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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. Kancherla V et al: Modeling shows high potential of folic acid-fortified salt to accelerate global prevention of major neural tube defects. Birth Defects Res. 112(18):1461-74, 2020
                                      2. Sepulveda W et al: An unusual first-trimester ultrasound presentation of the acrania-anencephaly sequence: the "Turkish turban" sign. J Ultrasound Med. 39(4):829-32, 2020
                                      3. Szkodziak P et al: The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages. Arch Gynecol Obstet. 302(3):619-28, 2020
                                      4. Wertaschnigg D et al: Ultrasound appearances of the acrania-anencephaly sequence at 10 to 14weeks' gestation. J Ultrasound Med. 39(9):1695-700, 2020
                                      5. Wang L et al: Whole-exome sequencing identifies damaging de novo variants in anencephalic cases. Front Neurosci. 13:1285, 2019
                                      6. Kancherla V et al: A 2017 global update on folic acid-preventable spina bifida and anencephaly. Birth Defects Res. 110(14):1139-47, 2018
                                      7. Martins Santana EF et al: Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. J Ultrason. 18(74):240-6, 2018
                                      8. Fleurke-Rozema JH et al: Timing of detection of anencephaly in the Netherlands. Prenat Diagn. 35(5):483-5, 2015
                                      9. Karaman A et al: Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. Genet Couns. 26(1):77-9, 2015
                                      10. 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
                                      11. 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
                                      12. Wilson RD et al: Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can. 36(10):927-42, 2014
                                      13. Johnson S et al: Exencephaly: a first-trimester diagnosis. Ultrasound Q. 28(3):209-11, 2012
                                      14. Obeidi N et al: The natural history of anencephaly. Prenat Diagn. 30(4):357-60, 2010
                                      15. 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
                                      16. 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
                                      17. 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
                                      18. Copp AJ: Neurulation in the cranial region--normal and abnormal. J Anat. 207(5):623-35, 2005
                                      19. Wald NJ: Folic acid and the prevention of neural-tube defects. N Engl J Med. 350(2):101-3, 2004
                                      20. 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
                                      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. Kancherla V et al: Modeling shows high potential of folic acid-fortified salt to accelerate global prevention of major neural tube defects. Birth Defects Res. 112(18):1461-74, 2020
                                                                          2. Sepulveda W et al: An unusual first-trimester ultrasound presentation of the acrania-anencephaly sequence: the "Turkish turban" sign. J Ultrasound Med. 39(4):829-32, 2020
                                                                          3. Szkodziak P et al: The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages. Arch Gynecol Obstet. 302(3):619-28, 2020
                                                                          4. Wertaschnigg D et al: Ultrasound appearances of the acrania-anencephaly sequence at 10 to 14weeks' gestation. J Ultrasound Med. 39(9):1695-700, 2020
                                                                          5. Wang L et al: Whole-exome sequencing identifies damaging de novo variants in anencephalic cases. Front Neurosci. 13:1285, 2019
                                                                          6. Kancherla V et al: A 2017 global update on folic acid-preventable spina bifida and anencephaly. Birth Defects Res. 110(14):1139-47, 2018
                                                                          7. Martins Santana EF et al: Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. J Ultrason. 18(74):240-6, 2018
                                                                          8. Fleurke-Rozema JH et al: Timing of detection of anencephaly in the Netherlands. Prenat Diagn. 35(5):483-5, 2015
                                                                          9. Karaman A et al: Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. Genet Couns. 26(1):77-9, 2015
                                                                          10. 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
                                                                          11. 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
                                                                          12. Wilson RD et al: Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can. 36(10):927-42, 2014
                                                                          13. Johnson S et al: Exencephaly: a first-trimester diagnosis. Ultrasound Q. 28(3):209-11, 2012
                                                                          14. Obeidi N et al: The natural history of anencephaly. Prenat Diagn. 30(4):357-60, 2010
                                                                          15. 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
                                                                          16. 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
                                                                          17. 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
                                                                          18. Copp AJ: Neurulation in the cranial region--normal and abnormal. J Anat. 207(5):623-35, 2005
                                                                          19. Wald NJ: Folic acid and the prevention of neural-tube defects. N Engl J Med. 350(2):101-3, 2004
                                                                          20. 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