Data
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

Recommendations
 
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
affordable.
" Attempts should be made to raise funds from Indian
and foreign granting agencies to launch/support these
recommendations.
" 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  
 
Current and future perspective of newborn screening: an Indian scenario   

Current and future perspective of newborn screening: an Indian scenario
NBS is aimed at timely identification of disorders that affect neonates so that irreversible damage can be prevented. Challenges faced by the NBS program in India can be resolved by starting the program in a planned manner, and focus should be on technical, medical, and logistic support. Nationwide NBS program should be started for CH, as its prevalence is quite high in India. Once the program picks its pace, experience gained by different laboratories can be applied to the development of policies for sustainability of the NBS program. Awareness is the most important component of NBS and must be started in the very first step before development of infrastructure. After successful implementation of the NBS program, focus should be on the extension of screening panel according to the prevalence of various disorders, establishment of new laboratories, management of sick neonates, and development of new therapies.
The NBS program at Chandigarh was started in 2007 with the objective to know the exact prevalence of common metabolic disorders in this region and to develop policies and protocols to initiate NBS in a government setup. After reviewing the literature, a panel of three disorders, namely, CH, CAH, and G6PD deficiency, was prepared. Universal heel prick method was adopted for sample collection between 24 and 48 h of birth after pre-test counseling of the parents on the necessity and benefits of screening. The total number of newborns screened until December 2014 is 25,395 out of 28,272 born at GMCH-32. Coverage of neonates under the NBS program is 89%. The remaining 10% who did not undergo screening include still born (4%), refusal (0.1%), LAMA (left against medical advice) (0.1%), early discharge (2.3%), and NICU admission (3.2%). Incidence of disorders screened in our study is
  • Congenital hypothyroidism – 1:1400
  • Congenital adrenal hyperplasia – 1:6334
  • G6PD deficiency – 1:80 with a higher prevalence in males than in females.
The NBS program at Genetic Centre, GMCH-32, has been evolving over a period of years, and after refinements and re-refinements in sampling collection, sample analysis, and follow-up, we have successfully reduced the false-positive rate. NBS deals with rare disorders, and benefits cannot be easily shown without very large studies; therefore, we are extending the NBS program to other government hospitals of Union Territory, Chandigarh. Along with this, we are planning to add more disorders in the screening panel, namely, galactosemia, phenylketonuria, and biotinidase deficiency.
 
The expression of genetic disease in India

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

Indian Scenario

Greatest Burden

INDIAN CONTEXT

Importance of screening in India,

Frequency of Genetic Disorders

Staggering

Neonatal thyroid dysfunction-lessons from Indian experience

Burdened by rare diseases

Prevalence of Inborn Errors of Metabolism in Neonates

Newborn Screening for Congenital Hypothyroidism in India: Lets Just Do It!

Newborn screening: Need of the hour

Universal Implementation of Newborn Screening in India

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