• What is a birth defect?
• What are the most common birth defects?
• What is my chance of having a baby
with a birth defect?
• Do genetic factors play a role in causing birth defects?
• What causes birth defects?
• When in pregnancy do birth defects happen?
• What kind of health care provider can help find out what
caused my baby’s birth defect?
• Who coordinates the health care of my child who has a birth
defect?
• Where can I get information about my baby's birth
defect or genetic condition?
• How can I get in touch with parents of a child with the
same birth defect as my child?
• What is CDC doing to prevent and help find the causes for
birth defects?
What is a birth defect?
A birth defect is a problem that happens while
the baby is developing in the mother’s body. Most birth defects happen during
the first 3 months of pregnancy.
A birth defect may affect how the body looks,
works, or both. It can be found before birth, at birth, or anytime after birth.
Most defects are found within the first year of life. Some birth defects (such
as cleft lip or clubfoot) are easy to see, but others (such as heart defects or
hearing loss) are found using special tests (such as x-rays, CAT scans, or
hearing tests). Birth defects can vary from mild to severe.
Some birth defects can cause the baby to die.
Babies with birth defects may need surgery or other medical treatments, but, if
they receive the help they need, these babies often lead full lives.
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What are the most common birth defects?
One of every 33 babies is born with a birth
defect. A birth defect can affect almost any part of the body. The well being of
the child depends mostly on which organ or body part is involved and how much it
is affected.
Many birth defects affect the heart. About 1 in
every 100 to 200 babies is born with a heart defect. Heart defects make up about
one-third to one-fourth of all birth defects. Some of these heart defects can be
serious, and a few are very severe. In some places of the world, heart defects
cause half of all deaths from birth defects in children less than 1 year of age.
Other common birth defects are “neural tube
defects,” which are defects of the spine (spina bifida) and brain (anencephaly).
They affect about 1 of 1,000 pregnancies. These defects can be serious and are
often life threatening. They happen less often than heart defects, but they
cause many fetal and infant deaths.
Birth defects of the lip and roof of the mouth are
also common. These birth defects, known as “orofacial clefts,” include cleft
lip, cleft palate, and combined cleft lip and cleft palate. Cleft lip is more
common than cleft palate. In many places of the world, orofacial clefts affect
about 1 in 700 to 1,000 babies.
Some birth defects are common but rarely life
threatening, though they often require medical and surgical attention.
“Hypospadias,” for example, is a fairly common defect found in male babies. In
babies with hypospadias, the opening of the urethra (where urine comes out) is
not at the tip of the penis but on the underside. Treatment depends on how far
away from the tip the opening is and can involve complex surgery. This defect is
rarely as serious as the others listed above, but it can cause great concern and
sometimes has high medical costs. It rarely causes death.
These are only some of the most common birth
defects. Two final points are worth noting. First, genetic conditions, though
not mentioned so far, also occur often. Down syndrome, for example, is a genetic
condition that affects about 1 in 800 babies, but it affects many more babies
who are born to older women. Second, a woman who is pregnant may miscarry a baby
(fetus) early, before it is time for the baby to be born. This often happens
when the fetus has a severe birth defect. To know the true impact of birth
defects and how often they occur, we not only need to look at babies born but
also, if possible, look at all pregnancies.
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What is my chance of having a baby with a birth
defect?
In the United States, about 3% of babies are born
with birth defects. Some women have a higher chance of having a child with a
birth defect. Women over the age of 35 years have a higher chance of having a
child with Down syndrome than women who are younger. If taken when a woman is
pregnant, certain drugs can increase the chance of birth defects. Also, women
who smoke and use alcohol while pregnant have a higher risk of having a baby
with certain birth defects. Other women have a higher chance of having a baby
with a birth defect because someone in their family had a similar birth defect.
To learn more about your risk of having a baby with a birth defect, you can talk
with a genetic counselor. (To find a genetic counselor, see Where can I find a
geneticist or genetic counselor?) Also, to reduce your chances of having a baby
with a birth defect, talk with your health care provider about any medicines
that you take, do not drink alcohol or smoke, and be sure to take 400 micrograms
of the B vitamin folic acid every day. It is the amount of folic acid found in
most multivitamins.
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Do genetic factors play a role in causing birth
defects?
Yes, some birth defects “run in the family.”
Babies with certain types of birth defects may have an extra or a missing
chromosome. Birth defects can also happen when just a piece of a chromosome is
missing or if just an extra piece is added. Also, certain genes may make a fetus
more sensitive to things that cause birth defects.
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What causes birth defects?
We do not know what causes most birth defects.
Sometimes they just happen and are not caused by anything that the parents did
or didn't do. Many parents feel guilty if they have a child with a birth defect
even if they did everything they could to have a healthy child. If you have a
child with a birth defect, it might be helpful to talk with other parents who
have had a child with the same condition (See How can I get in touch with
parents of a child with the same birth defect as my child?) Sometimes the causes
of birth defects are figured out after the baby is born. Whenever possible, it
is important to know what you can do for a better chance of having a healthy
child in the future. Some actions might increase the chances of having a baby
with a birth defect. The questions and answers that follow talk about some of
these known risks.
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When in pregnancy do birth defects happen?
Birth defects happen before a baby is born.
