Expert consensus on prenatal fluorescence in situ hybridization
10.3760/cma.j.cn511374-20190430-00218
- VernacularTitle:产前荧光原位杂交技术专家共识
- Author:
Shiguo LIU
1
;
Jingli WANG
;
Ru ZHANG
;
Wenmiao LIU
Author Information
1. 青岛大学附属医院医学遗传室（产前诊断中心），山东 266000
- Keywords:
Fluorescence in situ hybridization;
Prenatal diagnosis;
Expert consensus
- From:
Chinese Journal of Medical Genetics
2020;37(9):918-923
- CountryChina
- Language:Chinese
-
Abstract:
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.
