Skip to Content
Home > Community > Health Library > Cystic Fibrosis Carrier Screening
Cystic fibrosis (CF) is an inherited disease caused by
a change (mutation) in the cystic fibrosis transmembrane regulator (CFTR)
gene. It is a chronic, progressive disease that causes
mucus to become thick and sticky. The mucus builds up
and clogs passages in many of the body's organs, but mostly in the
lungs and the pancreas. In the lungs, the mucus can cause serious breathing
problems and lung disease. In the pancreas, the mucus can cause digestive
problems and malnutrition, which can lead to problems with growth and
Cystic fibrosis (CF) is a
genetic disorder. A child must inherit two defective
CF genes (one defective gene from each parent) to have the disease.
A person who has inherited only one defective CF gene is a
carrier of CF and does not have the
disease but can pass it on to his or her children. This person can also pass on
Cystic fibrosis (CF) carrier
screening is a blood test that determines if you are a carrier of the defective
gene that causes CF. The test can help you determine if you and
your partner have an increased chance of having a child born with CF.
Genetic testing can help
people find out if they may be carriers of cystic fibrosis (CF). This type of genetic testing
allows parents to find out if they have an increased chance of having a child
with CF. Anyone who is interested in knowing his or her carrier status can
request the test, but the test can only be ordered by a doctor.
Genetic counseling to help you understand the meaning
and possible results of the test is recommended prior to genetic
CF carrier screening is recommended for:1
If tests show that you are a
carrier of cystic fibrosis (CF), your partner should also be tested. Both parents must be
carriers of CF for a child to have the disease. If tests show that your partner
is not a carrier of the CF gene, there is a very small chance that you will
have a child with CF.
If you and your partner are both carriers of
CF, there is a 1-in-4 (25%) chance that your child will have CF.
The blood test can detect
whether a person is a carrier of cystic fibrosis (CF) in about 9 out of 10 CF carriers.2 This rate is not the same among all racial and ethnic
groups. There is a small risk that you may be a CF carrier even when the test
results are negative.
The decision to have cystic
fibrosis (CF) carrier screening is a personal one. You may wish to be tested if you
are concerned that you or your partner might be carriers of CF. This may be
more likely if either of you has a family member with the disease.
Some people decide to be tested to help
find out their risks if they choose to have children. Among whites, about 2 to
5 out of 100 are carriers of a defective CF gene.3 CF
is much less common in other racial and ethnic groups.
testing is expensive. Another thing that may guide the decision to have
testing is whether the cost of the test is covered by your insurance
You may decide to have carrier testing for CF if you are
already pregnant. The test results may influence your decision about your
pregnancy or help you make decisions about the care of your newborn
There may be reasons you would
choose not to have cystic fibrosis (CF) carrier testing.
The CFF coordinates, supports, and accredits cystic
fibrosis centers and programs, supports research, and advocates for patients.
You can find information about things like treatment, care centers, clinical
trials, and staying healthy. You can also buy medicines from the online
The Genetic Alliance is an international organization
made up of millions of people with genetic conditions and more than 600
advocacy, research, and health care organizations that represent their
interests. The Alliance builds partnerships to promote healthy lives for all
those living with genetic conditions.
The Genetic Alliance
promotes healthy lives by working to speed the translation of genetic advances
into quality and affordable health care, public awareness, and
consumer-centered public policies.
American College of Obstetricians and Gynecologists
(2005, reaffirmed 2007). Update on carrier screening for cystic fibrosis. ACOG
Committee Opinion No. 325. Obstetrics and Gynecology,
Boat TF, Acton JD (2007). Cystic fibrosis. In RM
Kliegman et al., eds., Nelson Textbook of Pediatrics,
18th ed., pp. 1803–1817. Philadelphia: Saunders Elsevier.
Boucher RC, et al. (2010). Cystic fibrosis. In R Mason et al., eds., Murray and Nadel's Textbook of Respiratory Medicine, 5th ed., vol. 1, pp. 985–1022. Philadelphia: Saunders.
June 15, 2011
John Pope, MD - Pediatrics & Susanna McColley, MD - Pediatric Pulmonology
How this information was developed to help you make better health decisions.
To learn more visit Healthwise.org
© 1995-2013 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.
Send Us Your Questions, Comments or Feedback.
Awards & Certifications
Follow Us Online
©2013 Cone Health ~ Greensboro, NC