Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.
OBJECTIVE
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.


CONCLUSIONS
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.
1 Department of Renal Medicine, East and North Hertfordshire NHS Trust , Stevenage, United Kingdom .
Oscar
O
Swift
1 Department of Renal Medicine, East and North Hertfordshire NHS Trust , Stevenage, United Kingdom .|2 Department of Postgraduate Medicine, University of Hertfordshire , Hatfield, United Kingdom .
Enric
E
Vilar
3 Department of Women's Cancer, Elizabeth Garrett Anderson Institute for Women's Health, University College London , London, United Kingdom .
Belinda
B
Rahman
4 Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust , London, United Kingdom .
Lucy
L
Side
5 Centre for Nephrology, Royal Free Hospital, University College London , London, United Kingdom .
Daniel P
DP
Gale
D000328:Adult; D018450:Disease Progression; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods / Q000523:psychology*; D011296:Prenatal Diagnosis / Q000379:methods / Q000523:psychology*; D011446:Prospective Studies; D011795:Surveys and Questionnaires
ADPKD; genetic testing; nephrology; preimplantation genetic diagnosis; prenatal diagnosis