A birth defect is a health problem or physical change that is present when a baby is born. Birth defects are also called congenital anomalies or congenital abnormalities. The word congenital means present at birth.
Birth defects can be very mild, where the baby looks and acts like any other baby. Or birth defects can be more severe. Some birth defects cause a single problem. Others cause problems in more than one body system or organ. Birth defects may cause lifelong disability and illness. Some severe birth defects can be life-threatening. A baby may live for only a few weeks or months. Or a child may die at a young age, such as when he or she is a teen.
Some birth defects can’t be cured. These include defects that cause learning or thinking problems. But many physical birth defects can be treated with surgery. Repair is possible for many birth defects, including cleft lip or palate, and certain heart defects.
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 can’t be answered. This can be very upsetting for parents because it’s normal to want to know why your baby has a health problem.
Birth defects can happen for many reasons. They can happen because of the mother’s exposure to certain things while she is pregnant. Or they can happen because of certain genes or changes in genes (mutations). It could also be a combination of these things. But often the cause isn’t known.
The different causes of birth defects include:
Birth defects are found in babies all over the world, in families of from all countries and backgrounds. Any time a woman becomes pregnant, there is a chance the baby will have a birth defect. Most babies are born healthy. In fact, 97 out of every 100 babies born in the U.S. are healthy. The risk for birth defects varies by type of defect, family health history, age of parents, and other factors. Your healthcare provider can tell you more about your child’s risk for birth defects.
Symptoms vary widely. They depend on the type of birth defect. Symptoms can occur differently in each child. They can include things such as:
The symptoms of birth defects can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
Many birth defects can be diagnosed before birth with tests. Chromosome problems such as Down syndrome can be diagnosed before birth by looking at cells in the amniotic fluid or from the placenta. Or they can be found by looking at the baby’s DNA in the mother’s blood (noninvasive prenatal screening). These tests are very accurate.
Fetal ultrasound during pregnancy can also show the possibility of certain birth defects. But ultrasound is not 100% accurate. Some babies with birth defects may look the same on ultrasound as those without problems.
Tests that can be done while a baby is in the uterus include the following.
This blood test measures the levels of a protein called AFP that is released by the baby’s liver and is found in the mother's blood. AFP is sometimes called maternal serum AFP (MSAFP). AFP screening may be one part of a 2-, 3-, or 4-part screening, often called a multiple marker screen. The other parts are:
This is an ultrasound test usually done late in the first trimester. Thickening of the area at the back of the baby’s neck may mean an increased risk for Down syndrome or other chromosome problems.
This test takes a small sample of the amniotic fluid that surrounds the baby. The sample is used to diagnose chromosome problems and open neural tube defects such as spina bifida. Testing can be done for other genetic defects and disorders. This depends on family history and lab testing available at the time of the test. The American College of Obstetricians and Gynecologists advises amniocentesis around 15 to 20 weeks of pregnancy for women who are at higher risk for chromosome problems. These include women who are older than 35 at delivery. It also includes women who have had an abnormal blood test that means they are at higher risk for a chromosome problem or neural tube defect such as spina bifida. In some cases, amniocentesis may be done as early as 14 weeks.
This test takes a sample of some tissue from the placenta. This tissue has the same genetic material as the baby. It can be tested for chromosome problems and some other genetic problems. This depends on family history and lab testing available at the time of the test. Unlike amniocentesis, CVS does not give information on neural tube defects such as spina bifida. Women who have the CVS test also need a follow-up blood test between 16 and 18 weeks of pregnancy. This blood test is to screen for neural tube defects.
This is a test that uses sound waves to create an image of the internal organs. Some physical birth defects can be found with ultrasound.
This is a test that looks at the mother's blood. The lab looks for genetic material called DNA that comes from the placenta. This DNA is the same as the baby’s DNA. The lab looks for chromosome problems such as trisomy 13, trisomy 18, and trisomy 21.
Sometimes, birth defects are not diagnosed until after birth. A baby may be diagnosed with a physical exam by a healthcare provider. The healthcare provider may also take a blood sample. This is looked at in a lab to find chromosome problems. This is important so the parents know the risk for that birth defect in future pregnancies.
There is no cure for birth defects. But children can often be treated to help reduce problems. Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Children may benefit from surgery, medicines, physical or occupational therapy, education intervention, and other types of help. Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.
Possible complications vary widely by type of birth defect. They may include one or more of the following:
Researchers are trying to find ways to prevent many birth defects. Not all birth defects can be prevented. There are only a few ways currently known to help prevent certain defects. Taking steps to be healthy before and during pregnancy is important. Getting vaccinated against certain infections such as rubella can prevent birth defects caused by that infection. Not drinking during pregnancy can prevent birth defects caused by alcohol. Taking a prenatal vitamin that includes folic acid can help prevent neural tube defects such as spina bifida.
If your baby is born with a birth defect, you can do certain things to take care of yourself and your baby:
Call the healthcare provider if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider: