Attitude of potential users in Sicily towards preimplantation genetic diagnosis for beta-thalassaemia and aneuploidies. 1998

S Chamayou, and A Guglielmino, and A Giambona, and S Siciliano, and G Di Stefano, and G Scibilia, and C Humeau, and A Maggio, and S Di Leo
Université Montpellier I, Laboratoire de Biologie de la Reproduction, Hôpital Arnaud de Villeneuve, France.

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.

UI MeSH Term Description Entries
D008297 Male Males
D008845 Microinjections The injection of very small amounts of fluid, often with the aid of a microscope and microsyringes. Microinjection
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D005260 Female Females
D005307 Fertilization in Vitro An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro. Test-Tube Fertilization,Fertilizations in Vitro,In Vitro Fertilization,Test-Tube Babies,Babies, Test-Tube,Baby, Test-Tube,Fertilization, Test-Tube,Fertilizations, Test-Tube,In Vitro Fertilizations,Test Tube Babies,Test Tube Fertilization,Test-Tube Baby,Test-Tube Fertilizations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000032 Abortion, Therapeutic Abortion induced to save the life or health of a pregnant woman. (From Dorland, 28th ed) Therapeutic Abortion,Abortions, Therapeutic,Therapeutic Abortions
D000782 Aneuploidy The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid
D012802 Sicily An island located in the Mediterranean Sea and governed by Italy,

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