Only a small percent of babies are born with a birth defect, but just about every mother-to-be and some fathers-to-be worry about their baby having a birth defect. Most parents assume that all birth defects are severe or fatal, but the fact is that many are treatable, often immediately after birth and more recently even before the baby is born.

What is a birth defect?
A birth defect is something abnormal that is present at birth. It also is called a congenital disorder. The vast majority of birth defects happen during the first three months of pregnancy. Birth defects can vary from being very mild to severe or even life threatening. A birth defect can affect how the baby’s body looks, works or both. A birth defect can be detected before birth, at birth or anytime after birth. Some birth defects can be easily detected while others require special tests. In approximately 70% of babies born with birth defects, the cause is not known. It is important to realize that most children born with congenital defects are born to two healthy parents. In some birth defects, there are no known risk factors.

Risk factors for birth defects
Your obstetrician can help you learn about your risk factors for having a baby with a birth defect. There are several risk factors for birth defects. You may have an increase risk of having a baby with a birth defect if you are aged 37 and older when the baby is due, have a family history of birth defects, had a previous child with a birth defect, used certain medicines or have certain chronic medical disorders. Having a risk factor does not mean you will definitely have a baby with a birth defect. Some women are offered certain screening tests that look for signs that your baby might have a genetic defect.

Types of birth defects
There are more that three thousand different birth defects known. These can be divided into several types such as structural, genetic and those caused by exposure to an infectious disease or a harmful chemical agent. Some birth defects may overlap.

Structural birth defects
In a structural birth defect, some part of the baby’s body is missing or is not formed right. For example, a baby with a hole in its heart or born with no limbs. Heart defects are the most common type of birth defect. Defects that result when the coverings over the spinal cord or brain do not close properly also occur frequently.

Genetic birth defects
These birth defects occur as a result of errors in one or more genes passed on by the parents (inherited defects) by a missing, damaged or extra chromosome, or by a mixture of factors. A common example of this in Anguilla is Sickle cell disease.

Exposure to infections and harmful chemical agents
Some birth defects can occur when the developing fetus is exposed to maternal infections (infections in the mother) or the mother drinks alcohol in excess or takes certain medicines. Birth defects can occur if the mother is exposed to high amounts of toxic agents such as mercury, lead or radiation during pregnancy.

Preventing birth defects
Some birth defects can be prevented. A mother can decrease her risk of having a baby with a congenital disorder by taking care of herself and avoiding harmful substances. If you are thinking about getting pregnant it is recommended that you see an obstetrician prior to getting pregnant; and if you have a medical disorder such as diabetes or epilepsy it is even more important to see your doctor, as birth defects are more common with these disorders.
Folic acid-taking supplements or eating foods with folic acid can help prevent neural tube defects. High doses of multivitamins should be avoided, as some vitamins in high doses can be harmful.

Alcohol and other drugs
Excessive alcohol use during pregnancy is a leading cause of mental retardation. Some babies may also develop fetal alcohol syndrome. It is not clear how much, if any, alcohol is safe during pregnancy, therefore it is wise for pregnant women to avoid drinking any alcohol.

Infections
Cytomegalovirus (CMV) is the most common viral infection in newborn babies. Most CMV infections cause no significant problems, but in severe cases they may cause birth defects. Rubella (German measles) can cause birth defects. All girls and women should be vaccinated against this disease if not they should be vaccinated at least one month before becoming pregnant. Sexually transmitted infections such as syphilis and herpes can cause birth defects. Being tested and receiving treatment for sexually transmitted infections can prevent or reduce damage to the fetus.
Other factors affecting birth defects
Radiation in high doses, such as that used to treat cancer, can cause birth defects. The smaller doses used for most tests are not usually harmful to the fetus. Very high doses of vitamin A have been linked to severe birth effects. The pregnant mother should not use more than 5000 international units (IUs) of vitamin A. Some medicines can be harmful. Please tell your doctor what medications you are taking, but do not just stop taking them on your own without talking with your doctor. Check with your doctor before taking any over-the-counter medications, including pain relievers, laxatives, cold or allergy remedies and herbal products.

Ultrasound screening
An ultrasound examination can be done at any time during pregnancy. It may indicate the presence of a birth defect, and a further detailed ultrasound exam will be done to assess the health of the developing fetus. A comprehensive or detailed ultrasound exam looks for specific problems.

Other tests
A number of maternal screening tests are done in women with increased risks of fetal defects. Other diagnostics tests are also used to detect birth defects. It should be pointed out that despite the availability of a variety of tests some babies are born with undetected birth defects. Parents usually must have pre and post-test counselling so that they make informed decisions about the developing fetus with a birth defect.

Treatment
If diagnostic tests show that a mother will have a birth defect, her doctor will talk to her about her options. Sometimes prenatal surgery or treatment can be done. In some cases, there is no prenatal treatment for a defect. Some couples have to make some hard decisions when they discover that the developing baby has a birth defect. If a major problem is found some couples might opt for terminating the pregnancy, other couples might choose to continue the pregnancy even if the baby will have severe problems or die shortly after birth. The support of family, friends and support groups will be helpful for couples with children with birth defects. In some cases surgery can be done shortly after birth, or at a later date, and the baby can go on to develop normally. In a few cases the birth defect might very serious and can be fatal.

Conclusion
The vast majority of babies are born without a birth defect. Birth defects can be mild or serious. Some birth defects can be successful treated. Women expecting to become pregnant and pregnant women should take certain steps so that they can decrease their chances of having a baby with a birth defect. Seeing an obstetrician early in their pregnancy and receiving good prenatal care can help women stay healthy during pregnancy and also help to detect a birth defect in advance.

Ask Your Doctor is a health education column and is not a substitute for medical advice from your physician. Dr. Brett Hodge is an obstetrician/gynaecologist and family doctor who has over twenty years in clinical practice. Dr. Hodge has a medical practice in the Johnson Building in The Valley.

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