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Genetic Testing for Cystic Fibrosis
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Transcript
Genetic Testing for Cystic Fibrosis
N6551 Summer 2023
Catherine Wagner, RN
What is Cystic Fibrosis?
Introduction & Background
- Cystic Fibrosis (CF) is the most common inherited genetic disease of children & young adults
- It is a disorder of mucus production and produces abnormally thick mucus
- This leads to life threatening lung infctions, digestive problems, poor growth, infertility, and more
- Genetic testing prior to pregnancy or in the 1st trimester is highly recommended
Genetic Testing for CF
Importance of Genetic Testing
- Cystic Fibrosis is a genetic disease
- People with CF have inherited 2 copies of the defective CF gene -- one copy from each parent
- Both parents have at least one copy of the defective gene
- People with only 1 copy of the gene are carriers, will not show symptoms, and may not know they are carriers
- Each time 2 carriers have a child, the odds of the child having CF are:
- 25 percent (1 in 4) the child will have CF
- 50 percent (1 in 2) the child will be a carrier but will not have CF
- 25 percent (1 in 4) the child will not be a carrier and will not have CF
Infographic
**CF foundation citation
Benefits of Genetic Testing
- Genetic testing is important if you are pregnant or planning to be pregnant
- The mother receives the genetic test, and if CF comes back positive, it is recommended for the father to also undergo genetic testing to see if he is also a carrier
- If both parents are carriers, early testing for the newborn significantly improves patient outcomes if they have inherited the CF gene from both parents
- You can further test the fetus in utero with chorionic villus sampling or an amniocentesis if both parents are carriers
Genetic Testing
Cystic Fibrosis is a genetic disease
People with CF have inherited 2 copies of the defective CF gene -- one copy from each parent
Both parents have at least one copy of the defective gene
People with only 1 copy of the gene are carriers, will not show symptoms, and may not know they are carriers
Each time 2 carriers have a child, the odds of the child having CF are:
25 percent (1 in 4) the child will have CF
50 percent (1 in 2) the child will be a carrier but will not have CF
25 percent (1 in 4) the child will not be a carrier and will not have CF