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GENETIC TESTING
“Should I Have Genetic Testing?”
Some diseases and birth defects are inherited, or
passed from parents to their baby through genes.
These are called genetic disorders. Doctors use
genetic screening to find out if a couple is in a highrisk group for having a baby with a hereditary genetic
disorder. If you and your partner are at risk of passing
on a genetic disorder, genetic testing can confirm or
rule out a problem.
Knowing ahead of time if your baby has a genetic
condition can help doctors give your newborn the best
care possible.
A gene that does not function properly can cause birth
defects and genetic disorders. The gene is then said to be
altered or changed. More than 4,000 birth defects have
been identified and occur in 1 out of every 28 births. For
example, Down syndrome is a genetic disorder. Individuals with Down syndrome have varying degrees of
mental retardation and physical problems.
“What is so important about knowing if
the baby has a genetic condition?”
“There are no genetic conditions in our
families. Why should I worry?”
Counselors can help explain medical information
about an inherited condition or birth defect and
how the disorder affects babies born with it. Counselors will discuss the risk of your baby having a
problem, explain the testing that is available, and
answer your questions. Their goal is to help you
understand the information to better manage the
problems in a way that is best for you and your
family.
Sometimes parents feel their baby is not at risk, but
genetic disorders can occur even when there have been
no problems in the family. This happens when both
parents pass along the same altered gene.
“What are genes?”
Genes are the “recipes” that control traits like eye and
hair color. The 46 human chromosomes contain
genes which provide the instructions that help us
develop and grow correctly. Because we have two
copies of every chromosome, we have two copies of
each gene.
A baby gets
half of his
or her
genes from
the mother
and half
from the
father.
Cystic fibrosis, a disease that most commonly affects
breathing and digestion, is an example. If both parents
are carriers of this gene, there is a 1 in 4 chance for the
baby to develop cystic fibrosis. There is no cure for cystic
fibrosis. You could carry cystic fibrosis with no family
history and even if you have other healthy children.
Testing for you and your partner is available to determine if you are carriers for cystic fibrosis and if your
baby is at risk of getting the disease.
Muscular dystrophy is another disease that is inherited.
Sons can inherit this disease from healthy mothers who
carry the gene. The altered gene causes a change in the
making of muscle tissue. Muscles deteriorate and
become weak. Problems with walking and breathing
complications occur.
Babies with certain birth defects need to be delivered
in a hospital where specialists are ready to help.
The baby may need specialized care immediately
after birth.
“When can I have genetic testing?”
A test called a “Triple Screen” or “Multiple Marker
Screen” is available during pregnancy and can
identify pregnancies at risk for certain genetic
disorders. The triple screen test measures your blood
for three different substances. These measurements
plus your age, weight, and the gestational age of
your baby are used to predict a risk for Down
syndrome, spina bifida (neural tube defect), or
trisomy 18. A neural tube defect results when the
spinal cord fails to close somewhere along its
ASK YOUR DOCTOR
length. Bone and skin do not form over that section
of the nervous system which leaves the tissue
covered only by a thin membrane. Neural tube
defects range in severity and can involve the brain
or any part of the spinal cord.
Genetic
Testing
Some genetic testing can be done before pregnancy
to determine carrier status of high-risk couples.
During early pregnancy a triple screen or ultrasound may be done to check for possible problems.
If these tests show a problem, your doctor will
recommend further testing. The tests are not perfect.
Even with testing, your baby could have a genetic
disorder or birth defect that doesn’t show up on tests.
“I’m interested. Now what?”
Ask your doctor about testing that is available,
including the triple screen, testing for sickle cell
disease, and the cystic fibrosis carrier screen. It is
also important to tell your doctor about your
family’s medical history, such as an older child with
an inherited disorder, birth defect, or mental
retardation; your own medication history; or other
problems with diseases or disorders in your family.
Talk to your doctor about taking folic acid and how
much of this vitamin you need. This can reduce
your risk of neural tube defects if you take it before
you become pregnant and early in your pregnancy.
ANTENATAL & NEONATAL GUIDELINES, EDUCATION
AND LEARNING SYSTEM
4301 West Markham, #518 • Little Rock, AR 72205
Phone 501/526-7425 • Toll Free 1-866-273-3835
www.uams.edu/angels
ANGELS “Ask Your Doctor” No. 3
© 2004 UAMS