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.