Inherited or genetic factors; things in the environment, such as smoking or
drinking alcohol or not getting enough folic acid; and a woman’s illness during
pregnancy can cause birth defects. Most birth defects happen in the first 3
months of pregnancy, when the organs of the baby are forming. This is the most
important stage of development. However, some birth defects happen later in
pregnancy. During the last six months of pregnancy, the tissues and organs
continue to grow and develop.
Some birth defects can be found before birth. If
you want to know more about your risk of having a baby with a birth defect,
contact a genetic counselor.
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What kind of health care provider can help find
out what caused my baby’s birth defect?
Birth defects are common in our country. Some
birth defects are found before birth, some at the time of birth, and some are
found during the first year of life. A few don't show up until the child is
older. It is common for parents to want to know what caused their baby’s birth
defect. However, the causes for about 70% birth defects are unknown.
A primary care provider (PCP) usually looks at a
child who may have a birth defect. The PCP is most often the child’s
pediatrician or the family’s general physician. PCPs look for important clues in
the child’s first exam for a birth defect. The first exam includes a lot of
questions about history, a physical exam, and sometimes testing. The PCP is
trying to find a “diagnosis” (name or cause) for the child’s type of birth
defect. If a diagnosis cannot be made after the first exam, the PCP may refer
the child to a specialist in birth defects and genetics. A clinical geneticist
is a doctor with special training to evaluate patients who may have genetic
conditions or birth defects. Even if a child sees a specialist, an exact
diagnosis may not be reached.
Counseling the family of an infant with a birth
defect is a large part of the PCP’s job. PCPs may refer parents to a genetic
counselor to help parents learn more about their infant’s condition. A genetic
counselor explains the diagnosis, the possible role of genes, and medical
aspects of the birth defect. A genetic counselor can talk with parents about
their risk of having future children with a birth defect. He or she also talks
with parents about how to lessen their chances of having another baby with birth
defects. Counseling can help a family adjust to and plan for their newborn.
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Who coordinates the health care of my child who
has a birth defect?
The PCP usually provides the basic care of a
child with a birth defect. The PCP should know about sources of help for the
child and the family. Help may include support groups, public health services,
and current medical literature. The PCP also coordinates the child’s care. For
example, children with birth defects involving their bones may need to see an
orthopedist, a doctor trained in problems with the bones. A child with a birth
defect involving the brain may need to see a neurologist, who is trained to deal
with problems in the brain and nervous system. The PCP may also send the child
for special services that will help the child function better. For example, a
child with a cleft palate may be sent to a speech therapist, someone with
special training who works with people to improve their ability to talk. Another
common referral is for physical therapy to improve the child’s strength and
movement.
Many children with birth defects have more than
one problem and may need one or more specialists. The PCP coordinates the care
of a child with a birth defect so that he gets all the special care he needs.
In summary, birth defects are common, but the
causes for many birth defects are not known at this time. The PCP is generally
the best person to coordinate the special care needed for a child with a birth
defect.
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Where can I get information about my baby's
birth defect or genetic condition?
If your child has a birth defect, you should ask
his or her doctor about local resources and treatment. Geneticists and genetic
counselors are another resource.
CDC can give you general information about neural
tube defects. Many support groups also have brochures and books to help you
learn more about birth defects.
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How can I get in touch with parents of a child
with the same birth defect as my child?
It is helpful for many parents to have contact
with other parents of a child with the same type of birth defect that your child
has. Parents of a child with the same birth defect may have learned how to deal
with some concerns and questions you have. Often, they can give you hints about
good resources for your child’s special needs. They can share what worked best
with their child. Talking with them may provide emotional support and ways to
help you deal better with issues about your child. These resources may be
helpful for you:
- Your child’s health care specialist who
deals with other children with birth defects is one of the best sources for
contact information about support groups. The health care specialist could
be a genetic counselor, a neurologist or neurosurgeon, an orthopedist, a
developmental pediatrician, a physical or occupational therapist, and some
other specialists. Children’s hospitals in your area may sponsor some
groups, too.
- A national organization dealing with your
child’s birth defect, such as Spina Bifida Association of America, that has
a state or local branch, such as Spina Bifida Association of Georgia, may
exist. State or local area March of Dimes offices could also be helpful.
United Way offices may be able to point out resources. Look in the phone
book or on the Web for phone numbers and addresses.
- Internet searches will most likely result in
several Web sites for you to check out. Be careful not to trust all that you
read on the Internet. Some Web sites give good information, but others may
not. Choose Web sites that are associated with well-known national or
regional organizations. There are many Web sites of parents with children
who have birth defects. Some may suggest things that don’t “feel” right to
you. If you have questions or concerns about anything you read on the Web,
be sure to ask your child’s health care specialist about it.
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What is CDC doing to prevent and help find the
causes for birth defects?
CDC does research to try to find the causes of
birth defects. Some people at CDC work in a lab doing basic science research to
find answers. For example, we may study how chemicals in the air or water or
land might harm a developing baby. Others at CDC are “epidemiologists” who look
at all types of birth defects. They try to figure out what babies with certain
birth defects have in common. They might study people’s genes, their use of
certain drugs, or their behaviors. Sometimes parents might be doing something
that could harm a future baby. CDC studies how behaviors, like drinking alcohol
or taking certain drugs, can harm a baby. We then try to explain to people what
they can do, or not do, to try to have a healthy baby. CDC also works closely
with doctors and other health care workers, schools, communities, and the media
to help prevent birth defects.
