Harris R A, Washington A E, Feeny D, Kuppermann M
Department of Obstetrics, School of Medicine, University of California, San Francisco 94143-0856, USA.
Genet Test. 2001 Spring;5(1):23-32. doi: 10.1089/109065701750168644.
Current guidelines recommend offering invasive testing for chromosomal disorders only to women who are aged 35 or older, or who are at similarly elevated risk (as determined by maternal serum and/or ultrasonographic screening). We conducted a decision analysis, using preference scores obtained from pregnant women, to determine whether current guidelines maximize the health-related quality of life of these women. If only miscarriage and chromosomal abnormalities are considered, the expected value of testing exceeds that of not testing for women 30 years of age or older. However, if a comprehensive range of relevant testing outcomes is considered, testing offers a higher expected value than not testing, regardless of age. Furthermore, patient preferences for specific testing outcomes play a much more substantial role in determining the course of action with the highest expected value than does the probability of any of the possible testing outcomes. The current age- and risk-based guideline for prenatal diagnosis does not maximize expected value and fails to appropriately consider individual patient preferences. For counseling purposes, how an individual values the presence and timing of fetal chromosomal information should be carefully understood.
当前指南建议，仅对年龄在35岁及以上或风险同样升高（由孕妇血清和/或超声筛查确定）的女性进行染色体疾病的侵入性检测。我们进行了一项决策分析，使用从孕妇那里获得的偏好评分，以确定当前指南是否能使这些女性与健康相关的生活质量最大化。如果仅考虑流产和染色体异常，对于30岁及以上的女性，检测的预期价值超过不检测的预期价值。然而，如果考虑一系列全面的相关检测结果，无论年龄大小，检测提供的预期价值都高于不检测。此外，患者对特定检测结果的偏好，在确定具有最高预期价值的行动方案时，比任何可能检测结果的概率发挥着更为重要的作用。当前基于年龄和风险的产前诊断指南并未使预期价值最大化，且未能适当考虑个体患者的偏好。出于咨询目的，应仔细了解个体如何看待胎儿染色体信息的存在及获取时机。
