Attitudes toward prenatal screening and testing for Fragile X
Attitudes toward prenatal screening and testing for Fragile X
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DOI：
10.1097/01.gim.0000200158.66554.7f
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发表时间：
2006-02-01
影响因子：
8.8
通讯作者：
Musci, TJ
中科院分区：
文献类型：
--
作者：
Fanos, JH;Spangner, KA;Musci, TJ
目的：目前，美国医学遗传学和妇产科学院建议仅对具有特定家族史指标的个体进行产前筛查。我们的目的是研究在产前环境中提供广泛的脆性 X 细胞筛查对患者的态度和心理影响。方法：参与者是从怀孕前三个月由其主要提供者转介接受“产前诊断选择”咨询的孕妇中招募的。结果：关于脆性 X 细胞的预测试知识有限； 33% 的人在入组前听说过脆性 X 综合征。咨询后的知识同样有限；只有 30% 的人准确理解女孩面临的 50% 的风险。参与者强烈支持接受测试或筛查，并且没有经历与脆性 X 射线测试相关的过度焦虑。受访者希望增加普通人群对脆性 X 细胞的了解，并建议在常规产前护理期间进行筛查。结论：在这种情况下进行脆性 X 细胞筛查对参与者来说是一种有利的检测体验。有限的测试前知识和测试后对脆性 X 细胞特定遗传信息的保留表明，广泛的筛查将带来重大的咨询和教育挑战，应在此类计划中解决。
Purpose: Currently, the American Colleges of Medical Genetics and Obstetrics and Gynecology recommend screening in the prenatal setting only for individuals with specific family history indicators. Our aims were to study patient attitudes and psychologic impact of offering widespread screening for Fragile X in a prenatal setting.Methods: Participants were recruited from pregnant women referred for "Prenatal Diagnosis Options" counseling by their primary provider in the first trimester of pregnancy.Results: Pretest knowledge about Fragile X was limited; 33% had heard of Fragile X syndrome before enrollment. Postcounseling knowledge was similarly limited; only 30% accurately understood the 50% risk for girls. Participants were strongly in favor of being tested or screened, and did not experience undue anxiety related to Fragile X testing. Respondents hoped that knowledge of Fragile X in the general population would increase, and recommended that screening be offered during routine prenatal care.Conclusion: Fragile X screening in this setting was a favorable testing experience for the participants. Limited pretest knowledge and posttest retention of specific genetic information on Fragile X suggest that widespread screening will pose significant counseling and educational challenges, which should be addressed in such programs.