Biggio Joseph R, Morris T Christopher, Owen John, Stringer Jeffery S A
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine and Reproductive Genetics, University of Alabama at Birmingham, Ala, USA.
Am J Obstet Gynecol. 2004 Mar;190(3):721-9. doi: 10.1016/j.ajog.2003.09.028.
This study was undertaken to examine the cost-effectiveness and procedural-related losses associated with 5 prenatal screening strategies for fetal aneuploidy in women under 35 years old.
Five prenatal screening strategies were compared in a decision analysis model: triple screen: maternal age and midtrimester serum alpha-fetoprotein, human chorionic gonadotropin (hCG), and unconjugated estriol; quad screen: triple screen plus serum dimeric inhibin A; first-trimester screen: maternal age, serum pregnancy-associated plasma protein A and free beta-hCG and fetal nuchal translucency at 10 to 14 weeks' gestation; integrated screen: first-trimester screen plus quad screen, but first-trimester results are withheld until the quad screen is completed when a composite result is provided; sequential screen: first-trimester screen plus quad screen, but the first-trimester screen results are provided immediately and prenatal diagnosis offered if positive; later prenatal diagnosis is available if the quad screen is positive. Model estimates were literature derived, and cost estimates also included local sources. The 5 strategies were compared for cost, the numbers of Down syndrome fetuses detected and live births averted, and the number of procedure-related euploid losses. Sensitivity analyses were performed for parameters with imprecise point estimates.
In the baseline analysis, sequential screening was the least expensive strategy ($455 million). It detected the most Down syndrome fetuses (n=1213), averted the most Down syndrome live births (n=678), but led to the highest number of procedure-related euploid losses (n=859). The integrated screen had the fewest euploid losses (n=62) and averted the second most Down syndrome live births (n=520). If fewer than 70% of women diagnosed with fetal Down syndrome elect to abort, the quad screen became the least expensive strategy.
Although sequential screening was the most cost-effective prenatal screening strategy for fetal trisomy 21, it had the highest procedure-related euploid loss rate. The patient's perspective on detection versus fetal safety may help define the optimal screening strategy.
本研究旨在探讨35岁以下女性胎儿非整倍体5种产前筛查策略的成本效益及与操作相关的损失。
在决策分析模型中比较了5种产前筛查策略：三联筛查：孕妇年龄及孕中期血清甲胎蛋白、人绒毛膜促性腺激素（hCG）和未结合雌三醇；四联筛查：三联筛查加血清二聚抑制素A；孕早期筛查：孕妇年龄、血清妊娠相关血浆蛋白A和游离β-hCG以及孕10至14周时胎儿颈部透明带厚度；整合筛查：孕早期筛查加四联筛查，但孕早期结果在四联筛查完成并提供综合结果前不予告知；序贯筛查：孕早期筛查加四联筛查，但孕早期筛查结果立即提供，若为阳性则提供产前诊断；若四联筛查为阳性则可进行后期产前诊断。模型估计值来源于文献，成本估计还包括当地数据。比较了这5种策略的成本、检测出的唐氏综合征胎儿数量及避免的活产数，以及与操作相关的整倍体胎儿丢失数。对估计值不精确的参数进行了敏感性分析。
在基线分析中，序贯筛查是成本最低的策略（4.55亿美元）。它检测出的唐氏综合征胎儿最多（n = 1213），避免的唐氏综合征活产数最多（n = 678），但导致的与操作相关的整倍体胎儿丢失数也最多（n = 859）。整合筛查的整倍体胎儿丢失数最少（n = 62），避免的唐氏综合征活产数排第二（n = 520）。如果诊断为胎儿唐氏综合征的孕妇中选择流产的比例低于70%，四联筛查则成为成本最低的策略。
尽管序贯筛查是胎儿21三体最具成本效益的产前筛查策略，但它与操作相关的整倍体胎儿丢失率最高。患者对检测与胎儿安全的看法可能有助于确定最佳筛查策略。
