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Exencephaly, Anencephaly
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Exencephaly-anencephaly sequence
            • Definitions

              • Exencephaly is precursor to anencephaly, part of sequence of destruction of exposed neural tissue

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Fleurke-Rozema JH et al: Timing of detection of anencephaly in the Netherlands. Prenat Diagn. 35(5):483-5, 2015
                                      2. Karaman A et al: Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. Genet Couns. 26(1):77-9, 2015
                                      3. Pelizzari E et al: Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. Sao Paulo Med J. 133(2):101-8, 2015
                                      4. Wilson RD et al: Pre-conception folic acid and multivitamin supplementation for the primary and secondary prevention of neural tube defects and other folic acid-sensitive congenital anomalies. J Obstet Gynaecol Can. 37(6):534-52, 2015
                                      5. Wilson RD et al: Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can. 36(10):927-42, 2014
                                      6. Copp AJ et al: Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 12(8):799-810, 2013
                                      7. Youngblood ME et al: 2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. Birth Defects Res A Clin Mol Teratol. 97(10):658-63, 2013
                                      8. Johnson S et al: Exencephaly: a first-trimester diagnosis. Ultrasound Q. 28(3):209-11, 2012
                                      9. Obeidi N et al: The natural history of anencephaly. Prenat Diagn. 30(4):357-60, 2010
                                      10. Stothard KJ et al: Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA. 301(6):636-50, 2009
                                      11. Tutschek B et al: Virtual reality ultrasound imaging of the normal and abnormal fetal central nervous system. Ultrasound Obstet Gynecol. 34(3):259-67, 2009
                                      12. De Wals P et al: Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 357(2):135-42, 2007
                                      13. Copp AJ: Neurulation in the cranial region--normal and abnormal. J Anat. 207(5):623-35, 2005
                                      14. Wald NJ: Folic acid and the prevention of neural-tube defects. N Engl J Med. 350(2):101-3, 2004
                                      15. Cafici D et al: First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence. J Ultrasound Med. 22(10):1075-9; quiz 1080-1, 2003
                                      16. Matsumoto A et al: Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly. Anat Embryol (Berl). 205(1):7-18, 2002
                                      17. Becker R et al: Sonographic markers of exencephaly at 9 + 3 weeks of gestation. Ultrasound Obstet Gynecol. 16(6):582-4, 2000
                                      18. Hata T et al: Three-dimensional sonographic features of fetal central nervous system anomaly. Acta Obstet Gynecol Scand. 79(8):635-9, 2000
                                      19. Chatzipapas IK et al: The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol. 13(3):196-9, 1999
                                      20. Johnson SP et al: Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 9(1):14-6, 1997
                                      21. Sepulveda W et al: Crown-chin length in normal and anencephalic fetuses at 10 to 14 weeks' gestation. Am J Obstet Gynecol. 176(4):852-5, 1997
                                      22. Timor-Tritsch IE et al: Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. J Matern Fetal Med. 5(4):182-5, 1996
                                      23. Wilkins-Haug L et al: Progression of exencephaly to anencephaly in the human fetus--an ultrasound perspective. Prenat Diagn. 11(4):227-33, 1991
                                      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

                                                  • Exencephaly-anencephaly sequence
                                                • Definitions

                                                  • Exencephaly is precursor to anencephaly, part of sequence of destruction of exposed neural tissue

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Consider

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Fleurke-Rozema JH et al: Timing of detection of anencephaly in the Netherlands. Prenat Diagn. 35(5):483-5, 2015
                                                                          2. Karaman A et al: Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. Genet Couns. 26(1):77-9, 2015
                                                                          3. Pelizzari E et al: Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. Sao Paulo Med J. 133(2):101-8, 2015
                                                                          4. Wilson RD et al: Pre-conception folic acid and multivitamin supplementation for the primary and secondary prevention of neural tube defects and other folic acid-sensitive congenital anomalies. J Obstet Gynaecol Can. 37(6):534-52, 2015
                                                                          5. Wilson RD et al: Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can. 36(10):927-42, 2014
                                                                          6. Copp AJ et al: Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 12(8):799-810, 2013
                                                                          7. Youngblood ME et al: 2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. Birth Defects Res A Clin Mol Teratol. 97(10):658-63, 2013
                                                                          8. Johnson S et al: Exencephaly: a first-trimester diagnosis. Ultrasound Q. 28(3):209-11, 2012
                                                                          9. Obeidi N et al: The natural history of anencephaly. Prenat Diagn. 30(4):357-60, 2010
                                                                          10. Stothard KJ et al: Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA. 301(6):636-50, 2009
                                                                          11. Tutschek B et al: Virtual reality ultrasound imaging of the normal and abnormal fetal central nervous system. Ultrasound Obstet Gynecol. 34(3):259-67, 2009
                                                                          12. De Wals P et al: Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 357(2):135-42, 2007
                                                                          13. Copp AJ: Neurulation in the cranial region--normal and abnormal. J Anat. 207(5):623-35, 2005
                                                                          14. Wald NJ: Folic acid and the prevention of neural-tube defects. N Engl J Med. 350(2):101-3, 2004
                                                                          15. Cafici D et al: First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence. J Ultrasound Med. 22(10):1075-9; quiz 1080-1, 2003
                                                                          16. Matsumoto A et al: Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly. Anat Embryol (Berl). 205(1):7-18, 2002
                                                                          17. Becker R et al: Sonographic markers of exencephaly at 9 + 3 weeks of gestation. Ultrasound Obstet Gynecol. 16(6):582-4, 2000
                                                                          18. Hata T et al: Three-dimensional sonographic features of fetal central nervous system anomaly. Acta Obstet Gynecol Scand. 79(8):635-9, 2000
                                                                          19. Chatzipapas IK et al: The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol. 13(3):196-9, 1999
                                                                          20. Johnson SP et al: Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 9(1):14-6, 1997
                                                                          21. Sepulveda W et al: Crown-chin length in normal and anencephalic fetuses at 10 to 14 weeks' gestation. Am J Obstet Gynecol. 176(4):852-5, 1997
                                                                          22. Timor-Tritsch IE et al: Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. J Matern Fetal Med. 5(4):182-5, 1996
                                                                          23. Wilkins-Haug L et al: Progression of exencephaly to anencephaly in the human fetus--an ultrasound perspective. Prenat Diagn. 11(4):227-33, 1991