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Can Carrier Screening Detect Cystic Fibrosis?

Carrier screening is a genetic test that is able to identify whether you carry genes for specific genetic disorders. Often done before or during pregnancy, carrier screening provides couples with information around their chances of having a child with a genetic disorder.

Who Should Get Tested?

Getting tested in a very personal decision. People who are considered to be “high risk” for CF include Caucasians (1 in 29 Caucasians carry an abnormal cystic fibrosis gene) and those with a relative who has CF, or a relative who is known to be a carrier.

The American College of Obstetricians and Gynecologists (ACOG) recommends that all women be offered genetic carrier testing for genetic mutations that can lead to CF as part of prenatal care, because it’s such a common genetic disorder. If a person carries the trait, their partner will be offered screening as well. A standard genetic screening looks for 23 of the most common mutations that cause CF. However, the exact mutations that are screened for can change according to the race and ethnic group of the person being tested, or if someone in their family carries the disease.

How it Works

In order to inherit cystic fibrosis, a child must inherit one copy of a CFTR (cystic fibrosis transmembrane conductance regulator) gene mutation from each parent. Those who have only one copy of a CFTR gene mutation are called “carriers,” but do not have cystic fibrosis themselves. Genetic testing uses a person’s DNA to tell if the person carries a mutation of the CFTR gene.

If you believe your baby may be at risk for CF, contact your doctor or a genetic counselor for options for genetic carrier screening. Getting screened is important and can help families be aware of their options prior to conceiving.

SOURCES:

https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/

https://www.ncbi.nlm.nih.gov/pubmed/20494257

https://www.ncbi.nlm.nih.gov/pubmed/9566453

https://www.acog.org/Patients/FAQs/Carrier-ScreeningCystic fibrosis

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