No thorough database yet for newborns with genetic defects
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Sunita Shanichara, 28, travelled from Chhattisgarh to her family home in Gondia district of Maharashtra for the birth of her child. But what should have been joy came instead as a shock.
Born on September 10, the boy was severely deformed. It drew a number of onlookers at the primary health centre and even doctors took time to find out what he was suffering from.
Dr Niranjan Agarwal, medical officer at the Bhanpur PHC, said the baby suffered from a rare genetic disorder, called harlequin ichthyosis. He did not survive.
A harlequin baby is born with a very hard, thick skin covering most of his or her body. The skin abnormality affects the shape of the eyelids, nose, mouth and ears and limits the baby's movement. The skin forms large, diamond-shaped plates that are separated by deep cracks called fissures.
This restricted movement leads to breathing difficulties and eventually respiratory failure.
There is no nationwide government database for the incidence of such genetic defects at birth. Dr Anita Kar, director of Interdisciplinary School of Health Sciences, University of Pune, who has been actively working in the field of single-gene disorders, has written to the National Rural Health Mission to institute a mechanism that would record such birth defects.
The Foetal Care Research Foundation is one institution that did set up the Birth Defect Registry of India in 2001. At present, the BDRI covers more than 650 hospitals across 27 states. Based on data collected for 0.9 million births over the past 10 years, the prevalence of birth defects has been found to range from 84.2 to 137.3 per 10,000 births.
To initiate any preventive programme, the first step is to generate epidemiological data regarding birth defects, says Kar, who has worked with an expert group that has developed strategic guidelines for the prevention and control of birth defects in South East Asian region countries.
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