Study Highlights

• The detection rate of CF screening by race or ethnicity is as follows:
  • 94% in Ashkenazi Jewish
  • 88% in non-Hispanic white
  • 72% in Hispanic white
  • 64% in African American
  • 49% in Asian American
• Screening should be offered to all patients because it is becoming more difficult to assign a single ethnicity to individuals.
• Negative screening results decrease, but do not eliminate, the risk of being a CF carrier:
  • 1/380 in Ashkenazi Jewish
  • 1/200 in non-Hispanic white
  • 1/200 in Hispanic white
  • 1/170 in African American
  • 1/180 in Asian American
• Preconception carrier screening is most cost effective and is initially conducted in the patient only.
• The following are indications for further testing, genetics consultation, or both:
  • If the patient is a CF carrier, then testing of the partner is indicated.
  • If the patient has been screened previously, then the test does not need to be repeated.
  • If a woman is a CFTR mutation carrier and the partner is unavailable or unknown, then genetic counseling is helpful.
  • If a prenatal diagnosis is being performed for other reasons and CF carrier status is unknown, then CF screening can be done concurrently on both the patient and the partner, with CF testing on chorionic villi or amniocytes if both partners are CF carriers.
  • If both partners are CF carriers, genetic counseling is indicated.
  • If 1 or both partners has a family history of CF, then genetic counseling is indicated for possible CFTR mutation analysis in the affected family member.
  • If the male partner has CF or isolated congenital bilateral absence of the vas deferens, then genetics should be consulted for mutation analysis.
  • If a person has 2 CF mutations, then genetics and specialist consultation is indicated for a mild form of CF.
• CF screening uses a 23-mutation panel, per 2004 guidelines.
• Complete analysis of the CFTR gene by DNA sequencing is not recommended for routine carrier screening but might be indicated after consultation with genetics in the following situations:
  • Patients with CF
  • Patients with a family history of CF
  • Male partners with congenital bilateral absence of the vas deferens
  • Newborns with positive newborn screening results when mutation screening results are negative
• Patients and partners should receive information about CF, testing sensitivity and limitations, and reproductive options in order to decide about CF carrier screening.
• All states include CF screening in the newborn screening panel.
• Newborn CF screening does not replace maternal carrier screening.
• Women with CF should receive information about contraception, preconception consultation, obligate carrier status of their offspring, and the need for testing of partners.
• Women with CF might require a multidisciplinary team to manage pulmonary function, weight gain, infections, and increased risks for diabetes and preterm delivery.