• A 31-year-old Caucasian female at 11 weeks gestation requires her primary-care provider for prenatal care cystic fibrosis (CF) carrier screening.
  • The screening reveals that she carries the common delta F508 CF mutation.
  • After genetic counselling, the patient’s partner is tested and is found to carry a different CF mutation.
  • The carriership does not affect their individual health, but determines a risk for siblings.
  • Any of the parents has 50% chance to transmit the mutation, and overall, the couple has 25% chance of having a child affected with cystic fibrosis.
  • The couple is therefore offered genetic counselling and amniocentesis for prenatal diagnosis.

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