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"A we increase our ability to screen for more and more genetic diseases, the obstetrician's office becomes the first arena where individuals confront the new dilemmas presented by 21st century science."- Micheal T. Mennuti, MD (ACOG)

Recommendations for CF Testing:

The American College of Obstetricians and Gynecologists (ACOG) as well as the American College of Medical Genetics (ACMG) and the National Human Genome Research Institute (NHGRI) have issued recommendations that CF carrier screening be offered to all couples seeking prenatal or preconception care with appropriate education and follow up.

Cystic Fibrosis genetic testing facts:

• 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
• CF carrier frequency varies with ethnic background.
• West Coast Pathology Laboratories offers the American College of OB/GYN (ACOG) & American College of Medical Genetics (ACMG) recommended standard 25 mutation panel plus four additional mutations for a total of 29 mutations that will identify 89% of CF carriers in the US. Detection rate varies among ethnic groups.

Indications for CF genetic testing:

• 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
• Symptomatic individual
• Newborn screen positive individual
• Fetal echogenic bowel on ultrasound

Identification of symptomatic individuals or carriers allows for:

• Earliest treatment for pulmonary and digestive system issues in affected individuals.
• Prenatal diagnosis for high-risk pregnancies
• Preimplantation genetic diagnosis for preconception carrier couples.
• Precise genetic counseling regarding risks to offspring of having CF.
• Specific carrier testing for other family members.

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