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| Background |
Inborn Metabolic Disorders (IMD) are common genetic disorders increasingly being recognized to impose a high burden on the health care infrastructure It is also true that many of the IMD’s are treatable conditions if diagnosed and managed early in life. Indian Council of Medical Research (ICMR) recognized the well felt need of initiating a multicentre program in order to systematically collect incidence data for selected IMDs to measure the burden of the disease and help in early diagnosis and management.
The term newborn screening is used to describe various types of tests that are done during the first few days after birth. Screening separates those who might have the disorder from those who probably do not have the disorder. The Newborn screening programs have been implemented in all developed and few developing countries and the number of disorders being screened varies from country to country and even with in countries. High throughput techniques like Tandem Mass Spectrometry (TMS) can screen for multiple disorders simultaneously.
The decision to include any disease for screening depends on the feasibility, availability of resources , socioeconomic situation and treatment facilities. This is a pilot study and only 2 diseases of the more common metabolic Disorders have been identified including Congenital hypothyroidism (CH) and Congenital adrenal hyperplasia (CAH) which would be screened in a population of 1lakh newborns at 5 centers in the country. Delhi (North), Mumbai (West), Chennai (South) , Hyderabad (Central), Kolkata (East) with Central Coordinating Unit at ICMR, New Delhi. This pilot study would provide the data about the magnitude of burden of these diseases in the country as well as establish the feasibility of introducing neonatal screening as a public health program. The decision to include these two conditions CH and CAH was taken because these diseases are relatively commonly reported in the Indian population(based on data available for previous studies), their early diagnosis, treatment can to a large extent prevent severe disability in the affected child and the treatment is affordable in our socioeconomic scenario. |
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