Preimplantation genetic diagnosis for retinoblastoma survivors: a cost-effectiveness study

D. Schofield, M. J. B. Zeppel*, S. Staffieri, R. N. Shrestha, D. Jelovic, E. Lee, R. V. Jamieson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)
35 Downloads (Pure)


This study aimed to investigate the cost-effectiveness of preimplantation genetic diagnosis (PGD) for the reproductive choices of patients with heritable retinoblastoma. The study modelled the costs of three cycles of in-vitro fertilization (IVF) and PGD across all uptake rates of PGD, number of children affected with retinoblastoma at each uptake rate and the estimated quality-adjusted life years (QALYs) gained. Cost-effectiveness analysis was conducted from the Australian public healthcare perspective. The intervention was the use of three cycles (one fresh and two frozen) of IVF and PGD with the aim of live births unaffected by the retinoblastoma phenotype. Compared with the standard care pathway (i.e. natural pregnancy), IVF and PGD resulted in a cost-saving to 18 years of age of AUD$2,747,294 for a base case of 100 couples with an uptake rate of 50%. IVF and PGD resulted in fewer affected (n=56) and unaffected (n=78) live births compared with standard care (71 affected and 83 unaffected live births), and an additional 0.03 QALYs per live birth. This modelling suggests that the use of IVF and PGD to achieve an unaffected child for patients with heritable retinoblastoma resulted in an overall cost-saving. There was an increase in QALYs per baby across all uptake rates. However, in total, fewer babies were born following the IVF and PGD pathway.

Original languageEnglish
Pages (from-to)37-45
Number of pages9
JournalReproductive Biomedicine and Society Online
Publication statusPublished - 1 Jun 2020

Bibliographical note

Copyright © 2020 The Authors. Published by Elsevier Ltd. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • assisted reproductive technology
  • autosomal-dominant disease
  • cost-effectiveness
  • in-vitro fertilization
  • preimplantation genetic diagnosis
  • retinoblastoma


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