About Birth Defects
defect is a problem that occurs when a baby is developing in utero (in the
womb). Approximately 1 out of every 33 babies in the United States is born
with a birth defect.
defects can be minor or severe. They may affect appearance, organ function, or physical
or mental development. Most birth defects are present within the first three
months of pregnancy, when the organs are still forming. Some birth defects are
harmless, while others require long-term medical treatment. Severe birth
defects are the leading cause of infant death in the United States, accounting
for 20 percent of deaths.
What Causes Birth Defects?
defects can be a result of genetics, lifestyle choices and behaviors, exposure
to certain medicines and chemicals, infections during pregnancy, or a
combination of these factors. However, the exact causes of certain birth
defects are often unknown.
or father may pass on genetic abnormalities to their baby. Genetic
abnormalities occur when a gene becomes flawed due to a mutation (change). In
some cases, a gene or part of a gene might be missing. These defects happen at
conception (fertilization) and often can’t be prevented. A particular defect
may be present throughout the family history of one or both parents.
of some birth defects can often be difficult or impossible to identify. However,
certain behaviors greatly increase the risk of birth defects. These include
smoking, using illegal drugs, and drinking alcohol while pregnant. Other
factors, such as exposure to toxic chemicals or viruses, also increase risk.
What Are the Risk Factors
for Birth Defects?
women have some risk of delivering a child with a birth defect. Risk increases
under any of the following conditions:
history of birth defects or other genetic disorders
use, alcohol consumption, or smoking during pregnancy
maternal age of 35 years or older
viral or bacterial infections, including sexually transmitted infections
of certain high-risk medications such as isotretinoin and lithium
pre-existing medical conditions, such as diabetes, are also at a higher risk for
having a child with a birth defect.
Common Birth Defects
There are more than 4,000 types of known birth defects. They’re
typically classified as structural or functional/developmental. Structural
defects are when a specific body part is missing or malformed. The most common
structural defects are:
- cleft lip or palate (when there’s an opening or
split in the lip or roof of the mouth)
bifida (when the spinal cord doesn’t develop properly)
- clubfoot (when the foot points inward instead of
or developmental birth defects cause a body part or system to not work
properly. These often cause disabilities of intelligence or development.
Functional or developmental birth defects include metabolic defects, sensory
problems, and nervous system problems. Metabolic defects cause problems with
the baby’s body chemistry.
common types of functional or developmental birth defects include:
children experience physical problems associated with specific birth defects. However,
many children show no visible abnormalities. Defects can sometimes go
undetected for months or even years after the child is born.
How Are Birth Defects Diagnosed?
Many birth defects
can be diagnosed during pregnancy, depending on the particular type of birth
defect. Prenatal ultrasounds can be used to diagnose certain birth defects in
utero. More in-depth screening options, such as blood tests and amniocentesis
(taking a sample of the amniotic fluid), may also be done. These tests are
usually offered to women who have higher risk pregnancies due to family
history, advanced maternal age, or other known factors.
tests can help determine whether the mother has an infection or other condition
that’s harmful to the baby. A physical examination and hearing test may also be
used to diagnose birth defects after the baby is born. A blood test called the
newborn screen can help diagnose some birth defects shortly after birth, before
important to know that prenatal screening doesn’t always find defects when
they’re present. A screening test can also falsely identify defects. Most birth
defects can be diagnosed with certainty after birth.
How Are Birth Defects Treated?
options vary depending on the condition and level of severity. Some birth
defects can be corrected before or shortly after birth. Other defects, however,
may affect a child for the rest of their life. Severe birth defects, such as
cerebral palsy or spina bifida, can cause long-term disability or death. Mild
defects can be stressful, but they don’t typically affect overall quality of
life. Speak with your doctor about the appropriate treatment for your child’s
may be used to treat some birth defects or to lower the risk of complications
from certain defects. In some cases, medication may be prescribed to the mother
to help correct an abnormality before birth.
be done to fix certain defects or ease harmful symptoms. Some people with
physical birth defects, such as cleft lip, may undergo plastic surgery for
either health or cosmetic benefits. Many babies with heart defects will need
be instructed to follow specific instructions for feeding, bathing, and
monitoring an infant with a birth defect.
How Can Birth Defects Be
defects can’t be prevented, but there are some ways to lower the risk of having
a baby with a birth defect. Women who plan on becoming pregnant should start
taking folic acid supplements before conception. These supplements should also
be taken throughout the pregnancy. Folic acid can help prevent defects of the
spine and brain. Prenatal vitamins are also recommended during pregnancy.
avoid alcohol, drugs, and tobacco during and after pregnancy. They should also
use caution when taking certain medications and getting vaccinated. Some
medications and vaccines that are normally safe can cause serious birth defects
when taken by pregnant women. Make sure to tell your doctor about any
medications (including over-the-counter drugs and supplements) you may be
taking. You should also ask them which vaccines are necessary and safe.
a healthy weight also helps reduce the risk of complications during pregnancy. Women
with pre-existing conditions, such as diabetes, should take special care to
manage their health.
extremely important to attend regular prenatal appointments. Additional
prenatal screening can be done to identify defects if your pregnancy is
considered high risk. Depending on the type of defect, it may be able to be
treated before the baby is born.
counselor can advise couples with family histories of or other risks factors for
birth defects. A counselor may be helpful when you’re thinking about having children
or already expecting. Genetic counselors can determine the likelihood that your
baby will be born with defects by evaluating family history and medical
records. They may also order tests to analyze the genes of the mother, father,