Pediatrics Common Questions, Quick Answers

Birth Defects (Congenital Anomalies)

Donna D'Alessandro, M.D.
Lindsay Huth, B.A.
Peer Review Status: Internally Reviewed
Creation Date: June 2002
Last Revision Date: June 2002

• What is a birth defect?
• What causes birth defects?
• Who can get birth defects?
• Can they be prevented?
• What if my baby is born with a birth defect?
• How are birth defects treated?
• How can parents and families cope?

What is a birth defect?

• Birth defects are also called "congenital anomalies," "congenital defects," or "congenital abnormalities."
• A birth defect is a health problem that happens with a baby's growth or development before birth.
• A baby who has a birth defect is born with a health problem.
• Birth defects can be mild to severe. Some may be hard to notice while others can be life threatening.

What causes birth defects?
Many causes are not known. Doctors do not know why some babies are born with health problems. Some defects are caused by environmental factors. Others are caused by genetic factors.

Environmental Factors

• If mothers are exposed to specific things while they are pregnant, it can hurt the baby's health.
• Examples include medications, drugs, diseases, radiation, or infections.
• Defects can be caused by injury to the unborn baby.
• If the mother does not eat healthy during pregnancy, it can cause birth defects.

Genetic Factors

• Every person has different genes. Genes decide what people will look like, their health when they are born, and how they will grow and develop.
• Problems with a parent's genes can be passed down to a baby.
• Sometimes, the baby has problems with his genes even if his parents are healthy.

Who can get birth defects?

• Anytime a woman is pregnant there is a chance the baby could be born with a health problem.
• Parents of any race and nationality can have a baby with a birth defect.
• In a family with a history of birth defects, there may be a higher chance that the baby could be born with a birth defect.
• Most babies are born without any health problems.
• 96 or 97 babies out of every 100 are born healthy.
• 3 or 4 babies out of every 100 are born with a birth defect.

Can they be prevented?

• Avoiding certain environmental factors decreases the risk of having a child with a birth defect. See "Causes" above.
• Any woman who can get pregnant should take 400-1000 mg. of folic acid daily.
• A pregnant woman should avoid using drugs, alcohol, and smoking. She should talk to a doctor before having X-rays. She should have regular checkups during pregnancy. She may need to be vaccinated against the German measles.
• Even mothers who avoid all of the causes listed above have a chance of having a baby with a birth defect.
• Counselors can tell some parents what their chances are of having a baby with a certain defect.

What if my baby is born with a birth defect?

• In some cases, doctors can tell if the baby has a birth defect before he is born.
• Parents should be given information about the defect so that they can be prepared.
• Doctors should explain any procedures that will be done to the baby after he is born.
• Doctors should talk to parents about the baby's predicted quality of life.
• If you don't understand what the doctor says, ask her/him to explain again.
• If the birth defect is not expected, parents are often very scared for their child's health and want to know, "How did this happen?"
• Doctors should do their best to tell parents what the problem is and how serious it is.
• Doctors should explain what they are doing in simple terms, such as "The baby is having a problem with...... so we are going to ......"
• Sometimes, when a baby is born with a defect he has to be taken away from the parents for medical care. This is often upsetting to parents but is necessary. A medical team also will stay with the mother to take care of her.
• Sometimes, the baby will need tests, such as X-rays or blood tests.

How are birth defects treated?

• Some problems can be noticed at birth. Others take weeks or years to notice. It depends on what the defect is and how severe it is.
• Treatment will depend on the type of defect and the baby's condition.
• Some birth defects can be treated or repaired.
• Some birth defects can be treated before birth, but most are treated at delivery or later.
• Some birth defects are so small that they don't need to be treated.
• Some birth defects can cause severe damage to a child's health, growth, and development.

How can parents and families cope?

• Parents may have to leave their baby at the hospital if he has a birth defect. This can be a very hard experience.
• Families may feel guilty, angry, disappointed, and overwhelmed.
• Doctors, social workers, and support groups can help families deal with these feelings.
• It is important to offer support not only to parents, but also to siblings and relatives.
• Learning about the birth defect is often comforting and helps families feel more in control of their baby's health.
• Families are usually encouraged to spend as much time as they can with the baby at the hospital. Sometimes, mothers can receive postpartum (after delivery) care at the hospital with the baby.
• If a mother wants to breastfeed during the child's stay at the hospital, she should talk with doctors about options. The doctor may recommend using a breast pump.
• It is important for families to maintain their own good health. Eating healthy, exercising, and getting plenty of rest will help them deal with stress.
• Once the baby is home, families should continue to seek support. Schools and community centers, as well as doctors and social workers, are good sources of information.

Quick Answers

• A birth defect is a health problem that happens with a baby's growth or development before birth.
• Many causes are not known. Defects can be caused by environmental factors or genetic factors.
• Anytime a woman is pregnant there is a chance the baby could be born with a health problem.
• To help prevent birth defects, a pregnant woman should avoid using drugs, alcohol, and smoking. She should talk to a doctor before having X-rays. She should have regular checkups during pregnancy. She may need to be vaccinated against the German measles.
• If a baby has a birth defect, doctors should do their best to tell parents what the problem is and how serious it is.
• Diagnosis and treatment will depend on the type of defect and the baby's condition.
• Doctors, social workers, and support groups can help families deal with feelings they may have about having a child with a birth defect.

References

• The Children's Hospital of Philadelphia. Overview of Birth Defects. 1996-2001 (cited 2002 March 26).
• The Merck Manual. Birth Defects. 1995-2002 (cited 2002 March 26).
• Rutherford K. When Your Baby is Born with a Health Problem. KidsHealth. 2001 November (cited 2002 March 260.

See related Patient Topics Birth Defects or Genetics/Birth Defects.

See related Provider Topics Birth Defects or Genetics/Birth Defects.

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