游离胎儿 DNA 筛查非整倍体和微缺失综合征。
Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes.
机构信息
Obstetrics and Gynecology/Maternal-Fetal Medicine, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, L458, Portland, OR 97239, USA.
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, Box 0132, 550 16th Street, 7th Floor, San Francisco, CA 94143, USA.
出版信息
Obstet Gynecol Clin North Am. 2018 Mar;45(1):13-26. doi: 10.1016/j.ogc.2017.10.001.
Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.
游离 DNA（cfDNA）筛查常见非整倍体是一种准确的非侵入性筛查常见常染色体和性染色体非整倍体的方法。然而，cfDNA 筛查不应被视为诊断性测试，并且在对阳性测试的女性进行咨询时，应使用阳性预测值来考虑诊断性测试的选择。与传统筛查相比，cfDNA 可能无法检测到那么多重要的染色体异常。此外，由于复发性拷贝数变异的低患病率，在筛查微缺失和重复方面的临床实用性尚不确定，不建议在一般产科人群中进行筛查。
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