Background

Structural chromosome abnormalities can cause significant negative reproductive outcomes as they typically result in morbidity and mortality of newborns. The prevalence of structural chromosomal abnormalities in live births is at least 0.05%, of which many of them have parental origins. It is uncommon to predict structural chromosome abnormalities at birth in the first child but it is possible to prevent repeated abnormalities through screening and diagnostic programmes. This study will provide an economic analysis of the prenatal detection of these abnormalities.

Methods

A cost-benefit analysis using a decision analytic model was employed to compare the status quo (doing nothing) with two interventional strategies. The first strategy (Strategy I) is preconceptional screening plus amniocentesis, and the second strategy (Strategy II) is amniocentesis alone. The monetary values in Thai baht (THB) were adjusted to international dollars (I$) using purchasing power parity (PPP) (I$1 = THB 17.60 for the year 2013). The robustness of the results was tested by applying a probabilistic sensitivity analysis.

Results

Both diagnostic strategies can reduce approximately 10.7–11.1 births with abnormal chromosomes per 1,000 diagnosed couples. The benefit cost ratios were 1.62 for Strategy I and 1.24 for Strategy II. Net present values per 1,000 diagnoses in couples were I$464,000 for Strategy I and I$267,000 for Strategy II. The probabilistic sensitivity analysis suggested that the cost-benefit analysis was sufficiently robust, confirming that both strategies provided higher benefits than costs.

Conclusions

Since the benefits of both diagnostic strategies exceeded their costs, both strategies are economical–with Strategy I being more economically attractive. Strategy I is superior to Strategy II because it decreases the risk of normal children potentially dying from the amniocentesis process.

中文翻译：

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对有结构性染色体异常的儿童进行染色体检测的经济分析

背景

结构性染色体异常可能会导致严重的生殖不良结果，因为它们通常会导致新生儿的发病率和死亡率。活产婴儿中结构性染色体异常的患病率至少为0.05％，其中许多是父母亲。通常很难预测第一个孩子出生时的结构性染色体异常，但是可以通过筛查和诊断程序来防止重复出现异常。这项研究将提供对这些异常的产前检测的经济分析。

方法

使用决策分析模型进行成本效益分析，以比较两种干预策略的现状（不采取任何措施）。第一个策略（策略I）是孕前筛查和羊膜穿刺术，第二个策略（策略II）仅是羊膜腔穿刺术。泰铢（THB）的货币价值使用购买力平价（PPP）调整为国际美元（I $）（2013年I $ 1 = 17.60 THB）。结果的稳健性通过应用概率敏感性分析进行了测试。

结果

两种诊断策略每1000对诊断的夫妇可减少约10.7–11.1例具有异常染色体的出生。策略I的收益成本比率为1.62，策略II的收益成本比率为1.24。策略I和策略II的每1,000例诊断中的净现值是464,000澳元，而策略II是267,000澳元。概率敏感性分析表明，成本效益分析具有足够的鲁棒性，证实了这两种策略都提供了比成本更高的收益。

结论

由于这两种诊断策略的收益都超过了其成本，因此这两种策略都是经济的，而策略I在经济上更具吸引力。策略I优于策略II，因为它降低了正常儿童因羊膜穿刺术死亡的风险。