Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Cystic fibrosis


Other Names for this Disease

  • CF
  • Mucoviscidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Where can I get information on cystic fibrosis carrier screening and the official recommendations for pregnant women?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Where can I get information on cystic fibrosis carrier screening?

The Genetic Testing Registry (GTR) provides a list of laboratories performing carrier testing for cystic fibrosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

You can find information on cystic fibrosis carrier screening from the Cystic Fibrosis Foundation at the following link: http://www.cff.org/AboutCF/Testing/GeneticCarrierTest/

If you or your partner are interested in carrier screening for cystic fibrosis, you might consider speaking with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:  
Last updated: 3/14/2014

Where can I get information on the official recommendations for cystic fibrosis carrier screening?

Recommendations and guidelines for genetic carrier screening may differ among organizations; additionally, they are often updated over time as we learn more about the genetic basis of disease and the effects of genetic screening. Information subject to change may include the populations for which screening is recommended, and the type or extent of screening recommended for individuals or populations.

In 2001, the American College of Obstetricians and Gynecologists (ACOG) began recommending that ob-gyns make DNA carrier screening for cystic fibrosis (CF) available to all couples seeking preconception or prenatal care — not just those with a personal or family history of carrying a CF gene mutation, as previously recommended. To read more about ACOG’s CF carrier screening guidelines, click here.

The American College of Medical Genetics (ACMG) also has an article discussing how over the years the number of mutations that are looked for in CF carrier screening has increased to better identify carriers. To read more about this, click here.

Individuals seeking information about specific screening recommendations for themselves or family members should speak with a genetics professional.
Last updated: 6/22/2012
Other Names for this Disease
  • CF
  • Mucoviscidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.