Attitudes Toward Prenatal Genetic Testing in Patients With Familial Adenomatous Polyposis

Kastrinos, Fay; Stoffel, Elena M.; Balmaña, Judith; Syngal, Sapna
June 2007
American Journal of Gastroenterology;Jun2007, Vol. 102 Issue 6, p1284
Academic Journal
OBJECTIVES: Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with >95% risk of colorectal cancer without prophylactic colectomy. Classic FAP is commonly associated with adenomatous polyposis coli ( APC) gene mutations. If a mutation is identified, prenatal testing can reveal whether an embryo or fetus is affected. We conducted a pilot study to assess FAP patients' attitudes toward prenatal testing. METHODS: Twenty individuals with FAP completed a 40-item survey on personal and family history related to FAP, demographics, and attitudes toward prenatal tests including amniocentesis, chorionic villous sampling (CVS), and preimplantation genetic diagnosis (PGD). RESULTS: Thirteen women and seven men participated. Ninety-five percent (19/20) would consider undergoing prenatal testing for FAP: 90% would consider PGD, 75% would consider amniocentesis or CVS. Having an affected child and experiencing a first-degree relative's (FDR) death secondary to FAP were associated with greater willingness to consider prenatal testing. Personal history of cancer or FAP-associated tumors did not influence the decision to consider prenatal testing. One hundred percent said it was ethical to provide prenatal testing for FAP and four of five subjects who self-reported strong religious backgrounds would consider prenatal testing for FAP. Early reassurance of having an unaffected child was the most important advantage of PGD and avoiding pregnancy termination was important for 64% and 71% of women and men, respectively. CONCLUSIONS: Patients with FAP are willing to consider prenatal testing to prevent transmission of disease to their children. Physicians caring for FAP patients should discuss available prenatal diagnostic options with patients of childbearing age.


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