Perspectives of couples with high risk of transmitting genetic disorders.
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.


METHODS
Questionnaire study.


METHODS
Patient organizations representing genetic disorders.


METHODS
A total of 210 couples carrying genetic disorders.


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


RESULTS
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.


CONCLUSIONS
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.
Musters
Anna M
AM
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: a.m.musters@amc.nl.
Twisk
Moniek
M
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Leschot
Nico J
NJ
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Oosterwijk
Cor
C
Dutch Genetic Alliance VSOP, Soest, the Netherlands.
Korevaar
Johanna C
JC
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center University of Amsterdam, Amsterdam, the Netherlands.
Repping
Sjoerd
S
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
van der Veen
Fulco
F
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Goddijn
Mariette
M
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
D005191:Family Characteristics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000209:etiology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D057240:Patient Preference / Q000706:statistics & numerical data; D010465:Perception / Q000502:physiology; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000523:psychology / Q000706:statistics & numerical data; D011296:Prenatal Diagnosis / Q000523:psychology / Q000706:statistics & numerical data; D012307:Risk Factors; D011795:Surveys and Questionnaires