BIRTH DEFECT

Definition: Any structural difference in the baby’s body. Also called congenital anomaly or congenital malformation.

1. What are birth defects?

Birth defects are changes in the normal structure of the body that are present when the baby is born. They may be minor problems, like a small extra finger or a large birthmark, or significant problems, such as a missing limb or an abnormal heart.

2. What causes birth defects?

Some birth defects are caused by genetic problems such as chromosome abnormalities or mutations (changes) in a particular gene. Other defects are caused by exposure to a toxin during pregnancy. Alcohol, the acne medicine isotretinoin (Accutane), and methyl mercury are recognized as causing birth defects if the fetus is exposed to these substances early in the pregnancy. Some birth defects are multifactorial; they have many factors that cause them, some of which are genetic and some of which are environmental.

3. What sort of tests should be done on my child?

The specific tests that your physician may perform will depend on what part of the body is affected. Typical tests include ultrasounds of the head and abdomen, X rays, CT or MRI scans, and echocardio- grams (ultrasounds of the heart). These tests are done to determine how serious the problem is and whether there are other problems. Your child may get some or all of these tests. Genetic testing is done to try to determine the cause of the birth defect. These may include an analysis of the baby’s chromosomes, tests for specific mutations, or tests of the baby’s metabolism.

4. What is the treatment for birth defects?

The treatment depends on the birth defect. Some do not need treat- ment. Some can be treated easily while the baby is in the nursery or soon after birth. Many require monitoring by a specialist, and some can only be fixed using surgery.

5. No one else in the family has this problem; why did it happen to my child?

About one out of every twenty babies (5 percent) are born with some sort of birth defect. There are many things that have to go right in order for babies to be born normal. Sometimes this just doesn’t happen. Much of the time it is impossible to say why a particular baby has a birth defect. Sometimes a problem can run in a family without causing difficulty until a baby is born with a serious version of it.

6. Do we need to consult with a geneticist or any other specialist?

Yes. All babies with birth defects can benefit from seeing a doctor who specializes in genetics. The geneticist will help determine whether the problem is isolated or whether there is a larger “syndrome.” It is always helpful to have the input of a geneticist before undergoing genetic testing. He or she can also help find out whether the problem runs in the family and what your chances are of having another affected child.

7. Will my next child have birth defects?

Whether birth defects will happen in another child depends on what the defects are and what caused them. All pregnancies have a risk of about 5 percent (one in twenty) that the baby will have a birth defect. Having one child with a birth defect increases your chances of having another. The first step is to have a firm diagnosis of the problem in your affected child.

8. How early can birth defects be diagnosed?

Large birth defects, such as spina bifida, can be detected in the late first trimester of pregnancy. As pregnancy progresses and the fetus gets larger, other birth defects can become apparent. If your doctor knows you have one child with a particular problem, then the doctor can specifically look for that problem. Some birth defects, such as cleft palate, are very difficult to diagnose before birth. All birth defects can be diagnosed after birth, but some are not found until the child is older, or unless they cause a problem.

9. Is there a way to prevent birth defects?

Every pregnancy is at risk for birth defects. There is no guaranteed way to eliminate all of them, but you can reduce the risk. Here are some ways to reduce your risk of having a child with birth defects:

• Be as healthy as possible before you get pregnant. Control chronic illnesses and start taking prenatal vitamins or at least 
  folic acid supplements. 
• Plan and space out your pregnancies and get good care during 
  your pregnancy. 
• Do not smoke or drink alcohol while pregnant. Do not use any 
  medications without talking to your doctor. Remember that everything that you put in your body also is going into the baby’s body. 
• Seek out information about your personal risk from a geneticist if anyone in your family has a birth defect or has had a child who died or required surgery before one year of age. The same applies to someone who comes from a culture in which people marry within the extended family or someone who has had two or more pregnancy losses.
  

10. Will in vitro fertilization prevent birth defects?

No. There are some fertility treatments that can be used to avoid a particular birth defect or genetic condition, but there is never a guar- antee that a child will be normal. It has also been found that artificial reproductive techniques have a higher than normal incidence of certain problems in the baby. One of these problems is hypospadias, which is an abnormality of the penis. Another problem is called an imprinting defect. This is an abnormality in the way the early embryo manages the genetic material that can lead to some specific genetic syndromes.

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