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What Are Congenital Anomalies?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 23 September 2014
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Congenital anomalies are abnormalities in the body which are present at birth. These include everything from extra digits to incompletely formed brains. Also known as congenital abnormalities or birth defects, congenital anomalies are identified in around three out of every 100 births. There are a number of reasons for babies to be born with anomalies and they are not necessarily harmful or the fault of the parents.

In fact, over half of congenital anomalies are what is known as “sporadic,” meaning that there is no known cause or risk factor. Others may be the cause of environmental exposures, ranging from medications taken during pregnancy to exposure to teratogenic chemicals at the workplace. Genetic conditions can also cause congenital anomalies, and these conditions may be spontaneous in nature or inherited.

Some congenital anomalies are identified at birth because they are physically obvious, as for example when an infant is born with an extra finger, or because they cause health problems which require medical attention, as might be the case with an infant born with a congenital heart defect. Congenital anomalies may also be identified later in life as they interfere with development or become more apparent with time. Sometimes, someone lives an entire life without being aware of a congenital anomaly and it is only discovered after death during an autopsy.

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When a congenital anomaly is found, the doctor usually recommends determining the cause, if possible, and looking for any related medical issues which might need to be addressed. This information is used to inform parents about their options in terms of treatment.

In some cases, no treatment may be recommended. Some anomalies, such as being born with different colored eyes, are not harmful and there is no reason to treat them. In other cases, treatment such as surgery may be recommended for cosmetic reasons, or a doctor may suggest that parents wait for the child to grow a little older so that the child can have a role in choosing whether or not to have surgery or other treatments.

In other cases, congenital anomalies can be life threatening and they require immediate treatment, or they are medical issues which need to be managed, although they may not necessarily be fatal. For example, some genetic disorders need to be treated with medications to keep the baby healthy, and things like heart defects need to be corrected with surgery. A waiting period may be required for surgery to allow the baby to get stronger first.

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dfoster85
Post 2

@rugbygirl - I didn't see any definitions of congenital that included conditions caused by diseases like that. But what you have is indeed called "congenital toxoplasmosis."

I think people tend to imagine something more like congenital heart disease, but your condition "counts," too. (A friend of mine found out after a level II ultrasound that her unborn child had a congenital heart defect. Fortunately, surgeons were able to repair it shortly after birth and her little girl is all right.)

rugbygirl
Post 1

If something is caused by a disease, is it still considered congenital? I was born with toxoplasmosis; my mother must have picked it up during pregnancy. (If you've ever heard that you shouldn't change a litter box during pregnancy, this is why, although my mom seems to have picked it up in her garden.)

It can make babies very sick, but I was fortunate enough to have a mild condition that wasn't even diagnosed until I was 16. (I have cysts and scar tissue in one eye, causing slightly impaired vision. It can't be cured and sometimes the cysts "wake up" and have to be treated.) So I was born with a problem, however small. Is that a congenital malformation?

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