A practical approach to prenatal diagnosis of malformations of cortical development. (September 2021)

• Record Type: Journal Article
• Authors: Lerman-Sagie, Tally; Pogledic, Ivana; Leibovitz, Zvi; Malinger, Gustavo
• Is Part Of: European journal of paediatric neurology. Volume 34(2021)
• Page Start: 50
• Page End: 61
• Publication Date: 2021-09
• Subjects: Malformations of cortical development -- Neurosonography -- MRI -- Lissencephaly -- Polymicrogyria -- Fetus; Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2021.08.001
• Languages: English
• ISSNs: 1090-3798

Abstract

Abstract: Malformations of cortical development (MCD) can frequently be diagnosed at multi-disciplinary Fetal Neurology clinics with the aid of multiplanar neurosonography and MRI. The patients are usually referred following prenatal sonographic screening that raises the suspicion of a possible underlying MCD. These indirect findings include, but are not limited to, ventriculomegaly (lateral ventricles larger than 10 mm), asymmetric ventricles, commissural anomalies, absent cavum septum pellucidum, cerebellar vermian and/or hemispheric anomalies, abnormal head circumference (microcephaly or macrocephaly), multiple CNS malformations, and associated systemic defects. The aim of this paper is to suggest a practical approach to prenatal diagnosis of malformations of cortical development utilizing dedicated neurosonography and MRI, based on the current literature and our own experience. We suggest that an MCD should be suspected in utero when the following intracranial imaging signs are present: abnormal development of the Sylvian fissure; delayed achievement of cortical milestones, premature appearance of sulcation; irregular ventricular borders, abnormal cortical thickness (thick, thin); abnormal shape and orientation of the sulci and gyri; irregular, abnormal, asymmetric, and enlarged hemisphere; simplified cortex; non continuous cortex or cleft; and intraparenchymal echogenic nodules. Following the putative diagnosis of fetal MCD by neurosonography and MRI, when appropriate and possible (depending on gestational age), the imaging diagnosis is supplemented by genetic studies (CMA and trio whole exome sequencing). In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation can be deferred after delivery or termination of pregnancy (in countries where allowed). Highlights: This paper provides a practical approach to prenatal diagnosis of MCD utilizing dedicated neurosonography and MRI. Referral causes include anomalies of ventricles, commissures, cavum septi pellucidi, cerebellum, and head circumference. Signs of fetal MCD: abnormal Sylvian fissure, delayed achievement of cortical milestones, premature appearance of sulcation. Other signs: irregular ventricular borders, abnormal cortical thickness, abnormal shape and orientation of sulci and gyri. Other signs: enlarged hemisphere, simplified cortex, non continuous cortex and parenchymal echogenic nodules.