Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, Victoria 3052, Australia.
Prenat Diagn. 2010 Jun;30(6):522-30. doi: 10.1002/pd.2509.
To map prenatal screening and diagnostic testing pathways in Victorian pregnant women during 2003 to 2004; measure the impact of prenatal diagnostic testing uptake on the effectiveness of prenatal screening for Down syndrome; and assess factors influencing uptake of diagnostic testing following screening.
State-wide data collections of prenatal screening and diagnostic tests were linked to all Victorian births and pregnancy terminations for birth defects.
Overall, 52% of women had a prenatal test (65 692/126 305); screening (44.9%), diagnostic testing (3.9%), or both (3.2%). Uptake of diagnostic testing was 71.4% (2390/3349) after an increased risk screen result, and 2.5% (1381/54 286) after a low risk result. Variation in uptake of diagnostic testing reduced the effectiveness of the screening program by 11.2%: from 87.4% (sensitivity - 125/143) to 76.2% (prenatal diagnoses of Down syndrome - 109/143). In both the increased and low risk groups, uptake was influenced by absolute numerical risk, as well as by the change in numerical risk from a priori risk.
This comprehensive follow-up demonstrates clearly that numerical risk is being used to aid in decision making about confirmatory diagnostic testing. Collectively, these fundamental individual decisions will impact on the overall effectiveness of screening programmes for Down syndrome.
描绘 2003 年至 2004 年维多利亚州孕妇的产前筛查和诊断检测路径；测量产前诊断检测接受率对唐氏综合征产前筛查有效性的影响；并评估筛查后影响诊断检测接受率的因素。
对全州的产前筛查和诊断检测数据进行收集，并与所有维多利亚州的出生缺陷病例和妊娠终止病例相关联。
总体而言，52%的女性接受了产前检测（65692/126305）；筛查（44.9%）、诊断检测（3.9%）或两者（3.2%）。在高风险筛查结果后，诊断检测的接受率为 71.4%（2390/3349），在低风险结果后为 2.5%（1381/54286）。诊断检测接受率的差异使筛查计划的有效性降低了 11.2%：从 87.4%（敏感性-125/143）降至 76.2%（唐氏综合征产前诊断-109/143）。在高风险和低风险组中，接受率均受到绝对数值风险以及先验风险数值变化的影响。
本项全面的随访研究清楚地表明，数值风险正被用于辅助有关确认性诊断检测的决策制定。这些基本的个体决策共同影响唐氏综合征筛查计划的整体有效性。
