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