Spina bifida and neural tube defects

Last reviewed: 28 Aug 2022
Last updated: 16 Aug 2022

Summary

Definition

History and exam

Key diagnostic factors

  • maternal risk factors for child with spina bifida
  • history of elevated triple or quadruple screening test during prenatal assessment
  • history of abnormality on prenatal ultrasound
  • open spina bifida lesion: myelomeningocele, myeloschisis, meningocele
  • closed spina bifida lesion: asymmetric gluteal fold or dimple, hemangioma, hairy patch, or other cutaneous markings
  • bulging fontanelle
  • rapid head growth
  • abnormal urinary voiding
  • leakage of meconium or stool
  • midline congenital anomalies: cleft lip or palate, cardiac murmur
  • arching of neck
More key diagnostic factors

Other diagnostic factors

  • absence of anal wink/rectal tone
  • downward deviation of the eyes (sundowning)
  • upward and lateral deviation of eyes
  • abnormal cry
  • breathing abnormalities: apnea, inspiratory stridor, snoring
  • facial asymmetry
  • asymmetry of spontaneous arm and leg movement
  • difficulty with diapering or dressing
  • abnormal muscle tone and bulk in arms and legs
  • decreased sensation
  • hip subluxation or dislocation
  • clubfoot (equinovarus deformity)
  • vertical talus deformity
  • hip and knee flexion contractures
  • feeding difficulties
  • congenital scoliosis
  • congenital kyphosis
Other diagnostic factors

Risk factors

  • inadequate maternal folate intake
  • previous pregnancy affected by spina bifida or other neural tube defect
  • maternal history of spina bifida or other neural tube defect
  • Hispanic ancestry or ethnicity
  • trisomy 18 or trisomy 13
  • prenatal exposure to valproic acid, carbamazepine, isotretinoin, or methotrexate
  • inadequate maternal vitamin B12 intake
  • maternal obesity
  • maternal diabetes
  • female sex of infant
  • 22q deletion syndrome
  • low socioeconomic status
  • elevated maternal core body temperature during first trimester
More risk factors

Diagnostic investigations

1st investigations to order

  • prenatal triple/quadruple test
  • prenatal ultrasound
  • fetal MRI
  • cranial ultrasound
  • spinal ultrasound
  • CT head
  • urine culture
  • serum BUN and creatinine
  • renal ultrasound
  • urodynamic study
  • voiding cystourethrogram (VCUG)
More 1st investigations to order

Investigations to consider

  • prenatal amniocentesis or postnatal chromosomal analysis
  • fluorescence in situ hybridization (FISH) testing
  • MRI brain and spine
  • hip ultrasound
  • hip x-ray
  • fetal echocardiography
  • polysomnography
More investigations to consider

Treatment algorithm

INITIAL

prenatal diagnosis

ACUTE

neonate or infant

ONGOING

adult

Contributors

Authors

Nienke P. Dosa, MD, MPH

Professional Advisory Council, Spina Bifida Association of America

Upstate Foundation Professor of Child Health Policy

Medical Director, Spina Bifida Center of Central New York

SUNY Upstate Medical University

Syracuse

NY

Disclosures

NPD is an author of several references cited in this topic.

Zulma Tovar-Spinoza, MD

Assistant Professor of Neurosurgery

Director of Pediatric Neurosurgery

Department of Neurosurgery

Golisano Children's Hospital

SUNY Upstate Medical University

Syracuse

NY

Disclosures

ZTS is a consultant for Monteris Medical.

Matthew D. Mason, MD

Assistant Professor of Pediatric Urology

Department of Urology

Assistant Dean for Clinical Sciences

SUNY Upstate Medical University

Syracuse

NY

Disclosures

MDM declares that he has no competing interests.

Acknowledgements

Dr Nienke P. Dosa, Dr Zulma Tovar-Spinoza, and Dr Matthew D. Mason would like to gratefully acknowledge Dr Jonathan V. Riddell and Dr Danielle A. Katz, previous contributors to this topic.

Disclosures

JVR and DAK declare that they have no competing interests.

Peer reviewers

Leslie N. Sutton, MD

Chief of Division of Neurosurgery

Director of Neurosurgery Fellowship Program

The Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

LNS is an author of several references cited in this topic.

Dominic Thompson, MBBS, BSc, FRCS(SN)

Consultant Pediatric Neurosurgeon

Great Ormond Street Hospital for Children

London

UK

Disclosures

DT declares that he has no competing interests.

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