1 in every 1,000 newborns was observed .....   

Indian Scenario
There are limited published studies on the newborn population screening from India. Homocysteneimia, hyperglycinemia,
MSUD, PKU, hypothyroidism and G6PDdeficiency were found to be the common errors in one NBS pilot project in Karnataka [16]. Another pilot program from Hyderabad revealed a high prevalence of CH (1 in 1,700)followed by congenital 
adrenal hyperplasia, G6PD deficiencyand aminoacidopathies [17]. Though, a very high prevalence of IEM to the extent of 1 in every 1,000 newborns was observed in several single hospital based study[18, 19], but no study truly reflected the extent of the IEM

Inherited metabolic disorders are individually rare but collectively numerous, causing substantial morbidity and
mortality. These also result in psychosocial crises that challenge individual and familial modes of functioning
across the life cycle [20]. Prenatal diagnosis and newborn screening help to reduce the societal burden as well as the
morbidity due to IEM. However, the success of any screening programme requires the public participation. The
most important is to get the governments policy and financial support for expanded screening.
In that context, a panel discussion on the Challenges and management of on inborn errors of metabolism,
organized by the Department of Biochemistry, College of Medicine & JNM Hospital, The West Bengal University of Health Sciences on the 7th March 2013, the panellists
Dr. Robert Aquaron (France), Dr. Noah Weisleder (USA),Dr. Ashwin Dalal (CDFD, Hyderabad), Dr. Purnima
Prabhu (P. D. Hinduja Hospital, Mumbai), Dr. PraveenSharma and Dr. D.M. Vasudevan has brought out the following
suggestions, for consideration by authorities:
" Due to financial constraints, screening of all new born
babies in India may be the long term aim; however,
preliminary level screening with few low cost tests
laboratories in all medical colleges and district hospitals
can be established.
" Blood and/or urine from all new born babies are to be
screened in these laboratories, and abnormal samples
could be sent to tertiary centers for further analysis.
" About 10 tertiary laboratories in different regions of
India should be set up, where advanced techniques such
as High performance liquid chromatography (HPLC),
Gas liquid chromatography (GLC), tandem mass spectrometry
(TM), specific enzyme analysis, PCR based
molecular biology tests, etc. are made available.
" At present, the dietary formulas are imported from
abroad at a very high cost. Indian companies should be
encouraged to make special diet formulas for such
patients, so that treatment cost could be made
" Attempts should be made to raise funds from Indian
and foreign granting agencies to launch/support these
" Initiate awareness programmes throughout the country,
so that medical personnel as well as general public are
made aware of this grave public health problem, and
the importance of the screening of all new born babies.
Source.Ind J Clin Biochem (Oct-Dec 2013) 28(4):311313
DOI 10.1007/s12291-013-0371-7 Subir Kumar Das
Note.This information complied from the website mentioned above  
Newborn Screening for Congenital Hypothyroidism in India: Let’s Just Do It!   


The apparent incidence of CH, which was thought to be about 1:3,000 newborns when screening began, now appears to be closer to 1:2,000 newborns, with even higher incidences reported in iodine-deficient areas, which include parts of India. This means that in India, over 13,000 babies with CH are either not diagnosed or diagnosed late each year (assuming 26 million births annually).

The expression of genetic disease in India

Nearly 5-15 per cent of newborns are sick due to metabolic diseases.

Indian Scenario

Greatest Burden


Importance of screening in India,

Frequency of Genetic Disorders


Neonatal thyroid dysfunction-lessons from Indian experience

Burdened by rare diseases

Prevalence of Inborn Errors of Metabolism in Neonates

Current and future perspective of newborn screening: an Indian scenario

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