Carrier of Cystic Fibrosis: Symptoms, Genetics, Diagnostic Tests, and Prevalence Rates

Carrier of Cystic Fibrosis: Symptoms, Genes, Tests, and Prevalence Rates

In the United States, cystic fibrosis (CF) carrier status varies significantly among different ethnic groups, with non-Hispanic whites having the highest carrier frequency. According to recent studies, about 1 in 25 (4%) non-Hispanic white individuals are carriers of a CF mutation [4].

The carrier frequency for CF is lower but still present among other ethnic groups, including Ashkenazi Jews, Hispanics, South Asians, Middle Easterners, Southeast Asians, Native Americans, and Pacific Islanders. Expanded carrier screening, which includes multiple genes and variants, has been found to uncover a larger proportion of carriers across nearly all ethnic groups compared to ethnicity-based screening alone [1].

| Ethnicity/Group | CF Carrier Frequency (Approx.) | |-------------------------|-----------------------------------------| | Non-Hispanic White | About 1 in 25 (4%)[4] | | Ashkenazi Jewish | Higher carrier rates identified in panels including 18 specific genes[1]| | Hispanic, South Asian, Middle Eastern | Lower than non-Hispanic whites but significant variations exist; expanded carrier screening can identify more carriers than ethnicity-based testing[1]| | Southeast Asian, Native American | Carrier frequency generally lower; expanded screening finds additional carriers only in some cases[1]| | Pacific Islander | Little to no change in carrier identification across screening panels[1]|

It's crucial to note that a positive CF carrier test result means that the individual is almost definitely a carrier of the CF gene. However, a negative result does not guarantee that the individual will not have a child with CF. A CF carrier has one copy of the gene for the condition.

If a person with CF has a child with a CF carrier, the child will either have CF or be a carrier of the disease. CF carriers do not experience any symptoms. If both parents are CF carriers, their children have a 25% chance of having CF, a 50% chance of being a carrier, and a 25% chance of not having CF and not being a carrier.

Prenatal testing can identify whether a child has CF, but it cannot predict the severity of the symptoms. If parents have a child with CF or a child who is a CF carrier, all of their other children should undergo a screening test. The American College of Obstetricians and Gynecologists recommend that doctors offer carrier screening to any woman who is pregnant or considering becoming pregnant.

Before pregnancy, doctors often offer a simple blood test to the woman who wants to become pregnant for CF carrier screening. During pregnancy, a doctor may test both partners together due to time constraints. People who have a family history of CF may wish to get a CF carrier test before starting a family.

The cost of genetic testing can vary greatly, depending on the type and number of conditions the individual wishes to check for. People need to have two copies of the gene to have cystic fibrosis. The symptoms of CF vary in type and severity due to over 1,700 identified mutations that can cause CF. If both parents are CF carriers, they may wish to consider prenatal testing to determine whether the fetus has inherited two copies of the defective gene.

Chorionic villus sampling (CVS) is a prenatal CF test that can be done between weeks 10 and 13 of pregnancy, while amniocentesis, another prenatal CF test, can be done between weeks 15 and 20 of pregnancy. This information is essential for genetic counseling and planning, as couples who both carry CF mutations have a 25% chance of having a child with CF due to autosomal recessive inheritance [3].

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