Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.


OBJECTIVES To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. METHODS We reviewed prenatal ultrasound and fetal MRI studies in two pregnancies at 25% recurrence risk for JS and correlated these findings with gross… (More)