Single-Gene Screeing

Dedicated genetic testing
for cystic fibrosis

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Screening for Cystic Fibrosis

In addition to a comprehensive screening for more than 500 genetic disorders (Inheritest®), we also offer screening for specific disorders, such as cystic fibrosis (CF).

Why focus on CF screening?

The purpose of CF carrier screening is to determine if a couple is at increased risk for having a child with CF, a genetic disorder that causes the body to produce abnormally thick mucus, leading to life-threatening lung infections, digestion problems, diarrhea, poor growth and male infertility.

CF can occur in any ethnic background. If there is no one in your family with CF, your risk of being a carrier for CF is determined by your ethnic background (see table below). If a relative of yours has CF, or is known to be a carrier of CF, your chance of being a carrier is increased.

EthnicityCF carrier risk in people with no family history of CF*
Caucasian1 in 25
Ashkenazi Jewish1 in 24
Hispanic1 in 58
African American1 in 61
Asian1 in 94

The screening test requires a blood sample or mouthwash and results are typically ready within 5 to 8 days of the sample arriving at the laboratory. If a couple has not yet conceived or is early in pregnancy, one partner is usually tested first. Some couples choose to be tested at the same time--especially when the woman is further along in pregnancy (beyond the first trimester).

If both parents are carriers of an altered CF gene, there is a 25% (or 1 in 4) chance their child will be affected with CF.

Learn more about how inherited disorders like CF are passed on.

Additional Resources

References:

  1. Update on Carrier Screening for Cystic Fibrosis. ACOG Committee Opinion No. 486. Obstet Gynecol. 2011 Apr;117(4):1028-31.