A birth defect is a problem that occurs when a baby is developing in utero (in the womb). Birth defects can be minor or severe. They may affect appearance, organ function, and physical and mental development.
Most birth defects are present within the first three months of pregnancy, when the organs are still forming. Some birth defects are harmless. Others require long-term medical treatment. Severe birth defects are the leading cause of infant death in the United States, accounting for 20 percent of deaths.
What causes birth defects?
Different birth defects have different causes, and the causes of many birth defects remain unknown.
A specific condition might be caused by one or more of the following primary problems:
- Genetic problems. One or more genes might have a change or mutation that results in them not working properly, such as in Fragile X syndrome. Similarly, a gene or part of the gene might be missing.
- Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing, such as in Turner syndrome, when a female is missing an X chromosome. Other birth defects result from having an extra chromosome, such as in Klinefelter syndrome and Down syndrome.
- Infections. Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. For example, infection with Zika virus during pregnancy is linked with the birth defect called microcephaly, in which the brain and skull are smaller than normal. Zika infection in pregnancy is linked to other structural problems with the brain as well.
- Exposure to medications, chemicals, or other agents during pregnancy. The infants whose mothers took thalidomide are examples of an exposure leading to birth defects. Other examples include exposure to rubella (also called German measles) and toxic chemicals, such as hydrocarbons
How are birth defects treated?
Treatment options vary depending on the condition and level of severity. Some birth defects can be corrected before birth or shortly after. Other defects, however, may affect a child for the rest of their life. Mild defects can be stressful, but they don’t typically affect overall quality of life. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or even death. Speak with your doctor about the appropriate treatment for your child’s condition.
Medications: Medications may be used to treat some birth defects or to lower the risk of complications from certain defects. In some cases, medication may be prescribed to the mother to help correct an abnormality before birth.
Surgeries: Surgery can fix certain defects or ease harmful symptoms. Some people with physical birth defects, such as cleft lip, may undergo plastic surgery for either health or cosmetic benefits. Many babies with heart defects will need surgery, as well.
Home care: Parents may be instructed to follow specific instructions for feeding, bathing, and monitoring an infant with a birth defect.
How can birth defects be prevented?
Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect.
Women who plan to become pregnant should start taking folic acid supplements before conception. These supplements should also be taken throughout the pregnancy. Folic acid can help prevent defects of the spine and brain. Prenatal vitamins are also recommended during pregnancy.
Women should avoid alcohol, drugs, and tobacco during and after pregnancy. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects when taken by a pregnant woman. Make sure to tell your doctor about any medications you may be taking, including over-the-counter drugs and supplements.
Most vaccines are safe during pregnancy. In fact, some vaccines can help prevent birth defects. There is a theoretical risk of harm to a developing fetus with some live-virus vaccines, so these kinds should not be given during pregnancy. You should ask your doctor which vaccines are necessary and safe.
Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. Women with pre-existing conditions, such as diabetes, should take special care to manage their health.
It’s extremely important to attend regular prenatal appointments. If your pregnancy is considered high risk, your doctor can do additional prenatal screening to identify defects. Depending on the type of defect, your doctor may be able to treat it before the baby is born.
If someone in your family has a birth defect, discuss treatment options with that individual’s health care providers.