Attitude of potential users in Sicily towards preimplantation genetic diagnosis for beta-thalassaemia and aneuploidies

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.

Public perspectives on the use of preimplantation genetic diagnosis

“…Similar levels of support for PGD have been seen in populations outside the United States including Europe and Asia [16,17]. Although the majority of respondents supported PGD to identify genetic diseases, most did not support PGD for diseases that manifest late in life.…”

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

“…[45][46][47][48] Roberts and Franklin 49 offer one of the few reports investigating factors in decision-making when using PGD and patients' choices made after genetic diagnoses are made. They found that patients make assessments before and throughout the entire PGD process including assessments of the costs of procedure and how their decisions are negotiated within familial and societal contexts, which parallels the outcomes of the meta-analysis.…”

Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

“…This preference has been observed before in couples with different genetic disorders, including cancer susceptibility syndromes as hereditary breast and ovarian cancer and familial adenomatous polyposis syndrome. [19][20][21][22][23] In a recent study among couples with a broad spectrum of genetic disorders, 74% of couples preferred PGD over PND for diagnostic testing in a future pregnancy. 24 The preference for PGD can partly be explained by the fact that PGD offers patients the possibility to have an unaffected genetically related child while termination of a pregnancy can be avoided.…”