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No thorough database yet for newborns with genetic defects

Need a registry ahead of any prevention programme,say experts

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.

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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.

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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.

A high estimate of children born with birth defects is not unexpected as India has a high birth rate of 20.97 per 1,000 population,according to Census 2011. There are hardly any registries that give updated information on genetic disorders.

“Evidence indicates that India has the highest number of children with birth defects. The lack of public health support for treatment often means lifelong suffering. Many of the tools to prevent birth defects are inherent in the existing reproductive and child health programme. With some additions,a prevention programme could be initiated in order to address this invisible public health problem,” Kar said.

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WHO officials at the health unit of the South East Asia Regional Office in New Delhi admitted that there is no national level surveillance mechanism. Now a series of meetings have been held this year to come out with regional-level strategies on prevention.

The existing health information in India systems need to be improved to integrate information on foetal deaths (including stillbirths) and birth defects,WHO officials have said.

Globally,6 per cent of neonates are born with a birth defect of genetic or partially genetic origin. Each year,3.3 million babies die before the age of five and 3.2 million are disabled because of birth defects.

According to the global report of March of Dimes on Birth Defects,the prevalence of birth defects in South-East Asia ranges from 54.1 to 64.3 per 1,000 live births.

BIRTHS & DEATHS

20.97

Births per 1,000 population in India (Census 2011)

84.2 to 137.3

Per 10,000 births,estimated prevalence of birth defects. This is based on 0.9 million births in 10 years studied by Foetal Care Research Foundation. No comprehemsive registry exists.

6%

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Babies born with a birth defect of genetic or partially genetic origin,globally

3.3 million

Babies die before age 5 because of birth defects

3.2 million

Other babies are disabled

7.6 million

Under-5 deaths globally in 2010,down from 12 million in 1990. It represents a drop of 12,000 per day,according to statistics from the UN Millennium Development Goal (MDG) 4 programme,which is looking at a 2/3rds reduction

First published on: 28-09-2012 at 03:52:09 am
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