Indian Scenario   

 Our annual birth rateis 21.76/1000 population. Out of the approximately 25 million new births in India, there are an estimated 1.6 Million babies born with birth defects  including  about 620,000 with geneticdisorders.With no mandatory  newborn screening at national/governmen tlevels, the country wide burden of genetic disorder sespecially the congenital conditions is huge and still unknown28


 Note.This information complied from the website mentioned above  
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). 


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.

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

Greatest Burden


Frequency of Genetic Disorders


Neonatal thyroid dysfunction-lessons from Indian experience

Burdened by rare diseases

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