■本研究旨在评估孕前耳聋筛查政策的有效性和成本效益。
■上海已婚夫妇,北京,和中国的苏州被录取。我们进行了高通量,妇女及其伴侣的耳聋孕前基因筛查。我们比较了耳聋基因筛查的成本-效果与现状。决策树模型中包括了两步筛选(妻子然后是伴侣)以及后续治疗和干预措施。我们根据失聪新生儿的减少情况进行了成本效益分析,健康的新生儿,孕前耳聋基因筛查的成本-效用分析.成本,实用程序,三个模型中使用的概率数据是从一项调查中收集的,并结合文献和专家顾问。使用5%的折现率和一系列单向敏感性分析以及蒙特卡洛模拟来测试本研究的可靠性。
■在2019年1月1日至2021年12月31日之间,我们从上海的社区卫生服务中心招募了6,200名女性和540名男性配偶,北京,还有苏州。减少聋哑新生儿出生的增量成本效益比(ICER)为每例32,656美元,增加一例健康新生儿出生的增量成本效益比为每例1,203,926美元。这种差距的存在是因为新生儿出生的总体减少。从整个社会的角度来看,耳聋基因筛查对于降低人群整体质量调整生命年(QALY)并不具成本效益.
■孕前基因检测可有效减少先天性耳聋的发生。与受影响家庭的未来医疗支出和收入损失的成本相比,这是一种节省成本的措施。然而,这种筛查和预防性避免怀孕将减少人口规模和QALY。只有使用PGT的筛查后ART才显示出增加健康新生儿的出生。关注关键群体,如早产或近亲夫妇可能会改善筛查的社会影响。
This research aims to assess the effectiveness and cost-effectiveness of pre-pregnancy deafness screening policies.
Married couples from Shanghai, Beijing, and Suzhou in China were enrolled. We conducted high-throughput, pre-pregnancy genetic screenings for deafness in women and their partners. We compared the cost-effectiveness of deafness genetic screening with the status quo. The two-step screening (wife then partner) and following treatments and interventions were included in the decision tree model. We conducted a cost-effectiveness analysis based on the decrease in deaf newborns, healthy newborn births, and cost-utility analysis of pre-pregnancy deafness genetic screening separately. Cost, utility, and probability data used in the three models were collected from a survey combined with literature and expert consultants. A 5% discount rate and a series of one-way sensitivity analyses along with a Monte Carlo simulation were used to test the reliability of this research.
Between Jan 1, 2019, and Dec 31, 2021, we recruited 6,200 females and 540 male spouses from community health service centers in Shanghai, Beijing, and Suzhou. The incremental cost-effectiveness ratio (ICER) for reducing deaf newborn births was USD 32,656 per case and USD 1,203,926 per case for increasing one healthy newborn birth. This gap exists because of the overall decrease of newborn births. From the perspective of the whole society, deafness genetic screening is not cost-effective for reducing the overall quality-adjusted life years (QALY) in the population.
Pre-pregnancy genetic testing is effective in decreasing the occurrence of congenital deafness. It is a cost-saving measure when compared with the costs of future medical expenditure and income loss for the affected families. However, such screening and preventive avoidance of pregnancy will decrease the population size and QALY. Only post-screening ART with PGT was shown to increase the birth of healthy newborns. Focusing on key groups such as premature births or consanguineous couples may improve the societal effects of screening.