Cystic Fibrosis Genetic Risks & Testing

By Laura Medaglia

When it comes to the long list of questions surrounding Cystic Fibrosis, genetic risk factors and testing are always something that people are wondering about. Here we’ll take a look at the common questions about Cystic Fibrosis and genetic factors.

If I have absolutely no family history of Cystic Fibrosis, is there any chance that I could give birth to a baby with CF?

Unfortunately, yes. You or your spouse could be a Cystic Fibrosis genetic carrier without even knowing it. Cystic Fibrosis genetic testing can be done on you and your spouse to determine the likelihood that your baby will be born with Cystic Fibrosis.

If the Cystic Fibrosis genetic risk is found to be high, testing on the unborn baby can be performed at risk to the baby.

Are the risks associated with pre-natal testing serious?

Cystic Fibrosis Genetic Risks and Testing

Yes, absolutely. That’s why Cystic Fibrosis genetic testing is first done on the parents. Generally, fetal testing will only be done if the Cystic Fibrosis genetic risk is very high and it is imperative to know whether or not the child will be born with Cystic Fibrosis.

Choroniac Villus sampling, also known as placenta testing, carries a 1 in 100 risk of fetal death. Amniocentesis, or testing of the fluid surrounding the fetus, carries a 1 in 200 risk of fetal death. Parents-to-be must carefully weigh the possible risks and benefits before moving forward with Cystic Fibrosis genetic testing on an unborn baby.

If my spouse or I have a high Cystic Fibrosis genetic risk, is there anything I can do to decrease the chances of giving birth to a child with Cystic Fibrosis?

People who have a high Cystic Fibrosis genetic predisposition may opt for an in vitro fertilization technique where the embryo is examined for mutated CFTR genes prior to placement in the uterus. If two mutated CFTR genes are found, that embryo will not be implanted in the uterus, and an embryo without Cystic Fibrosis genetic mutations will be.