Reddy Uma M, Wapner Ronald J
Department of Health and Human Services, Pregnancy and Perinatology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-7510, USA.
Clin Obstet Gynecol. 2007 Jun;50(2):442-53. doi: 10.1097/GRF.0b013e31804c9b99.
Counseling regarding the options for aneuploidy risk assessment is complicated and requires thorough counseling with the patient. Second trimester serum risk assessment has been the gold standard because of widespread availability, low cost, and vast experience with counseling and performance. First trimester risk assessment is becoming more widely available and provides increased sensitivity for Down syndrome detection with a detection rate of approximately 87% (95% confidence interval: 84.0% to 89.4%), at a fixed false-positive rate of 5%. With the advent of first trimester techniques, controversy has arisen as there are advocates for the different recently available approaches. In this chapter, we outline the various options in a manner that will provide practical information for physicians offering such testing. Clearly, implementation of first trimester risk assessment requires special training and meticulous quality control standards for nuchal translucency and laboratory measurements, access to chorionic villus sampling, and also appropriate counseling regarding risk assessment options.
关于非整倍体风险评估选项的咨询很复杂，需要与患者进行全面的咨询。由于广泛可用、成本低以及在咨询和操作方面有丰富经验，孕中期血清风险评估一直是金标准。孕早期风险评估越来越普及，对唐氏综合征检测的敏感性更高，检测率约为87%（95%置信区间：84.0%至89.4%），假阳性率固定为5%。随着孕早期技术的出现，由于有不同的近期可用方法的支持者，争议随之而来。在本章中，我们将以一种为提供此类检测的医生提供实用信息的方式概述各种选项。显然，实施孕早期风险评估需要特殊培训以及针对颈部透明带和实验室测量的严格质量控制标准、绒毛取样的途径，以及关于风险评估选项的适当咨询。
