Last reviewed: November 2017
Last updated: April  2016

Summary

Definition

History and exam

Key diagnostic factors

  • maternal risk factors for child with spina bifida
  • hx of elevated triple or quadruple screening test during antenatal assessment
  • hx of abnormality on antenatal ultrasound
  • open spina bifida lesion: myelomeningocele, myeloschisis, meningocele
  • closed spina bifida lesion: asymmetrical gluteal fold or dimple, haemangioma, hairy patch, or other cutaneous markings
  • bulging fontanelle
  • rapid head growth
  • abnormal urinary voiding
  • leakage of meconium or stool
  • mid-line congenital anomalies: cleft lip or palate, cardiac murmur
  • arching of neck

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: apnoea, inspiratory stridor, snoring
  • facial asymmetry
  • asymmetry of spontaneous arm and leg movement
  • difficulty with changing nappies or dressing
  • abnormal muscle tone and bulk in arms and legs
  • decreased sensation
  • hip subluxation or dislocation
  • club foot (equinovarus deformity)
  • vertical talus deformity
  • hip and knee flexion contractures
  • feeding difficulties
  • congenital scoliosis
  • congenital kyphosis

Risk factors

  • inadequate maternal folate intake
  • previous pregnancy affected by, or personal hx of, spina bifida or other neural tube defect
  • FHx of spina bifida or other neural tube defect
  • Hispanic ancestry or ethnicity
  • trisomy 18 or trisomy 13
  • antenatal 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
  • genetics

Diagnostic investigations

1st investigations to order

  • antenatal triple/quadruple test
  • antenatal ultrasound
  • fetal MRI
  • cranial ultrasound
  • spinal ultrasound
  • CT head
  • urine culture
  • serum urea and creatinine
  • renal ultrasound
  • urodynamic study
  • voiding cystourethrogram (VCUG)
Full details

Investigations to consider

  • antenatal amniocentesis or postnatal chromosomal analysis
  • fluorescence in situ hybridisation (FISH) testing
  • MRI brain and spine
  • hip ultrasound
  • hip x-ray
  • polysomnography
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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 monograph.

Associate Professor of Orthopedics

Director of Orthopedic Surgery

Golisano Children's Hospital

SUNY Upstate Medical University

Syracuse

NY

Disclosures

DAK owns stock in a number of companies in health-related fields. She has received travel expenses for committee work for the American College of Surgeons and the American Academy of Orthopaedic Surgeons.

Assistant Professor of Urology

Department of Urologic Surgery

Golisano Children's Hospital

SUNY Upstate Medical University

Syracuse

NY

Disclosures

JVR declares that he has no competing interests.

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 the NeuroBlate Monteris system.

Peer reviewers VIEW ALL

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 monograph.

Consultant Pediatric Neurosurgeon

Great Ormond Street Hospital for Children

London

UK

Disclosures

DT declares that he has no competing interests.

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