Genetic Counseling Association Case Analysis Paper

Genetic Counseling Consult Questions:
1) Every person inherits 2 transmembrane conductance regulator (CFTR) genes, one from each parent. A mutation in the CFTR gene causes cystic fibrosis (CF). People who inherit one normal CFTR gene and one mutated CFTR gene are considered “carriers of CF”, meaning that they do not have CF but can pass it on to their children. For a child to be born with CF, both of their parents must be “carriers of CF” and that child must inherit a mutated CFTR gene from each parent.
If both parents are “carriers of CF” then there is a 1 in 4, or 25% likelihood their child will be born with CF.

2) If both parents are “carriers of CF” then there is a 1 in 2, or 50% likelihood that their children will be “carriers of CF”.

4) Upon doing research for this case study on cystic fibrosis I found many informative websites with an abundance of information. The two sites I found with the most information about genetics, symptoms, diagnosis, treatment and prognosis were www.cff.org and https://cysticfibrosisnewstoday.com/.

5) Cystic Fibrosis (CF) is an inherited disease that affects the exocrine glands which are responsible for the production of sweat and mucus.
a. The cystic fibrosis decision was based upon genetic testing of both parents revealing that they were both “carriers of CF”, and a recent positive sweat test done on the patient that confirmed the concentration of