Early detection can combat birth defects

Early detection can combat birth defects

An estimated 49,000 new borns died in WHO’s South-East Asia Region in 2013 due to birth defects which also caused an unknown number of spontaneous abortions and still births. Infants who survive with birth defects suffer long-term disability which impairs them, their families and societies due to the social and economic consequences.

Birth defects are common, costly and critical health challenges which need to be addressed as a priority. Nearly 70 per cent birth defects can be prevented through multi-sectoral approach with evidence-based interventions before and soon after conception.
 
The most common birth defects are heart defects, neural tube defects and Down’s syndrome, with 94 per cent of the severe ones occurring in middle- and low-resource settings. The socio-economic conditions where mothers are more susceptible to malnutrition, iodine deficiency, folate insufficiency, obesity or diabetes play a major role.

Infections such as rubella and environmental factors like exposure to pesticides, medications, alcohol, tobacco etc. are important causative factors. Advanced maternal age causes Down’s syndrome in the baby. In addition, cultural practices such as marriages among first cousins increases the risk of rare and serious birth defects.

Addressing the problem needs a strong political will and to match the wide range of causes, a multidisciplinary, multisectoral and multiple programme approach with services involving health, nutrition, food industry, social welfare sectors and civil society.

Services to prevent and care for children with birth defects should be integrated in the existing healthcare services, in particular the Reproductive-Maternal-Newborn-Child-Adolescent Health programmes, as well as in the existing programmes for nutrition, immunisation, STI/HIV, prevention of tobacco and alcohol and non-communicable disease.

Consumption of folic acid before and during early pregnancy significantly decreases the risk of neural tube defect. Fortification of food with folic acid and iron is a cost effective strategy in several countries. Consumption of adequate amount of iron can eliminate deficiency which results in anaemia and reduced mental and physical productivity.


Mental impairment due to iodine deficiency can be prevented at a low cost through iodisation of salt. The birth defects of environmental origin can be addressed by prevention approaches and legislation controlling management of toxic chemicals. Birth defects like thalassemia and sickle cell diseases need a combination approach of carrier screening, counseling and prenatal diagnosis.

Strengthening healthcare

The existing primary health services need to be strengthened to make treatment and management of birth defects available. Though this largely depends on the level of health care available, significant improvements can be made even with limited resources. Affordable medications, surgical treatments and community-based rehabilitation can help improve the health and quality of life of children born with birth defects, and their families. Early detection of birth defects is important to start timely treatment to achieve reasonable functionality.

Recognising the need to prevent and control birth defects, countries of the South-East Asia region are making efforts  to develop and strengthen registration and surveillance system, build capacity and expertise for prevention and management of birth defects.

Despite undermining health and well-being of people in a big way, birth defects have so far remained under-recognised. Addressing birth defects is important to achieve Millennium Development Goal 4 of reducing child mortality, to which all countries are committed. Significant achievement has been made in reducing under-5 deaths, but the progress has not been the same with newborn mortality rate.

The under-five mortality rate in the region has declined from 118 deaths per 1,000 live births in 1990 to 47 deaths per 1,000 live births in 2013. But the newborn mortality rate declined from 47 per 1,000 live birth to only 26 per 1,000 live birth during the same period with deaths caused by birth defects remaining static.

Child deaths and long term disabilities caused by birth defects are preventable to a large extent. Inadequate attention to this public health issue is unacceptable. It is time that the national governments, health programmes as well as families and individuals pledge to act against birth defects.

(The writer is Regional Director, WHO, South-East Asia)

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