为考虑进行染色体异常筛查和诊断的患者提供遗传咨询。
Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities.
作者信息
Chard Renée L, Norton Mary E
机构信息
Division of Maternal-Fetal Medicine, Maine Medical Partners Women's Health, 887 Congress Street, Suite 200, Portland, ME 04102, USA.
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, 550 16th Street, 7th Floor, San Francisco, CA 94143, USA.
出版信息
Clin Lab Med. 2016 Jun;36(2):227-36. doi: 10.1016/j.cll.2016.01.005. Epub 2016 Mar 9.
With the introduction of cell-free DNA screening for fetal aneuploidy and chromosomal microarray for prenatal diagnostic testing, options for pregnant women have become increasingly complex. Discussions regarding options for prenatal testing for aneuploidy should occur prior to any testing and should include pertinent risks and benefits of each alternative test. There is no single screening or diagnostic test option that is the right choice for all patients; patient decisions should be based on each individual woman's values and preferences after a discussion of all options.
随着用于胎儿非整倍体检测的游离DNA筛查以及用于产前诊断检测的染色体微阵列技术的引入，孕妇可选择的检测方式日益复杂。关于非整倍体产前检测选项的讨论应在任何检测之前进行，且应包括每种替代检测的相关风险和益处。不存在一种对所有患者都是正确选择的单一筛查或诊断检测选项；患者的决定应基于每位女性在讨论所有选项后的个人价值观和偏好。
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