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Spina Bifida
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Spina bifida aperta: Open spina bifida
              • Spina bifida occulta: Closed spina bifida (typically small)
              • Neural tube defect (open or closed)
              • Spinal dysraphism
            • Definitions

              • Bony vertebral defect + neural content exposure
                • Open spina bifida: Without skin coverage (90%)
                • Closed spina bifida: With skin coverage (10%)
              • Subtypes of open spina bifida
                • Meningocele: Dural sac only involved (will have bulge)
                • Myelomeningocele: Neural elements attached to herniated dural sac (will have bulge)
                • Myelocele (a.k.a. myeloschisis): Neural placode exposed without dural herniation (flat)
              • Affected level is defined by lowermost closed level

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Gotha L et al: Fetal spina bifida: what we tell the parents. Prenat Diagn. 40(12):1499-507, 2020
                                      2. Wertaschnigg D et al: Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation. Prenat Diagn. 40(3):365-72, 2020
                                      3. Sacco A et al: Fetal surgery for open spina bifida. Obstet Gynaecol. 21(4):271-82, 2019
                                      4. Ushakov F et al: Crash sign: new first-trimester sonographic marker of spina bifida. Ultrasound Obstet Gynecol. 54(6):740-5, 2019
                                      5. Nagaraj UD et al: Myelomeningocele versus myelocele on fetal MR images: are there differences in brain findings? AJR Am J Roentgenol. 211(6):1376-80, 2018
                                      6. Khalil A et al: Prenatal prediction of need for ventriculoperitoneal shunt in open spina bifida. Ultrasound Obstet Gynecol. 43(2):159-64, 2014
                                      7. Adzick NS: Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 22(1):10-7, 2013
                                      8. Mangione R et al: Screening for fetal spina bifida at the 11-13-week scan using three anatomical features of the posterior brain. Ultrasound Obstet Gynecol. 42(4):416-20, 2013
                                      9. Agopian AJ et al: Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study. Am J Med Genet A. 158A(1):109-15, 2012
                                      10. Adzick NS: Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention. Semin Fetal Neonatal Med. 15(1):9-14, 2010
                                      11. Bulas D: Fetal evaluation of spine dysraphism. Pediatr Radiol. 40(6):1029-37, 2010
                                      12. Chao TT et al: Central nervous system findings on fetal magnetic resonance imaging and outcomes in children with spina bifida. Obstet Gynecol. 116(2 Pt 1):323-9, 2010
                                      13. Copp AJ et al: Genetics and development of neural tube defects. J Pathol. 220(2):217-30, 2010
                                      14. Kohl T: Minimally invasive fetoscopic interventions: an overview in 2010. Surg Endosc. 24(8):2056-67, 2010
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Spina bifida aperta: Open spina bifida
                                                  • Spina bifida occulta: Closed spina bifida (typically small)
                                                  • Neural tube defect (open or closed)
                                                  • Spinal dysraphism
                                                • Definitions

                                                  • Bony vertebral defect + neural content exposure
                                                    • Open spina bifida: Without skin coverage (90%)
                                                    • Closed spina bifida: With skin coverage (10%)
                                                  • Subtypes of open spina bifida
                                                    • Meningocele: Dural sac only involved (will have bulge)
                                                    • Myelomeningocele: Neural elements attached to herniated dural sac (will have bulge)
                                                    • Myelocele (a.k.a. myeloschisis): Neural placode exposed without dural herniation (flat)
                                                  • Affected level is defined by lowermost closed level

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Gotha L et al: Fetal spina bifida: what we tell the parents. Prenat Diagn. 40(12):1499-507, 2020
                                                                          2. Wertaschnigg D et al: Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation. Prenat Diagn. 40(3):365-72, 2020
                                                                          3. Sacco A et al: Fetal surgery for open spina bifida. Obstet Gynaecol. 21(4):271-82, 2019
                                                                          4. Ushakov F et al: Crash sign: new first-trimester sonographic marker of spina bifida. Ultrasound Obstet Gynecol. 54(6):740-5, 2019
                                                                          5. Nagaraj UD et al: Myelomeningocele versus myelocele on fetal MR images: are there differences in brain findings? AJR Am J Roentgenol. 211(6):1376-80, 2018
                                                                          6. Khalil A et al: Prenatal prediction of need for ventriculoperitoneal shunt in open spina bifida. Ultrasound Obstet Gynecol. 43(2):159-64, 2014
                                                                          7. Adzick NS: Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 22(1):10-7, 2013
                                                                          8. Mangione R et al: Screening for fetal spina bifida at the 11-13-week scan using three anatomical features of the posterior brain. Ultrasound Obstet Gynecol. 42(4):416-20, 2013
                                                                          9. Agopian AJ et al: Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study. Am J Med Genet A. 158A(1):109-15, 2012
                                                                          10. Adzick NS: Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention. Semin Fetal Neonatal Med. 15(1):9-14, 2010
                                                                          11. Bulas D: Fetal evaluation of spine dysraphism. Pediatr Radiol. 40(6):1029-37, 2010
                                                                          12. Chao TT et al: Central nervous system findings on fetal magnetic resonance imaging and outcomes in children with spina bifida. Obstet Gynecol. 116(2 Pt 1):323-9, 2010
                                                                          13. Copp AJ et al: Genetics and development of neural tube defects. J Pathol. 220(2):217-30, 2010
                                                                          14. Kohl T: Minimally invasive fetoscopic interventions: an overview in 2010. Surg Endosc. 24(8):2056-67, 2010