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Anal Atresia
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Imperforate anus
                • Anorectal atresia
              • Definitions

                • High anal atresia: Above levator sling, no perineal fistula
                • Low anal atresia: Below levator sling, perineal opening

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Ahn JH et al: Accompanied anomalies in anal atresia or tracheo-esophageal fistula: comparison with or without VACTERL association. Birth Defects Res. ePub, 2021
                                      2. Su YM et al: Prenatal evaluation for detection of anorectal atresia: value of ultrasound. J Ultrasound Med. 38(6):1501-9, 2019
                                      3. Bronshtein M et al: Transient distention of right posterior located sigma, a new sonographic sign for the prenatal diagnosis of anal atresia. J Clin Ultrasound. 45(3):160-2, 2017
                                      4. Lau PE et al: Prenatal diagnosis and outcome of fetal gastrointestinal obstruction. J Pediatr Surg. 52(5):722-5, 2017
                                      5. Lee MY et al: Sonographic determination of type in a fetal imperforate anus. J Ultrasound Med. 35(6):1285-91, 2016
                                      6. Bischoff A et al: Update on the management of anorectal malformations. Pediatr Surg Int. 29(9):899-904, 2013
                                      7. Podberesky DJ et al: Magnetic resonance imaging of anorectal malformations. Magn Reson Imaging Clin N Am. 21(4):791-812, 2013
                                      8. Gindes L et al: 3-Dimensional demonstration of fetal anal canal and sphincter. Ultraschall Med. 33(7):E25-30, 2012
                                      9. Ochoa JH et al: Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. Ultrasound Obstet Gynecol. 39(5):521-7, 2012
                                      10. Novikova I et al: First trimester sonographic features of anorectal atresia: report of two cases. Prenat Diagn. 31(9):907-9, 2011
                                      11. Vijayaraghavan SB et al: Sonographic depiction of the fetal anus and its utility in the diagnosis of anorectal malformations. J Ultrasound Med. 30(1):37-45, 2011
                                      12. Zwink N et al: Parental risk factors and anorectal malformations: systematic review and meta-analysis. Orphanet J Rare Dis. 6:25, 2011
                                      13. Khatib N et al: Fetal bowel calcifications: a sign of anal atresia with rectourethral fistula. J Clin Ultrasound. 38(6):332-4, 2010
                                      14. Moon MH et al: In-utero development of the fetal anal sphincter. Ultrasound Obstet Gynecol. 35(5):556-9, 2010
                                      15. Rintala RJ et al: Imperforate anus: long- and short-term outcome. Semin Pediatr Surg. 17(2):79-89, 2008
                                      16. Rolle U et al: Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula. J Pediatr Surg. 43(4):e11-3, 2008
                                      17. Ben-Neriah Z et al: OEIS complex: prenatal ultrasound and autopsy findings. Ultrasound Obstet Gynecol. 29(2):170-7, 2007
                                      18. Escobar LF et al: Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review. Am J Med Genet A. 143A(22):2722-6, 2007
                                      19. Brantberg A et al: Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound Obstet Gynecol. 28(7):904-10, 2006
                                      20. Garel C et al: Contribution of fetal magnetic resonance imaging and amniotic fluid digestive enzyme assays to the evaluation of gastrointestinal tract abnormalities. Ultrasound Obstet Gynecol. 28(3):282-91, 2006
                                      21. Gilbert CE et al: Changing antenatal sonographic appearance of anorectal atresia from first to third trimesters. J Ultrasound Med. 25(6):781-4, 2006
                                      22. Pohl-Schickinger A et al: Echogenic foci in the dilated fetal colon may be associated with the presence of a rectourinary fistula. Ultrasound Obstet Gynecol. 28(3):341-4, 2006
                                      23. Kubiak R et al: Isolated imperforate anus in monozygotic twins: case report and implications. J Pediatr Surg. 40(3):E1-4, 2005
                                      24. Taipale P et al: First-trimester diagnosis of imperforate anus. Ultrasound Obstet Gynecol. 25(2):187-8, 2005
                                      25. Veyrac C et al: MRI of fetal GI tract abnormalities. Abdom Imaging. 29(4):411-20, 2004
                                      26. Lam YH et al: Sonographic features of anal atresia at 12 weeks. Ultrasound Obstet Gynecol. 19(5):523-4, 2002
                                      27. Sepulveda W et al: Prenatal diagnosis of enterolithiasis: a sign of fetal large bowel obstruction. J Ultrasound Med. 13(7):581-5, 1994
                                      28. Harris RD et al: Anorectal atresia: prenatal sonographic diagnosis. AJR Am J Roentgenol. 149(2):395-400, 1987
                                      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

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Synonyms

                                                    • Imperforate anus
                                                    • Anorectal atresia
                                                  • Definitions

