Cystic Fibrosis Carrier Testing
Cystic fibrosis is an inherited lethal lung disease. Babies born with this condition have problems with digestion and breathing.
Children with cystic fibrosis require daily medication and lung therapy to help them breathe. Although their illness is difficult and progressive, these children have normal IQ’s and can live 20-30 years.
Cystic fibrosis can present with mild to severe symptoms. The extend of a child’s illness cannot be predicted prior to birth.
COULD YOU CARRY THE CYSTIC FIBROSIS GENE?
Some families are already aware that some or all of their members carry a cystic fibrosis gene.
Most couples do not know about their carrier status. A blood test can identify up to 90% of the gene mutations that cause cystic fibrosis.
WHO IS AT RISK FOR CARRYING A CYSTIC FIBROSIS GENE
Although all couples are at risk for carrying a gene for cystic fibrosis, some ethnic groups are more likely to carry one.
- Caucasian, Northern European1 in 29 carries
- Ashkenazi Jew1 in 29
- Hispanic1 in 46
- African1 in 65
- Asian1 in 90
Therefore, the average Caucasian couple have a 1 in 3000 chance of a baby with cystic fibrosis.
- A Hispanic couple have a 1 in 8000 chance.
- An African couple have a 1 in 17,000 chance.
- An Asian couple have a 1 in 32,000 chance.
If the mother does not carry a cystic fibrosis gene then we generally do not test the father.
If you have been tested in the past for cystic fibrosis then you need not test again.
If you are a carrier for CF and now have a new partner for this pregnancy, then he should be tested.
WHAT HAPPENS IF I AM A CARRIER?
If your test reveals that you carry a cystic fibrosis gene then we will offer a test to the father of the baby.
If you both test positive then we will offer you a consultation with a genetic counselor who will help you sort through additional testing options such as an amniocentesis. An amniocentesis will check your baby to see if he or she carries one or two genes for cystic fibrosis.
A baby with two genes will have the symptoms of cystic fibrosis.
Cystic fibrosis testing is optional.
The Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, Maryland 20814