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Spina Bifida
Roya Sohaey, MD
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12
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5

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Spinal dysraphism
              • Neural tube defect (open or closed)
            • Definitions

              • Bony vertebral defect + neural content exposure
                • Open spina bifida: Without skin coverage (most common)
                • Closed spina bifida: With skin coverage

            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. Khalil A et al: Prenatal prediction of need for ventriculoperitoneal shunt in open spina bifida. Ultrasound Obstet Gynecol. 43(2):159-64, 2014
                                      2. Adzick NS: Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 22(1):10-7, 2013
                                      3. 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
                                      4. 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
                                      5. Adzick NS: Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention. Semin Fetal Neonatal Med. 15(1):9-14, 2010
                                      6. Bulas D: Fetal evaluation of spine dysraphism. Pediatr Radiol. 40(6):1029-37, 2010
                                      7. 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
                                      8. Copp AJ et al: Genetics and development of neural tube defects. J Pathol. 220(2):217-30, 2010
                                      9. Kohl T: Minimally invasive fetoscopic interventions: an overview in 2010. Surg Endosc. 24(8):2056-67, 2010
                                      10. Hirose S et al: Fetal surgery for myelomeningocele. Clin Perinatol. 36(2):431-8, xi, 2009
                                      11. Biggio JR Jr et al: Fetal open spina bifida: a natural history of disease progression in utero. Prenat Diagn. 24(4):287-9, 2004
                                      12. Bruner JP et al: Intrauterine repair of spina bifida: preoperative predictors of shunt-dependent hydrocephalus. Am J Obstet Gynecol. 190(5):1305-12, 2004
                                      13. Mitchell LE et al: Spina bifida. Lancet. 364(9448):1885-95, 2004
                                      14. Sepulveda W et al: Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol. 23(4):352-6, 2004
                                      15. Babcook CJ et al: Prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida: population based study in Utah. J Ultrasound Med. 19(9):619-23; quiz 625-6, 2000
                                      16. Babcook CJ et al: Prenatally detected fetal myelomeningocele: is karyotype analysis warranted? Radiology. 194(2):491-4, 1995
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Spinal dysraphism
                                                  • Neural tube defect (open or closed)
                                                • Definitions

                                                  • Bony vertebral defect + neural content exposure
                                                    • Open spina bifida: Without skin coverage (most common)
                                                    • Closed spina bifida: With skin coverage

                                                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. Khalil A et al: Prenatal prediction of need for ventriculoperitoneal shunt in open spina bifida. Ultrasound Obstet Gynecol. 43(2):159-64, 2014
                                                                          2. Adzick NS: Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 22(1):10-7, 2013
                                                                          3. 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
                                                                          4. 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
                                                                          5. Adzick NS: Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention. Semin Fetal Neonatal Med. 15(1):9-14, 2010
                                                                          6. Bulas D: Fetal evaluation of spine dysraphism. Pediatr Radiol. 40(6):1029-37, 2010
                                                                          7. 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
                                                                          8. Copp AJ et al: Genetics and development of neural tube defects. J Pathol. 220(2):217-30, 2010
                                                                          9. Kohl T: Minimally invasive fetoscopic interventions: an overview in 2010. Surg Endosc. 24(8):2056-67, 2010
                                                                          10. Hirose S et al: Fetal surgery for myelomeningocele. Clin Perinatol. 36(2):431-8, xi, 2009
                                                                          11. Biggio JR Jr et al: Fetal open spina bifida: a natural history of disease progression in utero. Prenat Diagn. 24(4):287-9, 2004
                                                                          12. Bruner JP et al: Intrauterine repair of spina bifida: preoperative predictors of shunt-dependent hydrocephalus. Am J Obstet Gynecol. 190(5):1305-12, 2004
                                                                          13. Mitchell LE et al: Spina bifida. Lancet. 364(9448):1885-95, 2004
                                                                          14. Sepulveda W et al: Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol. 23(4):352-6, 2004
                                                                          15. Babcook CJ et al: Prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida: population based study in Utah. J Ultrasound Med. 19(9):619-23; quiz 625-6, 2000
                                                                          16. Babcook CJ et al: Prenatally detected fetal myelomeningocele: is karyotype analysis warranted? Radiology. 194(2):491-4, 1995