eprintid: 1520835 rev_number: 46 eprint_status: archive userid: 608 dir: disk0/01/52/08/35 datestamp: 2016-10-11 15:35:09 lastmod: 2021-12-13 02:57:37 status_changed: 2016-10-12 11:37:21 type: article metadata_visibility: show creators_name: Swift, O creators_name: Vilar, E creators_name: Rahman, B creators_name: Side, L creators_name: Gale, DP title: Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis ispublished: pub divisions: UCL divisions: B02 divisions: C10 divisions: D17 divisions: G93 divisions: D11 divisions: G15 keywords: ADPKD, nephrology, prenatal diagnosis, preimplantation genetic diagnosis, genetic testing note: Copyright © 2016 Mary Ann Liebert, Inc. The final publication is available from Mary Ann Liebert, Inc., publishers at http://dx.doi.org/10.1089/gtmb.2016.0050 abstract: AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. RESULTS: The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. DISCUSSION: There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes. date: 2016-12-01 date_type: published official_url: http://dx.doi.org/10.1089/gtmb.2016.0050 oa_status: green full_text_type: other language: eng primo: open primo_central: open_green article_type_text: Journal Article verified: verified_manual elements_id: 1181885 doi: 10.1089/gtmb.2016.0050 lyricists_name: Gale, Daniel lyricists_name: Rahman, Belinda lyricists_name: Side, Lucy lyricists_id: DGALE18 lyricists_id: BRAHM61 lyricists_id: LESID26 actors_name: Rahman, Belinda actors_id: BRAHM61 actors_role: owner full_text_status: public publication: Genetic Testing and Molecular Biomarkers volume: 20 number: 12 issn: 1945-0257 citation: Swift, O; Vilar, E; Rahman, B; Side, L; Gale, DP; (2016) Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis. Genetic Testing and Molecular Biomarkers , 20 (12) 10.1089/gtmb.2016.0050 <https://doi.org/10.1089/gtmb.2016.0050>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/1520835/1/Swift%20et%20al%20Attitudes%20in%20Patients%20with%20Autosomal%20Dominant%20Polycystic%20Kidney%20Disease%20AAM.pdf document_url: https://discovery.ucl.ac.uk/id/eprint/1520835/7/Swift%20et%20al%20Attitudes%20in%20Patients%20with%20Autosomal%20Dominant%20Polycystic%20Kidney%20Disease%20Supplementary%20data.pdf