Cystic fibrosis is a common autosomal recessive genetic condition with a frequency in the United States of 1 in 3300. 85% of CF affected patients accumulate thick mucus in their lungs and pancreas causing difficulties with breathing and digestion, while 15% experience only lung problems. Milder conditions also associated with CF include male infertility (due to the congenital absence of vas deferens) and pancreatitis. Indications for CF genetic testing include:

  • Pregnant woman
  • Reproductive partner of a known CF carrier
  • Preconception couple, sperm or egg donor
  • Prenatal diagnosis for CF carrier couple or couple with a previously-affected child
  • Male with congenital absence of the vas deferens (DBAVD) and his partner
  • Individual with a family history of CF, or symptomatic individual
  • Fetal echogenic bowel on ultrasound