Skip to main content

Advertisement

SpringerLink
Log in

Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome

  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

To examine attitudes toward childbearing and prenatal genetic testing among individuals at risk for Lynch Syndrome (LS), the most common type of hereditary colorectal cancer. Individuals undergoing clinical genetic testing for mismatch repair (MMR) gene mutations completed written questionnaires before and after testing. 161 of 192 (84%) eligible individuals participated in the study. Mean age was 46 years (range 20–75), 71% were female, 53% had a personal diagnosis of cancer, and 68% had children. Eighty percent worried about their children’s risk for developing cancer; however only 9% reported their decision to have children was affected by their family history of cancer. When asked whether providing prenatal testing to carriers of MMR gene mutations was ethical, 66% (86/130) of respondents agreed/strongly agreed, 25% (32) were neutral and 9% (12) disagreed/strongly disagreed. Of 48 individuals planning to have children in the future, 57% (27) intended to have children regardless of their genetic test result. If found to carry a MMR gene mutation that confirmed LS, 42% (20) would consider prenatal testing for a future pregnancy and 20% (7/35) of women would consider having children earlier in order to have prophylactic surgery to reduce their risk for gynecologic cancers. Individuals undergoing genetic testing for LS may utilize test results to make reproductive decisions. Clinicians should be prepared to discuss options of reproductive genetic technologies during counseling of LS patients of childbearing age.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218

    Article  PubMed  CAS  Google Scholar 

  2. Aarnio M, Mecklin JP, Aaltonen LA et al (1995) Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64:430–433

    Article  PubMed  CAS  Google Scholar 

  3. Garber JE, Offit K (2005) Hereditary cancer predisposition syndromes. J Clin Oncol 23:276–292

    Article  PubMed  Google Scholar 

  4. Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932

    Article  PubMed  CAS  Google Scholar 

  5. Jarvinen HJ, Aarnio M, Mustonen H et al (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118:829–834

    Article  PubMed  CAS  Google Scholar 

  6. Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K et al (2009) Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27:4793–4797

    Article  PubMed  Google Scholar 

  7. Lindor NM, Petersen GM, Hadley DW et al (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. Jama 296:1507–1517

    Article  PubMed  CAS  Google Scholar 

  8. Handyside AH, Lesko JG, Tarin JJ et al (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327:905–909

    Article  PubMed  CAS  Google Scholar 

  9. Sermon K, Van Steirteghem A, Liebaers I (2004) Preimplantation genetic diagnosis. Lancet 363:1633–1641

    Article  PubMed  Google Scholar 

  10. Strom CM, Ginsberg N, Rechitsky S et al (1998) Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis. Am J Obstet Gynecol 178:1298–1306

    Article  PubMed  CAS  Google Scholar 

  11. Sermon K, Lissens W, Tarlatzis B et al (1992) Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos. Hum Reprod 7:1278–1280

    PubMed  CAS  Google Scholar 

  12. Rechitsky S, Verlinsky O, Chistokhina A et al (2002) Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online 5:148–155

    Article  PubMed  Google Scholar 

  13. Offit K, Kohut K, Clagett B et al (2006) Cancer genetic testing and assisted reproduction. J Clin Oncol 24:4775–4782

    Article  PubMed  Google Scholar 

  14. Spits C, De Rycke M, Van Ranst N et al (2007) Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 27:447–456

    Article  PubMed  CAS  Google Scholar 

  15. Guran S, Tunca Y (2005) Prenatal diagnosis history of a Li-Fraumeni syndrome family. Cancer Genet Cytogenet 157:191

    Article  PubMed  Google Scholar 

  16. Avigad S, Peleg D, Barel D, Benyaminy H, Ben-Baruch N, Taub E, Shohat M, Goshen Y, Cohen IJ, Yaniv I, Zaizov R (2004) Prenatal diagnosis in Li-Fraumeni syndrome. J Pediatr Hematol Oncol 26:541–545

    Article  PubMed  Google Scholar 

  17. Verlinsky Y, Rechitsky S, Verlinsky O et al (2001) Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online 2:102–105

