Birth Defects in Children
What is a birth defect in children?
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.
What causes birth defects in a child?
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
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:
- Inheritance and gene defects. Inheritance means a trait passed on to you from one of your parents. 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. The things are
usually both genetic and environmental.
- Teratogens. A teratogen is a substance that can cause a birth defect. It is usually something
in the environment that the mother may be exposed to during her pregnancy. It could
be a prescribed medicine, a street 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 birth defects?
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.
What are the symptoms of birth defects in a child?
Symptoms vary widely. They depend on the type of birth defect. Symptoms can occur
differently in each child. They can include things such as:
- Abnormal shape of head, eyes, ears, mouth, or face
- Abnormal shape of hands, feet, or limbs
- Trouble feeding
- Slow growth
- Frequent infections
- Joint problems
- Spinal cord not fully enclosed (spina bifida)
- Kidney problems
- Heart problems
- Intestinal problems
The symptoms of birth defects can be like other health conditions. Make sure your child
sees his or her healthcare provider for a diagnosis.
How are birth defects 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.
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:
- Human chorionic gonadotropin (hCG). This is a hormone released by some cells in the placenta. High hCG levels may mean
that the baby has Down syndrome. This condition is a chromosome problem. It causes
learning problems and some physical changes.
- Estriol. This is a hormone made by the placenta, and by the baby’s liver and adrenal glands.
Low levels may mean the baby has Down syndrome.
- Inhibin. This is a hormone made by the placenta. Abnormal levels may mean an increased risk
for Down syndrome.
Nuchal translucency screening
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
Chorionic villus sampling (CVS)
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
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.
Noninvasive prenatal screening
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.
How are birth defects 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 the possible complications of birth defects in a child?
Possible complications vary widely by type of birth defect. They may include one or
more of the following:
- Heart problems
- Intestinal problems
- Vision problems
- Hearing problems
- Thyroid problems
- Learning problems
- Middle ear infections
- High blood pressure
- Severe infections
- Chronic lung disease
- Attention deficit/hyperactivity disorder
- Obsessive compulsive disorder
How can I help prevent birth defects 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 involved 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
- Call your healthcare 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
develop 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.
When should I call my child’s healthcare provider?
Call the healthcare provider if your child has:
- Symptoms that don’t get better, or get worse
- New symptoms
Key points about birth defects in children
- A birth defect is a health problem or 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 healthcare 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
- 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.
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 recommended 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.