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。

abstractsClinical 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.