    Article  PubMed  CAS  Google Scholar 

  18. Ao A, Wells D, Handyside AH et al (1998) Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 15:140–144

    Article  PubMed  CAS  Google Scholar 

  19. Dalton A, Shannon NL, Johnson M et al (1998) Prenatal diagnosis to exclude FAP in a high risk pregnancy. Prenat Diagn 18:756

    Article  PubMed  CAS  Google Scholar 

  20. Davis T, Song B, Cram DS (2006) Preimplantation genetic diagnosis of familial adenomatous polyposis. Reprod Biomed Online 13:707–711

    Article  PubMed  CAS  Google Scholar 

  21. Moutou C, Gardes N, Nicod JC et al (2007) Strategies and outcomes of PGD of familial adenomatous polyposis. Mol Hum Reprod 13:95–101

    Article  PubMed  CAS  Google Scholar 

  22. Huang SM, Tao BL, Tzeng CC, Liu HT, Wang WP (1997) Prenatal molecular diagnosis of RET proto-oncogene mutation in multiple endocrine neoplasia type 2A. J Formos Med Assoc 96:542–544

    PubMed  CAS  Google Scholar 

  23. Wagner TM, Ahner R (1998) Prenatal testing for late-onset diseases such as mutations in the breast cancer gene 1 (BRCA1). Just a choice or a step in the wrong direction? Hum Reprod 13:1125–1126

    Article  PubMed  CAS  Google Scholar 

  24. Jasper MJ, Liebelt LJ, Hussey ND (2008) Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenat Diagn 28:292–298

    Article  PubMed  CAS  Google Scholar 

  25. Braude P (2006) Preimplantation diagnosis for genetic susceptibility. N Engl J Med 355:541–543

    Article  PubMed  CAS  Google Scholar 

  26. London SoM, London. Human Fertilisation and Embryology Authority PGD Conditions Licensed by the HFEA. http://www.hfea.gov.uk/pgd-screening.html. Accessed on January 14 2010

  27. Dommering CJ, Moll AC, Imhof SM et al (2004) Another liveborn after preimplantation genetic diagnosis for retinoblastoma. Am J Ophthalmol 138:1088–1089

    Article  PubMed  Google Scholar 

  28. Girardet A, Hamamah S, Anahory T et al (2003) First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Mol Hum Reprod 9:111–116

    Article  PubMed  CAS  Google Scholar 

  29. Pierro L, Brancato R, Capoferri C (1993) Prenatal detection and early diagnosis of hereditary retinoblastoma in a family. Ophthalmologica 207:106–111

    Article  PubMed  CAS  Google Scholar 

  30. Xu K, Rosenwaks Z, Beaverson K et al (2004) Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn. Am J Ophthalmol 137:18–23

    Article  PubMed  Google Scholar 

  31. Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268

    Article  PubMed  CAS  Google Scholar 

  32. Hadley DW, Jenkins J, Dimond E et al (2003) Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med 163:573–582

    Article  PubMed  Google Scholar 

  33. Markel DS, Young AB, Penney JB (1987) At-risk persons’ attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan. Am J Med Genet 26:295–305

    Article  PubMed  CAS  Google Scholar 

  34. Lerman C, Daly M, Masny A et al (1994) Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol 12:843–850

    PubMed  CAS  Google Scholar 

  35. Croyle RT, Lerman C (1999) Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr 25:59–66

    PubMed  Google Scholar 

  36. Aktan-Collan K, Haukkala A, Mecklin JP et al (2001) Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet 38:787–792

    Article  PubMed  CAS  Google Scholar 

  37. Stoffel EM, Ford B, Mercado RC et al (2008) Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 6:333–338

    Article  PubMed  Google Scholar 

  38. Stoffel EM, Mercado RC, Kohlmann W et al (2010) Prevalence and predictors of appropriate colorectal cancer surveillance in lynch syndrome. Am J Gastroenterol 105(8):1851–1860

