EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report.

This article discusses a case report of prenatal diagnosis of Cantú syndrome, a rare disorder characterized by hypertrichosis, distinctive facial features, enlarged heart, and skeletal abnormalities. The case involved a 41-year-old pregnant patient who underwent various tests, including ultrasound and amniocentesis, which revealed a heterozygous pathogenic variant in the ABCC9 gene. The fetus was found to have diffuse hypertrichosis, and the woman ultimately decided to terminate the pregnancy. This study expands our understanding of Cantú syndrome and suggests that reduced fetal biometrics in early gestational age may be indicative of this syndrome. [Extracted from the article]