Clinical Fellow.
Genetic Counselor.
Obstet Gynecol Surv. 2017 Oct;72(10):610-617. doi: 10.1097/OGX.0000000000000491.
The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice.
We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines.
We performed a descriptive review of 8 recently published (2016-2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement. Topics included carrier screening, cell-free DNA screening, chromosomal microarray analysis, next-generation sequencing, and prenatal diagnostic testing. The recommendations in these publications were compared, and the additions and changes to previous recommendations and guidelines were summarized.
Recent publications contain many updates and changes to previous screening and testing strategies, most of which are consistent between professional societies. Although many new technologies have been integrated into prenatal diagnosis, some newer technologies are not yet routinely recommended for widespread use, often because of lack of clinical trials and validation studies.
Prenatal screening and testing options are rapidly expanding. To provide best-practice prenatal care, obstetric care providers should educate themselves about the most up-to-date recommendations and be prepared to interpret and apply these guidelines to their patients. Society guidelines are largely in agreement.
产前基因检测和筛查工具的快速发展不断挑战着临床医生，使其必须跟上当前最佳实践的步伐。
我们旨在回顾、比较和总结最近关于染色体非整倍体的孕前遗传筛查和产前诊断的国家学会指南，重点关注与以往指南相比发生的变化和新增内容。
我们对 8 篇最近发表的（2016-2017 年）关于产前遗传筛查和检测的国家指南和更新内容进行了描述性回顾，其中包括美国妇产科医师学会委员会意见和实践公告、母胎医学学会咨询系列出版物，以及美国医学遗传学与基因组学学会的立场声明。涵盖的主题包括携带者筛查、游离 DNA 筛查、染色体微阵列分析、下一代测序和产前诊断检测。对这些出版物中的建议进行了比较，并总结了对以往建议和指南的新增和更改内容。
最近的出版物对之前的筛查和检测策略进行了许多更新和更改，这些更改在专业学会之间大多是一致的。尽管许多新技术已被纳入产前诊断，但由于缺乏临床试验和验证研究，一些较新的技术尚未被常规推荐广泛使用。
产前筛查和检测的选择正在迅速扩大。为了提供最佳的产前护理，产科护理提供者应了解最新的建议，并准备好解释和应用这些指南来为患者提供服务。学会指南在很大程度上是一致的。
