How to write a high-quality case report on the prenatal diagnosis of monogenic diseases / 中华围产医学杂志

ABSTRACT

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.