数字PCR无创产前筛查技术应用于胎儿染色体病筛查初步实施的专家共识  

Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening

作　　者：中华医学会医学遗传学分会细胞与基因组学组 代鹏[2] 陈晨[2] 赵干业 刘宁[2] 孔祥东[2] Cyto and Genomics Group,Medical Genetics Branch,Chinese Medical Association;Dai Peng;Chen Chen;Zhao Ganye;Liu Ning;Kong Xiangdong(不详;Genetics and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450012,China)

机构地区：[1]不详 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2024年第10期1164-1170,共7页Chinese Journal of Medical Genetics

基　　金：河南省重点研发与推广科技攻关专项(222102520018);河南省高等学校重点科研项目(22B320011);河南省科技攻关(242102310165)。

摘　　要：血清学筛查和无创产前检测(NIPT)的临床应用目前均存在痛点,即无法兼顾高阳性检出率和低成本。将数字PCR(dPCR)技术用于筛查胎儿染色体病,具有阳性检出率高、灵敏度高、简便易行、检测周期短和成本低等优点,可为21三体、18三体以及13三体等染色体病的产前筛查提供新的选择。为合理和规范地将dPCR技术应用于产前筛查,本学组通过参考国内外相关指南、专家共识和最新文献,讨论并形成了本共识,其内容主要涉及开展dPCR无创产前筛查的基本要求、适用范围、检测前服务流程、检测流程、报告解读和遗传咨询以及技术的局限性等。Clinical application of serological screening and non-invasive prenatal testing(NIPT)both have difficulties to attain high detection rate and low cost.For its advantages of high detection rate,high sensitivity,simplicity,short turnaround time and low cost,digital PCR(dPCR)has provided a new choice for prenatal screening of trisomies 21,18 and 13.To standardize the application of dPCR for prenatal screening,we have formulated this consensus by referring to relevant guidelines,expert consensus and latest literature,which has covered the basic requirements,application scope,pre-testing service,testing procedure,report interpretation,genetic counseling,and limitations for this technology.

关 键 词：数字PCR 无创产前筛查 染色体病 专家共识 

分 类 号：R714.5[医药卫生—妇产科学]