Importance of screening in India,    

There is paucity of published studies in the normal newborn population screening from India. A pilot newborn screening project was carried out on 125 thousand newborns(5). Homocysteneimia, hyperglycinemia, MSUD, PKU, hypothyroidism and G6PD deficiency were found to be the common errors. Another pilot program Expanded Newborn Screening was started in 2000 at Hyderabad to screen amino acid disorders, CH, congenital adrenal hyperplasia (CAH), G6PD deficiency, biotinidase deficiency, galactosemia and cystic fibrosis. Testing a total of eighteen thousand three hundred babies, the results revealed a high prevalence of CH (1 in 1700). The next common disorder was congenital adrenal hyperplasia followed by G6PD deficiency. Aminoacidopathies as a group constituted the next most common disorder. Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The authors stressed the importance of screening in India, necessitating nation-wide large-scale screening(6). 


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Neonatal thyroid dysfunction-lessons from Indian experience   

Worldwide the prevalence of congenital hypothyroidism approximates to 1:3500-1:4000 live births. The exact incidence of congenital hypothyroidism in India is not known. A screening of 36,000 newborns in Chennai as part of a study conducted by Indian council for medical research has revealed that 1.6 in every thousand births had congenital hypothyroidism that results in stunted growth and low intelligence quotient. Newborn screening conducted in 18,300 neonates in Andhra Pradesh reported a prevalence of 1 in 1,700 live births. In another study from North India, revealed a prevalence of 1 in 3,400.


Note.This information complied from the website mentioned above  
The expression of genetic disease in India

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

Indian Scenario

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

Greatest Burden


Frequency of Genetic Disorders


Burdened by rare diseases

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