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Table 17. Summary of Studies Evaluating Attitudes Toward, Interest in, or Intention to Use Assisted Reproductive Technology (ART) for FAPa, LSb, and PJSa

Study Population  Nc Interest or Intention in ART  Comments 
FAP-affected individuals [25]2095% would consider prenatal GT for FAP; 90% would consider PGD; 75% would consider amniocentesis or chorionic villous sampling
FAP-affected individuals [18]34133% would consider PND for FAP; 30% would consider PGD; 15% felt terminating pregnancy for FAP was acceptable24% and 25% of patients did not respond to questions about attitudes toward PND and PGD, respectively.
Individuals undergoing genetic testing for LS [27]48d21% would consider PND and/or PGD; 19% would consider only PND; 2% would consider only PGDAt 1 year after disclosure of GT results, two of nine mutation carriers reported that they were considering PGD for future pregnancy.
PJS-affected individualsa [28]5215% indicated that pregnancy termination was acceptable if PND identified a fetus with PJS; 52% indicated PGD was acceptable for persons with PJSTen (19%) individuals, nine of whom were female, reported that they had decided not to conceive a child because of PJS.

FAP = familial adenomatous polyposis; GT = genetic testing; LS = Lynch syndrome; PGD = preimplantation genetic diagnosis; PJS = Peutz-Jeghers syndrome; PND = prenatal diagnosis.
aStudies used a cross-sectional design and were conducted in the United States,[25] and in the Netherlands.[18,28].
bParticipants were invited to complete questionnaires before clinical genetic testing for LS and at 3 months and 1 year after disclosure of genetic test results.
cIndicates number of participants older than 18 y, unless otherwise specified.
dRepresents the number who indicated that they were considering having children in the future, out of a total of 130 individuals who answered a questionnaire before genetic testing.[27]


  1. Douma KF, Aaronson NK, Vasen HF, et al.: Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. Eur J Hum Genet 18 (2): 186-93, 2010.  [PUBMED Abstract]

  2. Kastrinos F, Stoffel EM, Balmaña J, et al.: Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol 102 (6): 1284-90, 2007.  [PUBMED Abstract]

  3. Dewanwala A, Chittenden A, Rosenblatt M, et al.: Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Fam Cancer 10 (3): 549-56, 2011.  [PUBMED Abstract]

  4. van Lier MG, Korsse SE, Mathus-Vliegen EM, et al.: Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis. Eur J Hum Genet 20 (2): 236-9, 2012.  [PUBMED Abstract]