Summary
Definition
History and exam
Key diagnostic factors
- maternal risk factors for child with spina bifida
- history of elevated quadruple screening test during prenatal assessment
- history of abnormality on prenatal ultrasound
- open spina bifida lesion: myelomeningocele, 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 (sunsetting)
- 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
- scoliosis
- congenital kyphosis
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
- maternal obesity
- maternal diabetes
- inadequate maternal vitamin B12 intake
- 22q deletion syndrome
- low socioeconomic status
- elevated maternal core body temperature during first trimester
Diagnostic tests
1st tests to order
- prenatal 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)
Tests 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
Treatment algorithm
prenatal diagnosis
neonate or infant
child or adolescent
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 a member of the Professional Advisory Board of the Spina Bifida Association of America; a member of the Planning Committee for the Spina Bifida World Congress, March 2023; and a panelist for the Global Health Symposium at the Spina Bifida World Congress, March 2023. NPD is an author of several references cited in this topic.
Acknowledgements
Dr Nienke P. Dosa would like to gratefully acknowledge Dr Zulma Tovar-Spinoza, Dr Matthew D. Mason, Dr Jonathan V. Riddell, and Dr Danielle A. Katz, previous contributors to this topic.
Disclosures
ZTS is a consultant for Monteris Medical. MDM, JVR, and DAK declare that they have no competing interests.
Peer reviewers
William E. Whitehead, MD
Professor of Neurosurgery
Baylor College of Medicine
Houston
TX
Disclosures
WEW declares that he has no competing interests.
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.
References
Key articles
US Preventive Services Task Force; Barry MJ, Nicholson WK, Silverstein M, et al. Folic acid supplementation to prevent neural tube defects: US Preventive Services Task Force reaffirmation recommendation statement. JAMA. 2023 Aug 1;330(5):454-9. Abstract
Douglas Wilson R, Van Mieghem T, Langlois S, et al. Guideline no. 410: prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021 Jan;43(1):124-39.e8. Abstract
Spina Bifida Association. Guidelines for the care of people with spina bifida. 2018 [internet publication].Full text
Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011 Mar 17;364(11):993-1004.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Spine segmental dysgenesis
- Caudal regression syndrome (sacral agenesis)
- Multiple vertebral segmentation disorder
More DifferentialsGuidelines
- Prenatal screening for Down syndrome, trisomy 18, and open neural tube defects
- Folic acid supplementation to prevent neural tube defects
More GuidelinesLog in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer