Authors (including presenting author) :
Chung CCY (1), Chan KYK (2)(3), Hui PW (2), Au PKC (2)(3), Tam WK (2)(3), Li SKM (2)(3), Leung GKC (1)(3), Fung JLF (1), Chan MCY (1), Luk HM (4), Mak ASL (5), Leung KY (5), Tang MHY (3)(6), Chung BHY (1)(6), Kan ASY (2)(3)
Affiliation :
(1) Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, (2) Department of Obstetrics and Gynaecology, Queen Mary Hospital, (3) Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, (4) Clinical Genetic Service, Department of Health, (5) Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, (6) Department of Obstetrics and Gynaecology, The University of Hong Kong
Introduction :
Chromosomal microarray (CMA) analysis has been established as a useful and cost-effective diagnostic tool in pregnancy in the context of fetal abnormalities in some parts of the world. However, in the Hong Kong public healthcare setting, CMA is still a self-financed item while karyotyping is offered free as the standard prenatal test. With the advantage of detecting both the majority of microscopic and submicroscopic chromosomal abnormalities with shorter turn-around time using CMA, we proposed to use CMA instead of karyotyping as a primary test, following rapid aneuploidy detection (RAD) to all pregnancies undergoing invasive diagnostic procedure to meet international standards.
Objectives :
To economically evaluate the proposed algorithm with implementation of CMA for prenatal diagnosis.
Methodology :
The proposed algorithm was performed for all prospectively recruited pregnant women who required invasive prenatal diagnosis at Queen Elizabeth Hospital and Tsan Yuk Hospital between November 2014 and February 2016. Its diagnostic rate was compared with that of the current algorithm for cost-effectiveness analysis. Further analysis of incorporating women’ willingness-to-pay for CMA and the impact of government subsidy were performed.
Result & Outcome :
The proposed algorithm with CMA was significantly cheaper (p≤0.05) than the current algorithm without it. It was equally effective and less costly than the current algorithm when taking into account women’s willingness-to-pay for CMA. Diagnostic rate could be improved with governmental subsidy on CMA. In conclusion, implementation of CMA as a primary test following RAD is cost saving whilst maximizing the diagnostic rate achieved for invasive prenatal diagnosis. Our results indicated that CMA could replace majority of karyotyping for prenatal diagnosis in Hong Kong.