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Spina bifida and neural tube defects

Last reviewed: 15 Jun 2025
Last updated: 15 May 2025

Summary

Definition

病史和体格检查

关键诊断因素

  • 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
完整详情

其他诊断因素

  • 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
完整详情

危险因素

  • 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
完整详情

诊断性检查

首要检查

  • 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)
完整详情

需考虑的检查

  • prenatal amniocentesis or postnatal chromosomal analysis
  • fluorescence in situ hybridization (FISH) testing
  • MRI brain and spine
  • hip ultrasound
  • hip x-ray
  • fetal echocardiography
  • polysomnography
完整详情

治疗流程

初步治疗

prenatal diagnosis

急症处理

neonate or infant

持续性治疗

child or adolescent

adult

撰稿人

作者

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

利益声明

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.

鸣谢

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

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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.
  • Spina bifida and neural tube defects images
  • Differentials

    • Spine segmental dysgenesis
    • Caudal regression syndrome (sacral agenesis)
    • Multiple vertebral segmentation disorder
    More Differentials
  • Guidelines

    • Prenatal screening for Down syndrome, trisomy 18, and open neural tube defects
    • Folic acid supplementation to prevent neural tube defects
    More Guidelines
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