New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre

BJOG. 2021 Jan;128(2):376-383. doi: 10.1111/1471-0528.16185. Epub 2020 Mar 17.


Objective: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).

Design: A retrospective cohort study in a single tertiary centre.

Setting: A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele.

Population: Seventy cases of fetal myelomeningocele.

Methods: Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes.

Main outcome measures: A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%).

Results: Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement.

Conclusion: Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation.

Tweetable abstract: Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.

Keywords: Cerebral anomalies; corpus callosum; myelomeningocele; prenatal diagnosis; ultrasound.

MeSH terms

  • Adult
  • Brain / abnormalities*
  • Brain / diagnostic imaging
  • Brain / embryology
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Meningomyelocele / complications*
  • Meningomyelocele / diagnostic imaging*
  • Meningomyelocele / embryology
  • Pregnancy
  • Pregnancy Outcome
  • Retrospective Studies
  • Ultrasonography, Prenatal*