Vintzileos A M, Ananth C V, Fisher A J, Smulian J C, Day-Salvatore D, Beazoglou T, Knuppel R A
Department of Obstetrics and Gynecology and Reproductive Sciences, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
J Matern Fetal Med. 1999 Jul-Aug;8(4):168-72. doi: 10.1002/(SICI)1520-6661(199907/08)8:4<168::AID-MFM6>3.0.CO;2-K.
The objective of this study was to conduct an economic evaluation of routine prenatal carrier testing for fragile X syndrome.
This economic analysis was conducted from the societal perspective. A cost-benefit equation was developed based on the premise that the cost of routinely offering prenatal carrier testing for fragile X syndrome should be at least equal to, or less than, the cost of the current practice of not offering such testing. Sensitivity analyses included key assumptions regarding therapeutic abortion rates (50-100%) and patient screening acceptance rates (50-80%).
A policy of routinely offering prenatal carrier testing for fragile X syndrome may be beneficial only if the cost per screening test is less than $120 during the first year of the screening program, or less than $240 when the program reaches its full maturity. Given the current cost per screening test of $250, prenatal screening for carrier status for fragile X syndrome carries the potential for annual losses of approximately $10 to $195 million in the United States. In addition, approximately 46-115 fetal lives may be lost due to invasive genetic procedures.
Prenatal screening for fragile X syndrome may be economically beneficial only if the cost of the prenatal screening test for carrier identification is considerably less than the current cost.
本研究的目的是对脆性X综合征的常规产前携带者检测进行经济评估。
本经济分析从社会角度进行。基于常规提供脆性X综合征产前携带者检测的成本应至少等于或低于当前不提供此类检测做法的成本这一前提，建立了成本效益方程。敏感性分析包括关于治疗性流产率（50 - 100%）和患者筛查接受率（50 - 80%）的关键假设。
仅当筛查项目第一年每项筛查测试成本低于120美元，或项目完全成熟时低于240美元时，常规提供脆性X综合征产前携带者检测的政策才可能有益。鉴于目前每项筛查测试成本为250美元，在美国，对脆性X综合征携带者状态进行产前筛查每年可能造成约1000万至1.95亿美元的损失。此外，由于侵入性基因检测程序，可能会导致约46 - 115条胎儿生命丧失。
仅当用于携带者识别的产前筛查测试成本远低于当前成本时，对脆性X综合征进行产前筛查在经济上才可能有益。
