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 prenatal assessment
- hx 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
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
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
- 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
- genetics
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)
Investigations to consider
- prenatal amniocentesis or postnatal chromosomal analysis
- fluorescence in situ hybridization (FISH) testing
- MRI brain and spine
- hip ultrasound
- hip x-ray
- polysomnography
Treatment algorithm
Contributors
Authors
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.
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.
Drs Nienke P. Dosa, Jonathan V. Riddell, and Zulma Tovar-Spinoza would like to gratefully acknowledge Dr Danielle A. Katz, a previous contributor to this topic.
Peer reviewers
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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