                                                    • High anal atresia: Above levator sling, no perineal fistula
                                                    • Low anal atresia: Below levator sling, perineal opening

                                                  IMAGING

                                                  • General Features

                                                    • Ultrasonographic Findings

                                                      • MR Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Staging, Grading, & Classification

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Ahn JH et al: Accompanied anomalies in anal atresia or tracheo-esophageal fistula: comparison with or without VACTERL association. Birth Defects Res. ePub, 2021
                                                                          2. Su YM et al: Prenatal evaluation for detection of anorectal atresia: value of ultrasound. J Ultrasound Med. 38(6):1501-9, 2019
                                                                          3. Bronshtein M et al: Transient distention of right posterior located sigma, a new sonographic sign for the prenatal diagnosis of anal atresia. J Clin Ultrasound. 45(3):160-2, 2017
                                                                          4. Lau PE et al: Prenatal diagnosis and outcome of fetal gastrointestinal obstruction. J Pediatr Surg. 52(5):722-5, 2017
                                                                          5. Lee MY et al: Sonographic determination of type in a fetal imperforate anus. J Ultrasound Med. 35(6):1285-91, 2016
                                                                          6. Bischoff A et al: Update on the management of anorectal malformations. Pediatr Surg Int. 29(9):899-904, 2013
                                                                          7. Podberesky DJ et al: Magnetic resonance imaging of anorectal malformations. Magn Reson Imaging Clin N Am. 21(4):791-812, 2013
                                                                          8. Gindes L et al: 3-Dimensional demonstration of fetal anal canal and sphincter. Ultraschall Med. 33(7):E25-30, 2012
                                                                          9. Ochoa JH et al: Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. Ultrasound Obstet Gynecol. 39(5):521-7, 2012
                                                                          10. Novikova I et al: First trimester sonographic features of anorectal atresia: report of two cases. Prenat Diagn. 31(9):907-9, 2011
                                                                          11. Vijayaraghavan SB et al: Sonographic depiction of the fetal anus and its utility in the diagnosis of anorectal malformations. J Ultrasound Med. 30(1):37-45, 2011
                                                                          12. Zwink N et al: Parental risk factors and anorectal malformations: systematic review and meta-analysis. Orphanet J Rare Dis. 6:25, 2011
                                                                          13. Khatib N et al: Fetal bowel calcifications: a sign of anal atresia with rectourethral fistula. J Clin Ultrasound. 38(6):332-4, 2010
                                                                          14. Moon MH et al: In-utero development of the fetal anal sphincter. Ultrasound Obstet Gynecol. 35(5):556-9, 2010
                                                                          15. Rintala RJ et al: Imperforate anus: long- and short-term outcome. Semin Pediatr Surg. 17(2):79-89, 2008
                                                                          16. Rolle U et al: Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula. J Pediatr Surg. 43(4):e11-3, 2008
                                                                          17. Ben-Neriah Z et al: OEIS complex: prenatal ultrasound and autopsy findings. Ultrasound Obstet Gynecol. 29(2):170-7, 2007
                                                                          18. Escobar LF et al: Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review. Am J Med Genet A. 143A(22):2722-6, 2007
                                                                          19. Brantberg A et al: Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound Obstet Gynecol. 28(7):904-10, 2006
                                                                          20. Garel C et al: Contribution of fetal magnetic resonance imaging and amniotic fluid digestive enzyme assays to the evaluation of gastrointestinal tract abnormalities. Ultrasound Obstet Gynecol. 28(3):282-91, 2006
                                                                          21. Gilbert CE et al: Changing antenatal sonographic appearance of anorectal atresia from first to third trimesters. J Ultrasound Med. 25(6):781-4, 2006
                                                                          22. Pohl-Schickinger A et al: Echogenic foci in the dilated fetal colon may be associated with the presence of a rectourinary fistula. Ultrasound Obstet Gynecol. 28(3):341-4, 2006
                                                                          23. Kubiak R et al: Isolated imperforate anus in monozygotic twins: case report and implications. J Pediatr Surg. 40(3):E1-4, 2005
                                                                          24. Taipale P et al: First-trimester diagnosis of imperforate anus. Ultrasound Obstet Gynecol. 25(2):187-8, 2005
                                                                          25. Veyrac C et al: MRI of fetal GI tract abnormalities. Abdom Imaging. 29(4):411-20, 2004
                                                                          26. Lam YH et al: Sonographic features of anal atresia at 12 weeks. Ultrasound Obstet Gynecol. 19(5):523-4, 2002
                                                                          27. Sepulveda W et al: Prenatal diagnosis of enterolithiasis: a sign of fetal large bowel obstruction. J Ultrasound Med. 13(7):581-5, 1994
                                                                          28. Harris RD et al: Anorectal atresia: prenatal sonographic diagnosis. AJR Am J Roentgenol. 149(2):395-400, 1987