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  
 
Newborn screening: Need of the hour   2021-06-02

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.


https://iap-kpj.org/newborn-screening-need-of-the-hour/
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