Perspectives of couples with high risk of transmitting genetic disorders

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

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

a Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam

b Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam

c Dutch Genetic Alliance VSOP, Soest

d Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

Reprint 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).

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.

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

PII: S0015-0282(09)03488-8

doi:10.1016/j.fertnstert.2009.08.025