate dehydrogenase deficiency. In this review, the guiding principles of NBS, some of the individual disorders, the concerns and relevance to our country are discussed. Establishing a pre- and post-screening care and education are of utmost priority before NBS is adapted into health care system.
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spelling doaj.art-da92fbef6cef4967a0ba1bc1e4b63e122022-12-22T00:38:37ZengWolters Kluwer Medknow PublicationsMuller Journal of Medical Sciences and Research0975-97272014-01-0151596310.4103/0975-9727.128951Expanded newborn screening: Guiding principles, concerns and relevanceSeema Pavaman SindgikarRathika Damodar ShenoySince its introduction in 1960s, universal newborn screening (NBS) using the heel-prick dried blood spot samples has become an integral part of public health system in developed countries expanded to pre-symptomatic detection of specific inherited metabolic, endocrine and hematologic disorders. In our country, NBS may become relevant with epidemiological shift and increasing access to technology. Current recommendations include a phased introduction of screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose 6-phosphate dehydrogenase deficiency. In this review, the guiding principles of NBS, some of the individual disorders, the concerns and relevance to our country are discussed. Establishing a pre- and post-screening care and education are of utmost priority before NBS is adapted into health care system.http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=59;epage=63;aulast=SindgikarCongenital hypothyroidismdried blood spotGuthrie cardphenylketonuriatandem mass spectrometry
spellingShingle Seema Pavaman Sindgikar
Rathika Damodar Shenoy
Expanded newborn screening: Guiding principles, concerns and relevance
Muller Journal of Medical Sciences and Research
Congenital hypothyroidism
dried blood spot
Guthrie card
phenylketonuria
tandem mass spectrometry
title Expanded newborn screening: Guiding principles, concerns and relevance
title_full Expanded newborn screening: Guiding principles, concerns and relevance
title_fullStr Expanded newborn screening: Guiding principles, concerns and relevance
title_full_unstemmed Expanded newborn screening: Guiding principles, concerns and relevance
title_short Expanded newborn screening: Guiding principles, concerns and relevance
title_sort expanded newborn screening guiding principles concerns and relevance
topic Congenital hypothyroidism
dried blood spot
Guthrie card
phenylketonuria
tandem mass spectrometry
url http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=59;epage=63;aulast=Sindgikar
work_keys_str_mv AT seemapavamansindgikar expandednewbornscreeningguidingprinciplesconcernsandrelevance
AT rathikadamodarshenoy expandednewbornscreeningguidingprinciplesconcernsandrelevance