SensiGene Cystic Fibrosis Carrier Screening Test
An Expanded Mutation Panel
The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend cystic fibrosis (CF) carrier screening be offered to Caucasian couples (including Ashkenazi Jews) who are pregnant or considering pregnancy and also be made available to all patients regardless of ethnicity.1 Sequenom CMM now offers SensiGene CYSTIC FIBROSIS Carrier Screening Test with 103 known CF mutations and 5 variants, including the 23 mutations recommended by ACMG. This test is the largest CF carrier screening panel currently available.
Improved Detection Rates
Because of the increasing difficulty in assigning a single ethnicity to an individual, expanded CF panels may provide increased detection rates for specific ethnic groups. Studies estimate that approximately 1 in 17 CF carriers would be missed using the standard CF carrier screen panel (23 mutations).2 Increased detection rates provided by expanded panels, such as SensiGene CYSTIC FIBROSIS Carrier Screening Test, may allow physicians and their patients to make more informed decisions regarding cystic fibrosis.
Carrier Screening for Cystic Fibrosis
According to guidelines from ACOG, preconception screening for CF offers couples the broadest range of reproductive options.1 If CF carrier screening is offered in the prenatal setting, initial CF carrier screening of the pregnant woman may be more cost-effective and practical.1 If she is found to be a carrier, her reproductive partner should be offered CF screening1, and appropriate counseling and discussion of risks and prenatal testing options should be offered.1
Role of Expanded Panels
Indications for cystic fibrosis (CF) carrier screening with an expanded panel such as SensiGene CYSTIC FIBROSIS Carrier Screening Test may include:
- Members of couples who are pregnant or planning a pregnancy
- Individuals with a family history of CF
- Individuals with negative results from smaller mutation panels when individual has family history of CF
- Individuals who have a reproductive partner who is a CF carrier
Genetic Basis of Cystic Fibrosis
Cystic Fibrosis is a multisystem disease, affecting pulmonary, pancreatic, gastrointestinal, biliary and reproductive systems. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. More than 1500 disease-causing mutations in the CFTR gene have been reported in the Cystic Fibrosis Mutation Database.6 Because CF is inherited in an autosomal recessive pattern, pregnancies from a couple in which both partners are CF carriers have 25% likelihood of being affected with CF.
References
- Update on carrier screening for cystic fibrosis. ACOG Committee Opinion No. 325. American College of Obstetricians and Gynecologists. Obstet Gynecol 2005;106:1465-8.
- Heim RA et al. "Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using the expanded, pan-ethnic mutation panel." Genet Med 2001:3(3):168-175.
- Quint A et al. "Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening." Am J Med Genet 2005 Jul 30;136A(3):246-8.
- Palomaki GE et al. "Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians." Genet Med 2002:4(2):90-4.
- Palomaki GE et al. "Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population." Genet Med 2004:6(5):404-14.
- Cystic Fibrosis Mutation Database www3.genet.sickkids.on.ca/cftr/app.
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