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<p>The posterior fossa is a critical anatomical region housing the cerebellum and brainstem. Posterior fossa malformations are a heterogeneous group of conditions challenging to diagnose and prognosticate prenatally. Fetal magnetic resonance imaging (MRI) plays an important role in their assessment. This retrospective study examined the clinical and radiological data from 115 maternal-fetal dyads (116 fetuses) with posterior fossa malformations on fetal MRI, assessed concordance with postnatal imaging, and investigated MRI features associated with adverse outcomes. Fetal posterior fossa malformations were heterogenous: 66% (76/116) were structural and 34% (40/116) involved only CSF-containing lesions. Cerebellar hypoplasia was the most frequent posterior fossa malformation, observed in 33% (38/116). 78% (91/116) of posterior fossa malformations were “complex” (with additional central nervous system and/or extraneural anomalies). Concordance between fetal MRI and postnatal imaging was 51% (27/53), which improved to 69% (20/29) when CSF-containing lesions were excluded. Among terminated pregnancies who underwent autopsy, the fetal MRI diagnosis was confirmed in 75% (12/16). Chiari-II malformations, pontocerebellar hypoplasia and cerebellar asymmetry were consistently confirmed on postnatal imaging. Four fetuses with cerebellar hypoplasia had normal postnatal imaging. Structural and “complex” posterior fossa malformations were more likely to have poor pregnancy outcomes (i.e., termination, fetal demise, or neonatal death) than CSF-only and isolated anomalies. Genetic testing was positive in 24% (19/80) of tested cases, and 16% (19/116) of the overall cohort. Fetal MRI has an important role in the accurate diagnosis and management of posterior fossa malformations, particularly for structural anomalies which are associated with poor pregnancy outcomes.</p>

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Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing

  • 期刊论文

  • 发表日期：

    2026年5月13日

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  • Maisa Malta,
  • Olivier Fortin,
  • Braeden Badner,
  • Daniel Charouf,
  • Nassima Addour-Boudrahem,
  • Olivier Beaudet-Leclair,
  • Emmanouil Rampakakis,
  • David S. Rosenblatt,
  • Atanas Angelov Nedelchev,
  • Roberta Shear,
  • Lucia Carpineta,
  • Myriam Srour

摘要

The posterior fossa is a critical anatomical region housing the cerebellum and brainstem. Posterior fossa malformations are a heterogeneous group of conditions challenging to diagnose and prognosticate prenatally. Fetal magnetic resonance imaging (MRI) plays an important role in their assessment. This retrospective study examined the clinical and radiological data from 115 maternal-fetal dyads (116 fetuses) with posterior fossa malformations on fetal MRI, assessed concordance with postnatal imaging, and investigated MRI features associated with adverse outcomes. Fetal posterior fossa malformations were heterogenous: 66% (76/116) were structural and 34% (40/116) involved only CSF-containing lesions. Cerebellar hypoplasia was the most frequent posterior fossa malformation, observed in 33% (38/116). 78% (91/116) of posterior fossa malformations were “complex” (with additional central nervous system and/or extraneural anomalies). Concordance between fetal MRI and postnatal imaging was 51% (27/53), which improved to 69% (20/29) when CSF-containing lesions were excluded. Among terminated pregnancies who underwent autopsy, the fetal MRI diagnosis was confirmed in 75% (12/16). Chiari-II malformations, pontocerebellar hypoplasia and cerebellar asymmetry were consistently confirmed on postnatal imaging. Four fetuses with cerebellar hypoplasia had normal postnatal imaging. Structural and “complex” posterior fossa malformations were more likely to have poor pregnancy outcomes (i.e., termination, fetal demise, or neonatal death) than CSF-only and isolated anomalies. Genetic testing was positive in 24% (19/80) of tested cases, and 16% (19/116) of the overall cohort. Fetal MRI has an important role in the accurate diagnosis and management of posterior fossa malformations, particularly for structural anomalies which are associated with poor pregnancy outcomes.