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 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 cleft palate, and certain heart defects.
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 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
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. 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 her 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 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, 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.
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 head, eyes, ears,
mouth, or face
- Abnormal shape of hands, feet, or
- Trouble feeding
- Slow growth
- Frequent infections
- Joint problems
- Spinal cord not fully enclosed (spina
- Kidney problems
- Heart problems
- Intestinal problems
The symptoms of birth defects can
seem like other health conditions. Have your child see 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
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 (alpha-fetoprotein). This protein 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.
It’s 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 often
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.
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 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.
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.
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
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
- High blood pressure
- Severe infections
- Chronic lung disease
- Obsessive compulsive disorder
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:
- Keep all appointments with your baby’s
- 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.
- 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
- 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
- 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.
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
- 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.