Health Economics Unit, Institute of Applied Health Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
Birmingham Women's and Children's Foundation Trust, Birmingham, United Kingdom.
Fetal Diagn Ther. 2020;47(7):554-564. doi: 10.1159/000504976. Epub 2020 Jan 21.
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.
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.
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.
鉴于前瞻性的产前基因组和外显子组评估（PAGE）研究，本文旨在确定在已确诊先天性异常胎儿中，使用外显子组测序（ES）与染色体微阵列（CMA）联合或替代 CMA 的额外成本。
使用一项前瞻性队列研究中接受侵袭性诊断性检测的女性数据，构建决策树。评估了四种检测策略：CMA、ES、CMA 后进行 ES（“逐步”）；CMA 和 ES 联合。
当 ES 的价格为 2,100 英镑（2,407 欧元/2,694 美元）时，单独进行产前 ES 检测将使每个额外的遗传诊断额外花费 31,410 英镑（36,001 欧元/40,289 美元），而逐步检测将使每个额外的遗传诊断额外花费 24,657 英镑（28,261 欧元/31,627 美元）。当 ES 的价格为 966 英镑（1,107 欧元/1,239 美元）时，单独进行产前 ES 检测将使每个额外的遗传诊断额外花费 11,532 英镑（13,217 欧元/14,792 美元），而逐步检测将使每个额外的遗传诊断额外花费 11,639 英镑（13,340 欧元/14,929 美元）。亚组分析表明，与仅存在单一异常的病例相比，对超声扫描（USS）提示存在多种异常的病例进行逐步检测，与单独使用 ES 相比，更具成本效益。
讨论/结论：与单独使用 ES 相比，ES 与 CMA 联合使用更具成本效益，这可能会改善妊娠管理。未检查测试结果对妊娠结局的直接影响；因此，建议进一步研究以检查预测增量成本效益比的变化。
