Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Expert consensus on prenatal fluorescence in situ hybridization].
СтатьяConsensus StatementНазвание и аннотация: Перевод в очереди
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Expert Committee Of The Inter-Laboratory Quality Assessment Of Prenatal Screening And Diagnosis Clinical Test Center Of The National Health Commission, Liu Shiguo, Wang Jingli, Zhang Ru, Liu Wenmiao
Аннотация
Although non-invasive prenatal testing has been widely used, it has certain limitations. As the gold standard of prenatal diagnosis, G-banding karyotype analysis is time-consuming and laborious. Fluorescence in situ hybridization (FISH), as a method for detecting samples with non-radioactive signals, does not require cell culture and has a short turnover time, and can diagnose aneuploidies of chromosomes 13, 18, 21, X, Y with efficiency, which can solve the problems such as insufficient testing ability and long diagnosis period for karyotype analysis. To standardize the procedures of prenatal FISH assay and enhance laboratory quality management, the Expert Committee of the Prenatal Screening and Diagnosis Laboratory of the Clinical Test Center of the National Health Commission and the Inter-laboratory Quality Assessment Committee of the Neonatal Genetic and Metabolic Disease Screening Laboratory have formulated this consensus.