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Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8.
A birth defect happens while a fetus is developing in the womb. Congenital abnormalities refer to features or conditions that a baby is born with, as opposed to conditions that develop later in life. About one in 33 babies in the U.S is born with a birth defect.
A birth defect may cause physical or mental disabilities. It can affect almost any part of the body and can range from mild to severe. Some birth defects can be corrected by surgery or other medical treatments. These children can lead healthy lives. But some birth defects are very severe and can even cause death. Some birth defects such as a clubfoot or cleft lip are relatively noticeable, but others such as heart defects may require imaging tests like an ultrasound. Not all birth defects can be detected prenatally (before birth).
Some of the most common birth defects affect the heart. About one in every 200 to 300 babies is born with a heart defect. Depending on the type and severity of the heart defect, it may be corrected by surgery. Another common group of birth defects is called “neural tube” defects. These are due to abnormal development of the baby’s spine or brain and affect about one in 1,000 babies. These defects are sometimes very severe, causing early death or severe paralysis. Birth defects of the lip and the roof of the mouth are also common. They are referred to as cleft lip and cleft palate and affect about one in 700 to 1,000 babies.
Many birth defects are caused by multiple factors, both genetic and environmental. For example, the risk of neural tube defects is increased in families with a history of neural tube defects, but the risk can be reduced with folic acid supplements (4 mg per day) during early pregnancy. Uncontrolled medical conditions of the mother—for example, diabetes or PKU—can lead to birth defects. Some medicines such as Accutane are known to cause birth defects.
To learn more about your risk of having a baby with a birth defect, talk with your doctor or a genetic counselor. In particular, women should consult their doctor before becoming pregnant to begin multi-vitamin supplements containing folic acid, get help managing their medical conditions, decide which medications are safe to take, and avoid exposure to alcohol, drugs, and tobacco.
All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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