Fertility and Sterility
Volume 94, Issue 4 , Pages 1239-1243, September 2010

Perspectives of couples with high risk of transmitting genetic disorders

Presented as a poster presentation at the 64th Annual Meeting of the ASRM, November 10-12, 2008, San Francisco, California.

  • Anna M. Musters, M.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
    • Corresponding Author InformationReprint requests: Anna M. Musters, M.D., Center for Reproductive Medicine, Department of Obstetrics & Gynecology (H4-205), Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, the Netherlands (FAX: 31-20-6971651).
  • ,
  • Moniek Twisk, M.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
  • ,
  • Nico J. Leschot, M.D., Ph.D.

      Affiliations

    • Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
  • ,
  • Cor Oosterwijk, Ph.D.

      Affiliations

    • Dutch Genetic Alliance VSOP, Soest, the Netherlands
  • ,
  • Johanna C. Korevaar, Ph.D.

      Affiliations

    • Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center University of Amsterdam, Amsterdam, the Netherlands
  • ,
  • Sjoerd Repping, Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
  • ,
  • Fulco van der Veen, M.D., Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
  • ,
  • Mariette Goddijn, Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands

Received 4 May 2009; received in revised form 20 July 2009; accepted 7 August 2009. published online 07 October 2009.

Objective

To investigate the preference for preimplantation genetic diagnosis (PGD) as an alternative to prenatal diagnosis (PND) in a large group of couples representing a wide array of genetic disorders. We also investigated the couple's familiarity with PGD and presented time trade-off scenarios for PGD versus PND, as PGD treatment is regularly accompanied by waiting lists.

Design

Questionnaire study.

Setting

Patient organizations representing genetic disorders.

Patient(s)

A total of 210 couples carrying genetic disorders.

Main Outcome Measure(s)

Preference for PGD or PND and familiarity with PGD in carrier couples.

Result(s)

Fifteen organizations representing 38 genetic disorders agreed to participate. Nine hundred eighty-three couples responded. In total 210 couples were in their reproductive years (women 18–40 years) and had a desire to conceive. Ninety couples (42%) had never heard of PGD. After they were informed, 127 couples (60%) wanted to have diagnostic testing (PND or PGD) performed. Ninety-four (74%) of these couples preferred testing with PGD. When no waiting list was used 102 couples (80%) preferred PGD. With a 2-year waiting list for PGD, 58 couples (46%) would opt for PGD.

Conclusion(s)

Many carrier couples are unaware of the existence of PGD. When informed, most couples prefer PGD more than PND. The preference for PGD decreases with longer waiting lists.

Key Words: Preimplantation genetic diagnosis, prenatal diagnosis, patient preference, genetic disorder/diseases

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 A.M.M. has nothing to disclose. M.T. has nothing to disclose. N.J.L. has nothing to disclose. C.O. has nothing to disclose. J.C.K. has nothing to disclose. S.R. has nothing to disclose. F.v.d.V. has nothing to disclose. M.G. has nothing to disclose.

PII: S0015-0282(09)03488-8

doi:10.1016/j.fertnstert.2009.08.025

Fertility and Sterility
Volume 94, Issue 4 , Pages 1239-1243, September 2010