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

Experts point out that a lot of work has to be done towards improving newborn health in India as nearly 5-15 per cent of newborns are sick due to metabolic diseases. A major group of these babies is left with irreversible complications of physical and mental impairment and some die, if affected by severe forms of these conditions.


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

Indian Scenario

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

Prevalence of Inborn Errors of Metabolism in Neonates

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

Current and future perspective of newborn screening: an Indian scenario

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