Abstract

This study aims to report the willingness of different populations of high-risk couples to undergo preimplantation genetic diagnosis (PGD) for beta-thalassaemia as an alternative to prenatal genetic diagnosis (PND), and the willingness of infertile couples to undergo PGD for aneuploidies. An information sheet and questionnaire presenting PGD and PND procedures were distributed to four population types: 54 high-risk couples for beta-thalassaemia coming for their first PND (population A); 51 similar couples coming for their second or further PND without previous experience of therapeutic abortion (population B-na); 50 similar couples coming for their second or further PND with previous experience of therapeutic abortion for beta-thalassaemia-affected fetus (population B-ab); and 74 infertile couples undergoing routine in-vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) (population C). Favourable first impressions towards PGD compared with PND were observed in all four populations in the following proportions: 79.6% population A; 76.5% population B-na; 92.0% population B-ab; and 96.0% population C. Willingness to undergo PGD for beta-thalassaemia was as follows: 44.4% population A; 47.1% population B-na; and 72.0% population B-ab. We conclude that previous experience of PND for beta-thalassaemia is a crucial point in the willingness to accept the PGD procedure, and that couples belonging to population B-ab are the most suitable to undergo PGD for beta-thalassaemia. Some 96.0% of infertile couples in population C were ready to undergo PGD for aneuploidies.

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