Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI

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. Methods 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. Results 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. Conclusions 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. Electronic supplementary material The online version of this article (10.1007/s00234-019-02218-9) contains supplementary material, which is available to authorized users.

Current state of perinatal postmortem magnetic resonance imaging: European Society of Paediatric Radiology questionnaire-based survey and recommendations

“…5) The value of an international program to help support countries and demonstrate the value of paediatric postmortem MRI to governments and insurance companies. 6) One centre has shown that paediatric postmortem MRI is not as accurate as intrauterine foetal MRI for central nervous system cases [17], a finding supported by another study [18]. Consequently, the centre is now using intrauterine foetal MRI as a first step in postmortem investigations when there is an intention to terminate the pregnancy due to a foetal cranial abnormality.…”

Maceration determines diagnostic yield of fetal and neonatal whole body post‐mortem ultrasound

“…There is now also evidence that where a fetal brain malformation is suspected and termination of pregnancy is to be sought that intrauterine fetal MRI may be even more accurate than the PMMR . However, where an intrauterine death or stillbirth has occurred prior to the possibility for performing an intrauterine fetal MRI, then PMMR would be the next best option.…”

Fetal brain MRI: how it added to ultrasound diagnosis of fetal CNS anomalies-1 year experience

“…The incidence of CNS abnormalities is 0.14-0.16% in live births and reaches 3-6% in stillbirths [1]. They are the most common reason for pregnancy terminations owing to their poor longterm outcomes [2].…”