如何撰写一篇高质量的产前诊断单基因病相关病例报告

How to write a high-quality case report on the prenatal diagnosis of monogenic diseases

随着基因检测技术的发展,越来越多的罕见病得以在产前得到诊断,相关内容的病例报告类文章也逐渐增多。关于如何撰写一篇高质量的产前诊断单基因病相关病例报告,本文将从产前诊断时遗传学检测方法的选择、书写与产前诊断有关的单基因病病例报告类文章建议包含的一些必要内容、表型的重要性以及病例相关的讨论这几方面提出建议,以指导产前诊断单基因病相关的病例报告类文章的撰写。

With the development of gene detection technology,more and more rare diseases can be diagnosed prenatally,and a growing number of related case reports have been submitted.This article aims to provide guidance for clinicians who are considering writing a case report on the prenatal diagnosis of monogenic diseases from the following aspects:the option of genetic testing methods for prenatal diagnosis,essential components of the report,the importance of phenotype,and discussion of the related case.