Abstract
BackgroundChromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies. Yet, information regarding preceding and subsequent tests must be considered as a whole before the true cost-effectiveness can emerge. Currently in Hong Kong, karyotyping is offered free as the standard prenatal test while genome-wide array comparative genome hybridization (aCGH), a form of CMA, is self-financed. A new algorithm was proposed to use aCGH following quantitative fluorescent polymerase chain reaction (QF-PCR) as primary test instead of karyotyping. This study aims to evaluate the cost-effectiveness of the proposed algorithm versus the current algorithm for prenatal diagnosis in Hong Kong.MethodsBetween November 2014 and February 2016, 129 pregnant women who required invasive prenatal diagnosis at two public hospitals in Hong Kong were prospectively recruited. The proposed algorithm was performed for all participants in this demonstration study. For the cost-effectiveness analysis, cost and outcome (diagnostic rate) data were compared with that of a hypothetical scenario representing the current algorithm. Further analysis was performed to incorporate women’s willingness-to-pay for the aCGH test. Impact of government subsidies on the aCGH test was explored as a sensitivity analysis.ResultsThe proposed algorithm dominated the current algorithm for prenatal diagnosis. Both algorithms were equally effective but the proposed algorithm was significantly cheaper (p ≤ 0.05). Taking into account women’s willingness-to-pay for an aCGH test, the proposed algorithm was more effective and less costly than the current algorithm. When the government subsidy reaches 100%, the maximum number of diagnoses could be made.ConclusionBy switching to the proposed algorithm, cost saving can be achieved whilst maximizing the diagnostic rate for invasive prenatal diagnosis. It is recommended to implement aCGH as a primary test following QF-PCR to replace the majority of karyotyping for prenatal diagnosis in Hong Kong.
Highlights
Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies
Primary analysis: assuming 100% of the pregnant women are willing to pay for the self-financed array comparative genome hybridization (aCGH) test Table 2 compared the outcomes and costs associated with the proposed algorithm and the hypothetical scenario of the current algorithm for invasive prenatal diagnosis in the public healthcare system in Hong Kong
The pregnancy outcome of the 91 samples with normal aCGH was retrieved from available hospital records, and there were no known missing cases of chromosomal abnormalities detected after birth
Summary
Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies. In Hong Kong, karyotyping is offered free as the standard prenatal test while genome-wide array comparative genome hybridization (aCGH), a form of CMA, is self-financed. Conventional G-banded karyotyping has been the gold standard for chromosomal analysis in prenatal diagnosis for many decades [1,2,3,4]. This technology is limited by the resolution of 5–10 Mb to detect chromosomal anomalies and a turn-around time (TAT) of 2 to 3 weeks. Potential drawbacks of CMA include its inability to detect balanced chromosomal rearrangements, polyploidy, low level mosaicism and marker chromosomes lacking euchromatic material; though polyploidy and low level mosaicism for common autosomal and sex chromosome aneuploidies can be detected by rapid aneuploidy detection using quantitative fluorescent polymerase chain reaction (QF-PCR) before performing CMA
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