What is a birth defect in a child?

A birth defect (congenital anomaly) is a health problem or abnormal physical change that is present when a baby is born.

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 1 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 they are 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 cleft palate, and certain heart defects.

What causes a birth defect in a child?

When a baby is born with a birth defect, the first question often asked by the parents is "How did this happen?" Sometimes this question can’t be answered. This can be very upsetting for parents. 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 environmental factors, infections, or illegal drugs. They can also occur if there is a vitamin deficiency during pregnancy. 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:

• Inheritance and gene defects. Inheritance means a trait passed on to you from a parent. Examples of normal inherited traits are eye color and blood type. Genes are what give you your traits. Sometimes a child can inherit not only those genes for normal traits such as eye color, but also disease-causing genes that cause a birth defect.

• Chromosome problems. Chromosomes are stick-like structures in the center (nucleus) of each cell. Chromosomes contain your genes. Changes in chromosomes can cause health problems.

• Multifactorial inheritance. This means that many things are involved in causing a birth defect. These things are often both genetic and environmental.

• Teratogens. A teratogen is a substance that can cause a birth defect. It is often something in the environment that the mother may be exposed to during pregnancy. It could be a prescribed medicine, an illegal drug, alcohol use, a toxic chemical, or a disease that the mother has. Any of these could increase the chance for the baby to be born with a birth defect.

Which children are at risk for a birth defect?

Birth defects are found in babies all over the world, in families from all countries and backgrounds. Any time a person becomes pregnant, there is a chance the baby will have a birth defect. Most babies are born healthy. But almost 1 in every 33 babies born in the U.S. has a major birth defect. 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.

What are the symptoms of a birth defect in a child?

Symptoms vary widely. They depend on the type of birth defect. Symptoms can be a bit different for each child. They can include things such as:

• Abnormal shape of the head, eyes, ears, mouth, or face

• Abnormal shape of the hands, feet, or limbs

• Trouble feeding

• Slow growth

• Frequent infections

• Joint problems

• Spinal cord that isn't fully enclosed (spina bifida)

• Kidney problems

• Heart problems

• Intestinal problems

The symptoms of birth defects can seem like other health conditions. Have your child see their healthcare provider for a diagnosis.

How is a birth defect diagnosed in a child?

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:

How is a birth defect treated in a child?

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.

What are possible complications of a birth defect in a child?

Possible complications vary widely by type of birth defect. They may include 1 or more of the following:         

• Heart problems

• Intestinal problems

• Vision problems

• Hearing problems

• Thyroid problems

• Learning problems

• Middle ear infections

• Diabetes

• High blood pressure

• Severe infections

• Chronic lung disease

• Autism

• Attention-deficit/hyperactivity disorder (ADHD)

• Obsessive compulsive disorder (OCD)

• Anxiety

How can I help prevent a birth defect in my child?

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.

How can I help my child live with a birth defect?

If your baby is born with a birth defect, you can do certain things to take care of yourself and your baby:

• Keep all appointments with your baby’s healthcare provider.

• Talk with your healthcare provider about other providers who will be included in your child’s care. Your child may receive care from a multidisciplinary team. This team may include counselors, social workers, clergy, genetic counselors, dietitians, physical therapists, and speech therapists. Your child’s care team will depend on your baby’s condition.

• Call your provider if you are concerned about your baby’s symptoms.

• Think about having genetic testing and counseling to understand your risk.

• Tell others of your baby’s condition. Work with your child’s healthcare provider to create a treatment plan.

• Ask for support from local community services. This may include your faith community and organizations that specialize in birth defects, such as the March of Dimes.

Key points about birth defects in children

• A birth defect is a health problem or abnormal physical change that is present when a baby is born. Birth defects range from very mild to life-threatening and limiting.

• Birth defects can happen for many reasons. But often the cause isn’t known.

• Many birth defects can be diagnosed before birth with tests. Your healthcare provider will talk with you about testing.

• The risk for birth defects varies by type of defect, family health history, age of parents, and other factors. Your provider can tell you more about your risk of having a child with a birth defect.

• There is no cure for birth defects. But children can often be treated to help reduce problems.

• Researchers are trying to find ways to prevent many birth defects. Not all birth defects can be prevented. Taking steps to be healthy before and during pregnancy is important.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

• Know the reason for the visit and what you want to happen.

• Before your visit, write down questions you want answered.

• At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is advised and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.