Abstract
PurposeOpen spina bifida (OSB) encompasses a wide spectrum of intracranial abnormalities. With foetal surgery as a new treatment option, robust intracranial imaging is important for comprehensive preoperative evaluation and prognostication. We aimed to determine the incidence of infratentorial and supratentorial findings detected by magnetic resonance imaging (MRI) alone and MRI compared to ultrasound.MethodsTwo systematic reviews comparing MRI to ultrasound and MRI alone were conducted on MEDLINE, EMBASE, and Cochrane databases identifying studies of foetal OSB from 2000 to 2020. Intracranial imaging findings were analysed at ≤ 26 or > 26 weeks gestation and neonates (≤ 28 days). Data was independently extracted by two reviewers and meta-analysis was performed where possible.ResultsThirty-six studies reported brain abnormalities detected by MRI alone in patients who previously had an ultrasound. Callosal dysgenesis was identified in 4/29 cases (2 foetuses ≤ 26 weeks, 1 foetus under any gestation, and 1 neonate ≤ 28 days) (15.1%, CI:5.7–34.3%). Heterotopia was identified in 7/40 foetuses ≤ 26 weeks (19.8%, CI:7.7–42.2%), 9/36 foetuses > 26 weeks (25.3%, CI:13.7–41.9%), and 64/250 neonates ≤ 28 days (26.9%, CI:15.3–42.8%). Additional abnormalities included aberrant cortical folding and other Chiari II malformation findings such as lower cervicomedullary kink level, tectal beaking, and hypoplastic tentorium. Eight studies compared MRI directly to ultrasound, but due to reporting inconsistencies, it was not possible to meta-analyse.ConclusionMRI is able to detect anomalies hitherto underestimated in foetal OSB which may be important for case selection. In view of increasing prenatal OSB surgery, further studies are required to assess developmental consequences of these findings.
Highlights
Open spina bifida (OSB) is a non-lethal condition with complex physical and neurodevelopmental sequalae [1–6]
This review has shown that magnetic resonance imaging (MRI) identifies callosal dysgenesis and heterotopia at rates of 15.1% and 25.5% across all gestations and in the early neonatal period, respectively, in OSB patients
OSB foetuses have a constellation of intracranial abnormalities and due to the complex nature of the disease, these anomalies can be varied with some features uncommon
Summary
Open spina bifida (OSB) is a non-lethal condition with complex physical and neurodevelopmental sequalae [1–6]. It comprises brain abnormalities which include the Chiari II malformation (CIIM), a constellation of anomalies, principally, but not exclusively associated with the brainstem and characterised by hindbrain herniation in which the medulla, fourth ventricle, and cerebellum are displaced into the spinal canal. Two systematic reviews were conducted to determine the incidence of typical (widely accepted features that occur in spina bifida) and additional infratentorial, supratentorial, and miscellaneous intracranial findings detected by conventional and advanced MRI in comparison with ultrasound (systematic review 1 (SR1)) and without direct ultrasound comparison (systematic review 2, SR2) at ≤ 26 weeks GA, > 26 weeks GA, and the early neonatal period, ≤ 28 days. Miscellaneous findings pertain to all other anomalies such as intracranial haemorrhages and cysts
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