Get the facts about birth defects

Each January, National Birth Defects Awareness Month is observed to raise awareness, help improve the health of people with these conditions, and expand the networks of support. Most birth defects are not preventable, and many are critical conditions that can cause lifelong challenges. However, thanks to medical advances in diagnosis and treatment, women and their babies now receive better care than ever before.

A common condition

Birth defects are structural changes present at birth that can affect almost any parts of the body. They may affect the body’s appearance, function, or both. Birth defects can vary from mild to severe, and the well-being of each child affected with a birth defect mainly depends on the severity of the defect and what organ or body part is affected. Depending on severity, a defect may or may not affect a person’s expected lifespan.

Birth defects are common, most have unknown causes, and many can be detected in babies before they are born. Here are some facts from the Centers for Disease Control and Prevention:

  • Birth defects affect 1 in 33 babies born in the United States each year.
  • Birth defects are the cause of 1 in every 5 deaths during the first year of life.
  • About 3% of babies will be identified as having a defect at birth.
  • Another 3% have defects that are diagnosed later in childhood or adulthood.
  • Any structural difference that requires treatment or repair later in life is still characterized as a birth defect.

Medical advancements have greatly improved the health and survival of people with birth defects, but many conditions require lifelong care. Click here for information on specific types of birth defects.

Know the risks

The exact causes of about 70% of birth defects are still unknown, but research suggests that genetic (inherited), nutritional, and environmental factors all play a role. Some women may be at increased risk of having a baby with a birth defect because of maternal risk factors such as age, general health, and medical or family history.

Although most birth defects can’t be prevented, there are things women can do before and during pregnancy to reduce their chances, including:

  • See your doctor regularly, and begin prenatal care as soon as you think you might be pregnant.
  • Take 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant.
  • Don’t drink alcohol or smoke.
  • Talk to your doctor about any medications you are taking or thinking about taking. Don’t stop or start taking any type of medication without talking to your doctor.
  • Learn how to prevent infections during pregnancy.
  • If possible, make sure that any medical conditions you may have are properly managed before becoming pregnant. Some conditions, such as diabetes, can increase the risk for birth defects.

Click here for detailed information from the National Institutes of Health (NIH) about the risk of birth defects.

Testing and diagnosis

Birth defects and genetic conditions can be detected with blood tests or imaging scans, such as ultrasounds. If a screening test shows something abnormal, providers recommend certain diagnostic tests, which may lead to additional testing depending on the results. Women with high-risk pregnancies also may need additional tests.

Health care providers may diagnose certain birth defects after a baby is born. Some conditions can be immediately diagnosed, but others will receive a diagnosis in later childhood or even adulthood.

Better planning is better care

Medical professionals continue to discover new ways to prevent, treat, and manage birth defects. Sherri Jenkins, M.D., director of obstetrical ultrasound for the UAB Division of Maternal and Fetal Medicine, says that identifying problems in advance and having a plan in place can make a significant difference in caring for babies born with defects.

“Testing and imaging give us information in advance, and that can create many advantages in getting the best outcomes for mothers and babies,” Dr. Jenkins said. “If a severe heart condition is not diagnosed before birth, it can be life-threatening after delivery. When we identify a severe congenital heart lesion prenatally, we can make sure delivery of that baby takes place in a center where pediatric cardiologists and thoracic surgeons are on hand to provide care.


There is some good news in the area of birth defects. Researchers are now identifying genes that are linked to birth defects, which could lead to new treatments and cures. Genetic counseling provides parents with information about their risks based on family history, age, ethnic or racial background, and other factors.

Immunization helps prevent infections that can harm unborn babies. Better health care for mothers with medical problems, such as obesity or diabetes, may increase their chances of having healthy babies. Infant screening tests and specialized care after birth help babies born with birth defects live longer and healthier lives.

Dr. Jenkins says there also have been improvements in managing severe conditions. “In the case of certain severe heart defects, for example, we may have the option of surgeries to stabilize those conditions and allow the child to have a reasonable quality of life,” she said. “Certain severe conditions will require preparation for significant life changes for the family as part of lifelong care for the child.”

“Today we have more resources, support organizations, technology, and understanding from people in the community, which allows a better support network for affected children and their families,” Dr. Jenkins continued. “As appropriate, we have our patients meet with a genetic counselor, to make sure they understand their child’s condition and ensure they are adequately counselled in preparation for the future. The two most important things to keep in mind are that parents should never feel they are to blame for any abnormalities their baby may have, and that a network of advanced medical care and family support is available.”

UAB Medicine is a leader in diagnosing and treating abnormalities among unborn infants in Alabama and the Southeast. Learn more about the UAB Fetal Diagnosis and Care Clinic.

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