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Title: | Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI. | Authors: | Shelmerdine S.C.;Stanislavsky A.;Abel C.;Prystupa S.;Collett J.;Arthurs O.J.;Goergen S.K.;Alibrahim E.;Govender N. | Institution: | (Goergen, Stanislavsky) Monash Imaging, Clayton, VIC, Australia (Goergen) School of Clinical Sciences, Monash University, Clayton, VIC, Australia (Alibrahim, Govender) Department of Medical Imaging, Royal Women's Hospital, Parkville, VIC, Australia (Abel, Prystupa) Department of Medical Imaging, John Hunter Hospital, Newcastle, NSW, Australia (Abel, Prystupa) Department of Anatomical Pathology, Monash Health, Clayton, VIC, Australia (Collett) Department of Anatomical Pathology, Royal Children's Hospital, Parkville, VIC, Australia (Shelmerdine, Arthurs) Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom (Shelmerdine, Arthurs) UCL Great Ormond Street Institute of Child Health, London, United Kingdom | Issue Date: | 18-Jul-2019 | Copyright year: | 2019 | Publisher: | Springer Verlag (E-mail: service@springer.de) | Place of publication: | Germany | Publication information: | Neuroradiology. 61 (8) (pp 921-934), 2019. Date of Publication: 01 Aug 2019. | Journal: | Neuroradiology | Abstract: | Purpose: To evaluate differences in diagnostic yield of intra-uterine foetal (iuMR) and post-mortem MRI (PMMR) for complex brain malformations, using autopsy as the reference standard. Method(s): In this retrospective, multicentre study spanning 2 years, we reviewed 13 terminated singleton pregnancies with a prenatal ultrasound finding of complex foetal cerebral abnormalities, referred for both iuMR and PMMR. The iuMR and PMMR studies of the brain were reported independently by two groups of radiologists, blinded to each other's reports. Descriptive statistics were used to compare differences in intracranial abnormalities with autopsy (and genetic testing, where present) as reference standard. Result(s): The median gestational age at termination was 24.6 weeks (IQR 22-29) with median time between delivery and PMMR of 133 h (IQR 101-165). There was full concordance between iuMR and PMMR findings and autopsy in 2/13 (15.3%) cases. Partial concordance between both imaging modalities was present in 6/13 (46.2%) and total discordance in the remainder (5/13, 38.5%). When compared to autopsy, PMMR missed important key findings specifically for neuronal migration and cerebellar anomalies, whereas iuMR appeared to overcall CSF space abnormalities which were less crucial to reaching the final overall diagnosis. Conclusion(s): iuMR should be performed to improve foetal phenotyping where there is a prenatal ultrasound for complex foetal brain abnormalities. Reliance on PMMR alone is likely to result in misdiagnosis in a majority of cases.Copyright © 2019, The Author(s). | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1007/s00234-019-02218-9 | PubMed URL: | 31076826 [http://www.ncbi.nlm.nih.gov/pubmed/?term=31076826] | ISSN: | 0028-3940 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/36066 | Type: | Article | Subjects: | *autopsy *brain malformation/di [Diagnosis] cerebellum cerebrospinal fluid clinical article corpus callosum agenesis Dandy Walker syndrome diagnostic accuracy *diagnostic value female fetus *fetus brain fetus death fetus echography gene mutation genetic screening gestational age human human tissue intermethod comparison *neuroimaging *nuclear magnetic resonance imaging phenotype pregnancy termination *prenatal diagnosis priority journal retrospective study cell adhesion molecule/ec [Endogenous Compound] phosphatidylinositol 3 kinase/ec [Endogenous Compound] protein/ec [Endogenous Compound] nuclear magnetic resonance scanner L1 cell adhesion molecule/ec [Endogenous Compound] TUBB1 protein/ec [Endogenous Compound] 1.5T Avanto 3T GE Excite unclassified drug article female fetus *fetus brain fetus death fetus echography gene mutation genetic screening gestational age human human tissue intermethod comparison *neuroimaging *nuclear magnetic resonance imaging phenotype pregnancy termination *prenatal diagnosis priority journal retrospective study clinical article cerebrospinal fluid cerebellum *brain malformation / *diagnosis *autopsy corpus callosum agenesis Dandy Walker syndrome diagnostic accuracy *diagnostic value Article |
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