EP06.05: Prenatal ultrasound findings of congenital disorders of glycosylation type Id: a case report.

This article discusses a case report of a rare congenital disorder called congenital disorders of glycosylation type Id (CDG-Id). CDG-Id is characterized by a deficiency in alpha-1,3-mannosyltransferase caused by a variant in the ALG3 gene. The article describes a pregnant woman who had a previous pregnancy with fetal malformations and genetic testing revealed the ALG3 gene variant. Subsequent pregnancies also showed fetal malformations consistent with CDG-Id. The article emphasizes the importance of prenatal ultrasound and genetic testing in identifying CDG-Id and providing valuable information for clinical management. [Extracted from the article]