What cystic fibrosis is
Cystic fibrosis (CF) is a recessive condition caused by changes in the CFTR gene. It makes mucus thick and sticky, which damages the lungs and digestive system. About 40,000 people in the US live with CF. New medicines called CFTR modulators have transformed care for many people, but it remains a serious, lifelong condition.
What being a carrier means
A carrier has one altered CFTR gene and one working copy. One working copy is enough, so carriers don't have CF and usually have no symptoms. Most find out only through screening, or after having an affected child.
Carrier odds by ancestry
| Ancestry | Chance of being a CF carrier |
|---|---|
| Ashkenazi Jewish | about 1 in 24 |
| White (non-Hispanic) | about 1 in 25 |
| Hispanic | about 1 in 58 |
| Black / African American | about 1 in 61 |
| Asian American | about 1 in 94 |
For two white partners, the chance of a child with CF works out at about 1 in 2,500 per pregnancy. Try your own pairing in the carrier odds calculator.
If both partners are carriers
Each pregnancy has a 1 in 4 chance of CF, a 2 in 4 chance of a carrier child, and a 1 in 4 chance of neither. A genetic counselor explains the options: IVF with embryo testing, testing during pregnancy, or going ahead fully informed.
How CF carrier testing works
A blood or saliva test looks for changes in the CFTR gene. More than 2,000 changes are known, so tests look for the common ones or read the whole gene. Detection is highest in people of white and Ashkenazi Jewish ancestry and lower in others, so a negative result lowers your chance of being a carrier a lot, without making it zero. Expanded carrier screens include CF alongside hundreds of other conditions.
General information, not medical advice.
Sources
- ACOG Committee Opinion 691: Carrier screening for genetic conditions (2017)
- Gregg AR et al. Screening for autosomal recessive and X-linked conditions: ACMG practice resource. Genetics in Medicine (2021)
- Cystic Fibrosis Foundation
- MedlinePlus Genetics: What are the different ways a genetic condition can be inherited?