When a baby is born with a birth defect, the first question usually asked by the parents is "how did this happen?" Sometimes, this question cannot be answered. This can be very upsetting for parents because it is normal to seek an answer as to why your baby has a health problem. For some birth defects, however, there is a known cause, which may have to do with either genetic or environmental factors, or a combination of the two. Here is some general information and terms related to the different causes of birth defects:
The risk of an infant having a birth defect varies according to the mother’s age and the medical history of both parents. Women less than 35 years of age at delivery with no personal or family history of birth defects are at low risk. At your initial prenatal visit, your doctor will evaluate your risk of having a baby with a birth defect. You should also receive information about the available tests for further evaluating your risk. Despite the absence of risk factors, some low-risk women do have babies with birth defects.Prenatal screening tests are used to assess the risk of having an infant with a birth defect in women with low risk. Diagnostic tests help confirm or exclude the presence of birth defects before delivery in women with increased risk.
If a genetic or other problem is present, you and your medical caregivers
should discuss your options. These problems can influence how you deliver your
baby (C-section), where you deliver (in a hospital with a newborn intensive
care unit), and who will be present at delivery (pediatric
Many birth defects can be diagnosed before birth with special tests (prenatal diagnosis). Chromosomal abnormalities such as Down syndrome can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of certain birth defects, but ultrasound is not 100 percent accurate, since some babies with birth defects may look the same on ultrasound as those without problems. A chromosome analysis, whether performed on a blood sample or cells from the amniotic fluid or placenta, is very accurate.
Tests that help screen for birth defects include the following:
Sometimes, birth defects are not diagnosed until physical examination of
the baby after birth. To confirm the physical findings, a small blood sample
can be taken and the chromosomes can be analyzed. This information is important
in determining the risk for that birth defect in future pregnancies.
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.
care: Parents may be instructed to follow specific instructions for feeding,
bathing, and monitoring an infant with a birth defect.