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Indian J Hum Genet. 2013 Apr;19(2):125-9. doi: 10.4103/0971-6866.116101.

Birth defects in India: Hidden truth, need for urgent attention.

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  • 1Department of Community Medicine, SGT Medical College Hospital and Research Institute, Budhera, Haryana, India.


Birth defects (structural, functional and metabolic disorder present from birth, may be diagnosed later) rising up as an important cause of infant mortality even in developing countries where infant mortality has been reduced to much extent. Seventy percent of birth defects are preventable through the application of various cost effective community genetic services. Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor maternal nutritional status, high consanguineous marriages rate, and high carrier rate for hemoglobinopathies. India being the second most populous country with a large number infant born annually with birth defects should focus its attention on strategies for control of birth defects. Many population based strategies such as iodization, double fortification of salt, flour fortification with multivitamins, folic acid supplementation, periconceptional care, carrier screening and prenatal screening are some of proven strategies for control of birth defects. Strategies such as iodization of salt in spite of being initiated for a long time in the past do have a very little impact on its consumption (only 50% were using iodized salt). Community genetic services for control of birth defects can be easily flourished and integrated with primary health care in India because of its well established infrastructure and personnel in the field of maternal and child health care. As there is wide variation for infant mortality rate (IMR) in different states in India, so there is a need of deferential approach to implement community genetic services in states those had already achieved national goal of IMR. On the other hand, states those have not achieved the national goal on IMR priority should be given to management of other causes of infant mortality.


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