An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies

Sutton, Amelia; Longman, Ryan E.; Odibo, Anthony O.

doi:10.1002/ajmg.a.36435

Cited by 14 publications

(11 citation statements)

References 33 publications

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“…This is an expected finding as the greatest value from information yielded from CMA has been in the setting of fetal anomalies, both for informing reproductive decisions and in planning the management of newborns with various genetic conditions . Although more data are needed, CMA may also prove to be more cost‐effective than karyotype when a fetal anomaly is detected by ultrasound in the future …”

Section: Discussionmentioning

confidence: 93%

“…2,10,14 Although more data are needed, CMA may also prove to be more cost-effective than karyotype when a fetal anomaly is detected by ultrasound in the future. 15,16 Women undergoing an invasive procedure for an abnormal cfDNA result were least likely to accept CMA. This is likely because standard karyotype can reliably confirm the most common aberrations on cfDNA: Trisomy 21, Trisomy 18 and Trisomy 13.…”

Section: Discussionmentioning

confidence: 99%

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Chromosomal microarray use among women undergoing invasive prenatal diagnosis

et al. 2016

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

et al. 2016

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“…The recent literature recommends CMA for identifying additional anomalies prenatally compared to techniques such as karyotype and QF-PCR, which are still used as standard care [5,7,21,22]. This paper suggests that ES should also be considered in the testing process, as it was able to identify additional anomalies microarray was unable to solve.…”

Section: Discussionmentioning

confidence: 99%

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

et al. 2020

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Introduction: In light of the prospective Prenatal Assessment of Genomes and Exomes (PAGE) study, this paper aimed to determine the additional costs of using exome sequencing (ES) alongside or in place of chromosomal microarray (CMA) in a fetus with an identified congenital anomaly. Methods: A decision tree was populated using data from a prospective cohort of women undergoing invasive diagnostic testing. Four testing strategies were evaluated: CMA, ES, CMA followed by ES ("stepwise"); CMA and ES combined. Results: When ES is priced at GBP 2,100 (EUR 2,407/USD 2,694), performing ES alone prenatally would cost a further GBP 31,410 (EUR 36,001/USD 40,289) per additional genetic diagnosis, whereas the stepwise would cost a further GBP 24,657 (EUR 28,261/USD 31,627) per additional genetic diagnosis. When ES is priced at GBP 966 (EUR 1,107/USD 1,239), performing ES alone prenatally would cost a further GBP 11,532 (EUR 13,217/USD 14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional GBP 11,639 (EUR 13,340/USD 14,929) per additional genetic diagnosis. The sub-group analysis suggests that performing stepwise on cases indicative of multiple anomalies at ultrasound scan (USS) compared to cases indicative of a single anomaly, is more cost-effective compared to using ES alone. Discussion/Conclusion: Performing ES alongside CMA is more cost-effective than ES alone, which can potentially lead to improvements in pregnancy management. The direct effects of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected incremental cost-effectiveness ratios.

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“…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.…”

Section: Introductionmentioning

confidence: 99%

“…In this demonstration study, we proposed a new algorithm of rapid aneuploidy detection using QF-PCR followed by CMA for all pregnancies undergoing invasive diagnostic procedure. Although CMA was shown to be more cost-effective than karyotyping, [4,15] the lack of consensus in the combination and sequence of technology choice makes this study important to evaluate the clinical-and cost-effectiveness of incorporating CMA to prenatal diagnosis in the public healthcare system in Hong Kong.…”

Section: Introductionmentioning

confidence: 99%

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

Chung

Chan

Hui

et al. 2020

BMC Pregnancy Childbirth

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Background: Chromosomal 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. Methods: Between 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. Results: The 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. Conclusion: By 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.

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An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies

Cited by 14 publications

References 33 publications

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

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