    Article  PubMed  Google Scholar 

  39. DiGianni LM, Kim HT, Emmons K et al (2003) Complementary medicine use among women enrolled in a genetic testing program. Cancer Epidemiol Biomarkers Prev 12:321–326

    PubMed  Google Scholar 

  40. Kastrinos F, Stoffel EM, Balmana J et al (2007) Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol 102:1284–1290

    Article  PubMed  Google Scholar 

  41. Digianni LM, Rue M, Emmons K et al (2006) Complementary medicine use before and 1 year following genetic testing for BRCA1/2 mutations. Cancer Epidemiol Biomarkers Prev 15:70–75

    Article  PubMed  Google Scholar 

  42. Fortuny D, Balmana J, Grana B et al (2009) Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort. Hum Reprod 24(1):000–006

    Google Scholar 

  43. American Medical Association (1994) Code of medical ethics. Arch Fam Med 3:633–642

    Article  Google Scholar 

  44. Offit K, Sagi M, Hurley K (2006) Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine. Jama 296:2727–2730

    Article  PubMed  CAS  Google Scholar 

  45. Quinn G, Vadaparampil S, Wilson C et al (2009) Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertil Steril 91:2361–2368

    Article  PubMed  Google Scholar 

  46. Menon U, Harper J, Sharma A et al (2007) Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod 22:1573–1577

    Article  PubMed  CAS  Google Scholar 

  47. Goossens V, Harton G, Moutou C et al (2009) ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod 24:1786–1810

    Article  PubMed  CAS  Google Scholar 

  48. Clancy T (2010) A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions. Fam Cancer 9:9–14

    Article  PubMed  Google Scholar 

  49. Lancaster JM, Wiseman RW, Berchuck A (1996) An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast-ovarian cancer susceptibility gene. Obstet Gynecol 87:306–309

    Article  PubMed  CAS  Google Scholar 

  50. Kalfoglou AL, Doksum T, Bernhardt B et al (2005) Opinions about new reproductive genetic technologies: hopes and fears for our genetic future. Fertil Steril 83:1612–1621

    Article  PubMed  Google Scholar 

  51. (2004) Preimplantation genetic diagnosis—for or against humanity? Lancet 364:1729–1730

  52. Douma KF, Aaronson NK, Vasen HF et al (2010) Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. Eur J Hum Genet 18:186–193

    Article  PubMed  Google Scholar 

  53. Crockin SL (2005) Reproduction, genetics and the law. Reprod Biomed Online 10:692–704

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

The authors would like to thank Bridget Neville, MS, for her assistance with statistical programming. The authors acknowledge the following sources of grant support: National Cancer Institute K07 CA 120448-04 (Dr. Stoffel), American Recovery and Reinvestment Act 3K07CA120448-03S1 (Dr. Stoffel), American College of Gastroenterology Junior Faculty Award (2004—Dr. Stoffel), National Cancer Institute K24 CA 113433 (Dr. Syngal).

Conflicts of interest

The authors have no conflicts to disclose.

Author information

Authors and Affiliations

  1. Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA, USA

    Akriti Dewanwala, Anu Chittenden, Margery Rosenblatt, Rowena Mercado, Judy E. Garber, Sapna Syngal & Elena M. Stoffel

  2. Department of Adult Oncology, Dana-Farber Cancer Institute, Boston, MA, USA

    Judy E. Garber

  3. Harvard Medical School, Boston, MA, USA

    Judy E. Garber, Sapna Syngal & Elena M. Stoffel

  4. Division of Gastroenterology, Brigham and Women’s Hospital, 75 Francis St, Boston, MA, 02115, USA

    Sapna Syngal & Elena M. Stoffel

Authors
  1. Akriti Dewanwala
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anu Chittenden
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Margery Rosenblatt
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rowena Mercado
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Judy E. Garber
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sapna Syngal
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Elena M. Stoffel
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Elena M. Stoffel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dewanwala, A., Chittenden, A., Rosenblatt, M. et al. Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome. Familial Cancer 10, 549–556 (2011). https://doi.org/10.1007/s10689-011-9448-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-011-9448-8

Keywords

Search

Navigation