Two- and three-dimensional prenatal sonographic diagnosis of Alagille syndrome

Joseph R Wax1, Renée Chard, Michael G Pinette

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, 04102.

We describe a case of Alagille syndrome diagnosed by second-trimester ultrasound. Features included the characteristic prominent chin, single umbilical artery, and hemivertebrae. Three-dimensional imaging demonstrated classic butterfly vertebrae, which were not otherwise appreciable. Alagille syndrome may be detected by second-trimester ultrasound in the at-risk fetus.