Download Cystic Fibrosis Testing - Gundersen Health System

Cystic Fibrosis (CF) Carrier Test
If you are pregnant or planning to get
pregnant, you should know about cystic
fibrosis (CF) and CF carrier testing. This
genetic disease affects about 1 in 3,300 people
in our country. It makes the lungs produce
very thick mucus, which leads to breathing
problems and severe infections. It causes
stomach and bowel problems, poor growth
and male infertility. Symptoms range from
mild to severe. Those who have mild CF may
grow to be adults without knowing they have
the disease. The average life span for people
with CF is 38 years.
A blood test can show which of these is true:
• You are a CF carrier
• Your chances of being a CF carrier are low
Lab results are back in 5 to 10 days. If a
couple has not yet conceived, it is common to
test one partner first. If that person carries a
CF mutation, the other partner should also be
tested. If a woman is pregnant, both partners
may be tested at the same time.
Knowing ahead of time that chances are
higher of your baby being born with CF helps
you prepare. This can be a very serious
disease. Your child will require a high level
of expert health care for his or her entire life.
There is no cure for CF.
How is CF inherited?
A baby will have CF only if it has two copies
of abnormal CF genes. If both parents carry
an abnormal CF gene, there is a chance that
each parent will pass on the abnormal gene.
03/07/2013
PE 001096
These are the chances that a baby might have
CF each time you are pregnant:
• 25% (1 chance out of 4) – The child
receives two normal CF genes. The child
will not have the disease or carry the gene.
• 50% (2 chances out of 4) - The child
receives one normal and one abnormal CF
gene. The child will carry the gene and can
pass it on to his or her children in the future.
• 25% (1 chance out of 4) – The child
receives two abnormal CF genes, one from
each parent. The child will have cystic
fibrosis.
If both parents carry an abnormal CF gene,
this means:
• Each child has a 25% chance of having the
disease.
• Each child has a 75% chance of not having
the disease.
Chances are the same each time you are
pregnant. It does not matter how many
children you have. The risk is the same for
boys and girls.
What is a CF carrier?
Every person has two copies of a gene, one
inherited from each parent. If a person has one
normal CF gene and one abnormal CF gene,
that person is a CF carrier. Having only one
abnormal copy of the CF gene is not enough
to cause the disease. A CF carrier will not
have CF symptoms.
Patient Education
continued...
Page 1 of 2
Cystic Fibrosis (CF) Carrier Test
Can any person be a CF carrier?
Yes. If someone in your family has CF, then
your chance of being a CF carrier is increased.
The chance is even greater if the person with
CF is closely related to you. If no one in your
family has CF, the level of risk for being a CF
carrier is based on your ethnic background.
CF is more common among people of
Caucasian (white) and Ashkenazi Jewish
descent. The disease is less common among
those of Hispanic, African American, Native
American or Asian descent.
Ethnic group
Caucasian
Ashkenazi Jewish
Hispanic
African American
Asian
CF carrier risk in
those with no family
history of CF
1 in 25
1 in 26
1 in 46
The test shows whether you carry one of the
more common CF gene mutations. A negative
result lowers but does not wipe out all risk
that you carry the CF gene. The test does not
detect very rare changes in the CF gene.
Are more tests needed if
both parents carry the gene?
Two other tests can be done before birth.
These tests show if the baby has received the
CF gene from one or both parents:
• Chorionic villus sampling
(kor-ee-ON-ik / VIL-us)
• Amniocentesis (am-nee-oh-cen-TEE-sis)
If you choose not to have yourselves tested,
you can have your baby tested after birth. All
babies born in Wisconsin have testing for CF
as part of Newborn Screening.
Can I find out more about this test?
1 in 65
1 in 90
Is CF testing required?
What do the results mean?
It is not required. The American College of
Obstetricians and Gynecologists recommends
the test be offered to all pregnant women. You
and your partner each must decide if you want
to be tested.
Your doctor or midwife can refer you to our
genetic counselor to learn more. You can call
(608) 775-2599 or (800) 362-9567, ext. 52599
to set up a visit. You can also ask questions by
phone at (608) 775-2771 or (800) 362-9567,
ext. 52771.
For help finding answers to your questions,
ask any Gundersen Health System librarian.
• Call: (608) 775-5995 or (800) 362-9567,
ext. 55995
• E-mail: [email protected]
• In person: La Crosse and Onalaska campuses
and East Building
Permission to adapt this information for patient education was granted by Genzyme Corporation.
It is from a brochure published in 2005.
Copyright 2013 – Gundersen Health System Patient Education. This content supports the care you receive from your health care team. It does not replace
medical care or advice. Talk to your doctor or others on your health care team before you start any new treatment.
PE 001096
Patient Education
Page 2 of 2