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 neuropathology in one affected fetus. RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. CONCLUSIONS: With longitudinal monitoring, it is possible to diagnose JS in at-risk pregnancies before 24 weeks' gestation. On the basis of our data and review of the literature, we propose a protocol for monitoring pregnancies at risk for JS, utilizing serial ultrasounds combined with fetal MRI at 20-22 weeks' gestation to maximize the accuracy of prenatal diagnosis.
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 neuropathology in one affected fetus. RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. CONCLUSIONS: With longitudinal monitoring, it is possible to diagnose JS in at-risk pregnancies before 24 weeks' gestation. On the basis of our data and review of the literature, we propose a protocol for monitoring pregnancies at risk for JS, utilizing serial ultrasounds combined with fetal MRI at 20-22 weeks' gestation to maximize the accuracy of prenatal diagnosis.
Authors: Ruxandra Bachmann-Gagescu; Jennifer C Dempsey; Sara Bulgheroni; Maida L Chen; Stefano D'Arrigo; Ian A Glass; Theo Heller; Elise Héon; Friedhelm Hildebrandt; Nirmal Joshi; Dana Knutzen; Hester Y Kroes; Stephen H Mack; Sara Nuovo; Melissa A Parisi; Joseph Snow; Angela C Summers; Jordan M Symons; Wadih M Zein; Eugen Boltshauser; John A Sayer; Meral Gunay-Aygun; Enza Maria Valente; Dan Doherty Journal: Am J Med Genet A Date: 2019-11-11 Impact factor: 2.802