产前诊断
核型
医学
微阵列
产前筛查
产科
胎儿
怀孕
生物
遗传学
染色体
基因
基因表达
作者
Sara Hay,Trilochan Sahoo,Mary K. Travis,Karine Hovanes,Natasa Dzidic,Charles Doherty,Michelle N. Strecker
摘要
What's already known about this topic? Current professional guidelines regarding the use of chromosomal microarray analysis (CMA) versus karyotyping in prenatal diagnosis support CMA over karyotype only when fetal structural abnormalities are present. Examination of the clinical utility of these guidelines, given advances in microarray technology and prenatal screening, is largely unaddressed. What does this study add? This study demonstrates the diagnostic superiority of CMA by SNP microarray compared with karyotyping for prenatal diagnosis, regardless of the clinical indication for testing.
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