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Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery

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Abstract

Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle (“intracranial translucency”) and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones (“lemon” sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna (“banana” sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

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Acknowledgements

This work was supported by an unrestricted research grant from the Sociedad Profesional de Medicina Fetal ‘Fetalmed’ Limitada, Chile.

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Authors and Affiliations

  1. FETALMED – Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Estoril 50, Suites 203 & 515, Las Condes, 7591047, Santiago, Chile

    Waldo Sepulveda & Francisco Sepulveda

  2. Department of Maternal-Fetal Medicine, Palo Alto Medical Foundation, Mountain View, CA, 94040, USA

    Amy E. Wong

  3. Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile

    Juan L. Alcalde

  4. Department of Anesthesiology, Clinica Las Condes, Santiago, Chile

    Juan C. Devoto

  5. Department of Neurosurgery, Clinica Las Condes, Santiago, Chile

    Felipe Otayza

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  1. Waldo Sepulveda
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  2. Amy E. Wong
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  3. Francisco Sepulveda
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  4. Juan L. Alcalde
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  5. Juan C. Devoto
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  6. Felipe Otayza
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Correspondence to Waldo Sepulveda.

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Sepulveda, W., Wong, A.E., Sepulveda, F. et al. Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery. Childs Nerv Syst 33, 1083–1099 (2017). https://doi.org/10.1007/s00381-017-3445-7

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  • DOI: https://doi.org/10.1007/s00381-017-3445-7

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