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Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment.

Twisk M, Haadsma ML, van der Veen F, Repping S, Mastenbroek S, Heineman MJ, Bossuyt PM, Korevaar JC

Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center, Amsterdam, the Netherlands. M.Twisk@amc.uva.nl

OBJECTIVE: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. DESIGN: Trade-off questionnaires. SETTING: Two university centers for reproductive medicine. PATIENT(S): Two hundred forty-four subfertile women. INTERVENTION(S): Scenarios with different pregnancy chances after PGS and with different risk reductions of a Down syndrome pregnancy were presented. MAIN OUTCOME MEASURE(S): Willingness to have PGS performed in the various scenarios. RESULT(S): In case PGS would discover all Down syndrome embryos without affecting pregnancy chances, 83% of the women would have PGS performed. If PGS lowered pregnancy chances from one in five to one in seven, 36% of the women preferred to have PGS performed. If PGS reduced the chance of a Down syndrome pregnancy with 80% without affecting pregnancy chances, 75% of the women would have PGS performed, and 31% of them would refrain from prenatal testing afterward. CONCLUSION(S): Most women favor PGS for Down syndrome screening, even if it is not 100% sensitive. The acceptability depends on the effect PGS has on pregnancy chances, and, to a lower extent on its sensitivity to detect Down syndrome embryos.

Published 8 October 2007 in Fertil Steril, 88(4): 804-10.
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