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  
Frequency of Genetic Disorders   

 A recent study carried out in three centres(Mumbai, Delhi and Baroda)
on 94,610 newborns by using a uniforma showed a malformation
frequency of 2.03%, the commonest malformtions are neural tube
defects and musculo-skeletal disorders. The frequency of Down
syndrome among 94,610 was 0.87 per 1000 or 1 per 1150 Screening of 112,269 newbornns for aminoacid disorders
showed four disorders to the commonest-tyrosinemia, maple syrup
urine disease and phenylketonuria1,2. Epindemiologists and geneticists
claim that genetics has an increasing role to paly in public health
policies and programs in the future. Within this perspective, genetic
testing and screening are instrumental in avoiding the birth of children
with serious, costly or untreatable disorders 3
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


Importance of screening in India,


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: Let’s Just Do It!

Current and future perspective of newborn screening: an Indian scenario

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