Know Your Risk: Genetic Testing for CF

Know Your Risk: Genetic Testing for CF

by | July 15th, 2014

genetic testing for cf and sickle cellYou’ve found your perfect match and want to get pregnant and start a family.

A blood test offered by your fertility specialist can help determine whether your genes are a perfect match, too.

More than 10 million Americans (1 in 31) are unsuspecting carriers of a devastating genetic disease called cystic fibrosis. Two people carrying the gene can pass CF to their children. Until they have a baby with CF, many parents were not even aware of the risk.

When two partners, each with the recessive CF mutation, have a child, here’s what to expect:

  • 25% chance that the child will have the active disease (inheriting the CF gene from both mom and dad)
  • 50% chance that the child will inherit a single gene (from mom OR dad), but not develop the active disease
  • 25% chance that the child will not receive the defective gene at all

Protecting Babies from CF

CF is usually diagnosed at an early age (75% before the age of 2) because babies have trouble gaining weight, frequent respiratory infections, greasy stools and skin that tastes salty. The disease primarily affects the lungs and pancreas, and there is no cure.

Tulsa Fertility Center offers proactive genetic testing, also called preconception testing, to couples well before they get pregnant. You can find out if you have an autosomal recessive disorder like CF, and take action to prevent your baby from having the active disease.

Genetic Testing Alerts You to Your CF Carrier Status

DNA mapping enables scientists to FISH (fluorescence in situ hybridization)along a strand of DNA for mutations in the genes. Fluorescent markers attach to the mutated genes, signaling a problem and where it occurs.

Genes give the body’s cells instructions. The CF gene, CFTR, produces a protein that controls the flow of salt and water in and out of cells.

CF is just one of the life-threatening single gene disorders we test for at Tulsa Fertility Center and our partner IVF lab. Even if you are not experiencing infertility, you may contact us to arrange for preconception testing. Read more here about the genetic testing panel that we use, and red flags that alert us to the need for testing

 

 

| Category: cystic fibrosis, genetic testing, sickle cell anemia |

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