2024年意大利妇产科学会（SIGO）针对侵入性与非侵入性产前诊断的应用，颁布《意大利妇产科学会非侵入性和侵入性产前诊断指南》［theItalianguidelinesonnon-invasiveandinvasive prenataldiagnosis：executivesummaryofrecommendationsforpracticetheItalianSocietyfor ObstetricsandGynecology（SIGO）］（以下简称为《PD 指南》）。该指南基于目前文献中可获得最佳证据，针对产前筛查及产前诊断中常见问题提出建议，旨在优化产前筛查及产前诊断方案。笔者拟就《PD 指南》中各种产前筛查方案进行比较，以及对侵入性产前诊断前遗传咨询、传染性疾病孕妇的侵入性产前诊断的相关建议，侵入性产前诊断检测的遗传学项目及操作要求等内容进行详细解读。

In 2024，the Italian Society for Obstetrics and Gynecology （SIGO）released the Italianguidelinesonnon-invasiveandinvasiveprenataldiagnosis：executivesummaryof recommendationsforpracticetheItalianSocietyforObstetricsandGynecology（SIGO） （hereinafter referred to as the"PD Guidelines"）addressing the application of invasive and non-invasive prenatal diagnosis.The guidelines are founded on the best available evidence from current literature and provide recommendations for common issues in prenatal screening and prenatal diagnosis，aiming to optimize prenatal screening and prenatal diagnosis procedures.The authors intend to compare various prenatal screening protocols in the PD Guidelines，and provide detailed explanations on the recommendations for genetic counseling prior to invasive prenatal diagnosis，recommendations for invasive prenatal diagnosis for pregnant women with infectious diseases，genetic testing items for invasive prenatal diagnosis，and operational requirements.