Laval University, Quebec City, Quebec, Canada.
Institut National d'Excellence en Santé et Services Sociaux, Quebec City, Quebec, Canada.
BMJ Open. 2023 Aug 30;13(8):e069485. doi: 10.1136/bmjopen-2022-069485.
To determine the cost-effectiveness of the addition of chromosomal anomalies detectable by non-invasive prenatal screening (NIPS), in a prenatal screening programme targeting common aneuploidies.
DESIGN, SETTING AND PARTICIPANTS: A simulation study was conducted to study the addition of chromosomal anomalies detectable by NIPS (sex chromosome aneuploidies, 22q11.2 deletion syndrome, large deletion/duplication >7 Mb and rare autosomal trisomies) to five basic strategies currently aiming the common trisomies: three strategies currently offered by the public healthcare systems in Canada, whose first-tier test is performed with biochemical markers, and two programmes whose first-tier test consists of NIPS-based methods.
The total number of cases of chromosomal anomalies detected and the costs related to the consumption of medical services.
The most effective and the most cost-effective option in almost all prenatal screening strategies is the option that includes all targeted additional conditions. In the strategies where NIPS is used as first-tier testing, the cost per additional case detected by adding all possible additional anomalies to a programme that currently targets only common trisomies is $C25 710 (95% CI $C25 489 to $C25 934) for massively parallel shotgun sequencing and $C57 711 (95% CI $C57 141 to $C58 292) for targeted massively parallel sequencing, respectively. The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.
From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.
确定在针对常见非整倍体的产前筛查项目中加入通过非侵入性产前筛查（NIPS）可检测到的染色体异常的成本效益。
设计、设置和参与者：本研究进行了一项模拟研究，以研究在目前针对常见三体的五种基本策略中加入通过 NIPS 可检测到的染色体异常（性染色体非整倍体、22q11.2 缺失综合征、大于 7Mb 的大片段缺失/重复和罕见的常染色体三体）：加拿大公共医疗系统目前提供的三种策略，其一线检测方法是生化标志物；以及两种一线检测方法为基于 NIPS 的方法的方案。
检测到的染色体异常病例总数以及与医疗服务消耗相关的成本。
在几乎所有产前筛查策略中，最有效和最具成本效益的选择是将所有目标附加条件纳入其中的选择。在将 NIPS 用作一线检测的策略中，对于当前仅针对常见三体的方案，将所有可能的附加异常添加到方案中，检测到每个附加病例的成本分别为使用大规模平行测序的 $25710 加元（95%CI $25489 至 $25934）和靶向大规模平行测序的 $57711 加元（95%CI $57141 至 $58292）。接受曲线表明，在每检测到一个额外病例的意愿支付金额为 50000 加元的情况下，将基于 NIPS 的方法扩展到检测所有考虑的附加条件的可能性具有 90%的成本效益。
从经济角度来看，在使用 NIPS 作为一线筛查测试的策略中，将方案扩展到检测任何考虑的染色体异常（除了三种常见三体）都将具有成本效益。然而，产前筛查方案的潜在扩展还需要考虑社会问题，包括伦理问题。
