产前实验室检测技术现状与展望

Status quo and prospect of prenatal laboratory testing technology

  • 摘要: 产前检测包括产前筛查和产前诊断。实验室检测技术主要包括血清学筛查、无创产前检测(non-invasive prenatal testing,NIPT)、荧光原位杂交(fluorescence in situ hybridization,FISH)、染色体核型分析、染色体微阵列分析(chromosome microarray analysis,CMA)、二代测序技术等。不同的技术针对不同的临床需求,其优缺点互为补充。本文就这些检测技术做一简要综述,以期为临床工作提供参考。

     

    Abstract: Prenatal testing includes prenatal screening and prenatal diagnosis such as serological screening, non-invasive prenatal testing (NIPT), fluorescence in situ hybridization (FISH), karyotype analysis, chromosome microarray analysis (CMA), next generation sequencing (NGS), etc. Different methods meet different clinical requirements and have different advantages as well as disadvantages. This study reviews some of these methods and provide evidences and advices to clinicians.

     

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