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  
Burdened by rare diseases   

According to the World Health Organisation (WHO) there are over 5,000 diseases classified as rarecaused due to genetic anomalies. Doctors say that out of these 5,000 rare diseases, more than 500 are metabolic, out of which 50 are currently accepted as screenable disorders across the world. In India, as many as 25,000 babies born with rare metabolic disorders every year. The numbers might not be high, but when it comes to the economic, social and psychological burden on the families of such children and the nation, these diseases need the immediate attention of the government because they tend to stay with the patient lifelong


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


Importance of screening in India,


Neonatal thyroid dysfunction-lessons from Indian experience

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