Fetal Interrupted Aortic Arch and Unilateral Duplex Kidney Identified by Second Trimester Ultrasound Prompting Genetic Diagnosis of Neonatal Sclerosing Cholangitis.

What is already known about this topic? ◦. Neonatal sclerosing cholangitis (NSC) is a severe neonatal‐onset cholestatic liver disease, which ultimately develops into end‐stage liver disease and may require liver transplantation in childhood. ◦. Functional hepatobiliary abnormalities are not detectable on prenatal ultrasound; consequently, NSC has never been previously diagnosed prenatally. What does this study add? ◦. Our report is the first one to document prenatal detection of fetal NSC prompted by abnormal ultrasound findings and confirmed by molecular testing in utero. ◦. Our case expands both the phenotypic and genotypic spectrum associated with this genetic condition.