National Cystic Fibrosis Awareness Month
May was National Cystic Fibrosis Awareness Month. Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs. Mutations in the “cystic fibrosis transmembrane conductance regulator” (CFTR) gene cause individuals with CF to produce thick, sticky mucus that can clog their lungs, making breathing difficult. This abnormally sticky mucus also traps bacteria which can cause chronic lung infections. New treatments have greatly extended the life expectancy of people with CF. In the 1950s, the average age of survival in the US was just six months. While there is still no cure, the average survival age is now 40 years.
There are 30,000 people living with CF in the US. CF occurs when two mutated copies of the CFTR gene are inherited, one from each parent. One in every 29 Caucasian-Americans has one mutated copy of the CTFR gene and one normal copy. These people are called CF carriers. CF carriers do not have the disease, and without screening, they may not know they are carriers.
If two CF carriers have a baby together, there is a:
25% chance their child with have CF
50% chance their child will be a CF carrier
25% chance their child will not have CF or be a CF carrier
Carrier screening is a valuable tool for family planning. The American College of Obstetricians and Gynecologists recommends that all patients who are considering pregnancy or already pregnant should be offered carrier screening for CF [http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Carrier-Screening-in-the-Age-of-Genomic-Medicine].
To learn more about Carrier Screening visit www.babygenes.net/carrier-screening/
To learn more about CF visit www.cff.org