First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology.

Congenital diaphragmatic hernia (CDH) is a birth defect that can be caused by genetic syndromes. In this study, a case of CDH diagnosed in the first trimester of pregnancy was reported. Exome sequencing (ES) was used to determine the genetic cause of the CDH, and a variant in the ARID2 gene associated with Coffin-Siris syndrome (CSS) type 6 was identified. The study highlights the importance of early diagnosis of CDH and suggests that genetic testing, including ES, should be considered in the evaluation of fetuses with CDH. However, ES is not recommended as a routine test in early pregnancy. [Extracted from the article]