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Common Genetic Birth Defects

written by: nain•edited by: Paul Arnold•updated: 3/2/2009

It is a sad fact of life that every year millions of children are born with birth defects that are caused solely or partially by genetic defects. This article looks at where they occur in the world and what can be done about them.

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    In 2006 The March of Dimes Foundation (a voluntary US health agency) published a comprehensive survey of the number and location of genetic birth defects around the world. The figure was calculated at eight million worldwide, accounting for six percent of births and the vast majority were in poorer countries. Although there are many defects caused by environmental factors, such as exposure to radiation or smoke, these were not studied in this report.

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    Genetic birth defects

    The research comes from records taken in 2001 and pooled from 193 countries.

    While there are thousands of known genetic birth defects the study found that five types of defect make up over a quarter of all cases each year.

    The five most common are;

    Congenital heart defects - 1,040, 865 births

    Neural tube defects, such as spina bifida - 323, 904 births

    Haemoglobin disorders, such as thalessemia - 307, 897 births

    Down's Syndrome - 217, 293 births; you can read more about the cause of Down's syndrome by clicking here

    G6PD enzyme deficiency - 177, 032 births

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    Poor regions the worst hit

    Statistically it becomes clear that poorer countries are the worst hit, both in terms of genetic birth defects and resultant deaths. More than 90 percent of all genetic birth defects occur in areas of lesser wealth, and a similar proportion of infant deaths are related to these genetic defects.

    In the worst affected areas, figures show that over 80 babies per thousand are born with genetic defects, more than double the rate seen in more affluent areas of the world.

    It is clear from the research that the effects of poverty exert an influence over the frequency of genetic defects at birth, with poor maternal health more common in these areas too. Other contributory reasons include more older women having children and the incidence of marriage among families, which is more common in the developing world. All of these add to the chances of mutated genes resulting in genetic defects.

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    Better health and diet needed

    The 2006 report also makes recommendations for immediate steps to be taken, which include the introduction of folic acid supplements to prevent neural tube defects and rubella immunisation to prevent congenital rubella syndrome.

    Mid-to-long-term there are many ways of reducing the number of genetic birth defects. These include better education for communities and health workers to be able to spot, at an early stage, poor health and nutrition in pregnant women, and couples who are at greater risk of having children with genetic defects. The media can play a role with public health information films to encourage communities and health care professionals to learn more about how genetic birth defects can be avoided. And of course governments need do put in place more effective health services and infection control programs.

    These measures can go along way to preventing defects and improving child health and survival.

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    1) Statistics of Birth Defects:

    2) Preventive Measures: