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Trisomy 18
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Trisomy 18 (T18)
          • Synonyms

            • Edwards syndrome
          • Definitions

            • Autosomal trisomy of chromosome 18

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. ePub, 2016
                                2. Subramaniam A et al: Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A. ePub, 2016
                                3. Meyer RE et al: Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 170(4):825-37, 2015
                                4. Russo FM et al: Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival. Am J Med Genet A. 170(2):329-36, 2015
                                5. Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. ePub, 2015
                                6. De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
                                7. Driscoll DA et al: Screening for fetal aneuploidy and neural tube defects. Genet Med. 11(11):818-21, 2009
                                8. Hsiao CC et al: Changing clinical presentations and survival pattern in trisomy 18. Pediatr Neonatol. 50(4):147-51, 2009
                                9. Tuuli MG et al: Prevalence and likelihood ratios for aneuploidy in fetuses diagnosed prenatally with isolated congenital cardiac defects. Am J Obstet Gynecol. 201(4):390, 2009
                                10. Bronsteen R et al: Second-trimester sonography and trisomy 18. J Ultrasound Med. 23(2):233-40, 2004
                                11. Bronsteen R et al: Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands. J Ultrasound Med. 23(2):241-5, 2004
                                12. Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
                                13. Yeo L et al: Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med. 22(6):581-90; quiz 591-2, 2003
                                14. Brumfield CG et al: Ultrasound findings and multiple marker screening in trisomy 18. Obstet Gynecol. 95(1):51-4, 2000
                                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

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Trisomy 18 (T18)
                                        • Synonyms

                                          • Edwards syndrome
                                        • Definitions

                                          • Autosomal trisomy of chromosome 18

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. ePub, 2016
                                                              2. Subramaniam A et al: Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A. ePub, 2016
                                                              3. Meyer RE et al: Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 170(4):825-37, 2015
                                                              4. Russo FM et al: Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival. Am J Med Genet A. 170(2):329-36, 2015
                                                              5. Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. ePub, 2015
                                                              6. De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
                                                              7. Driscoll DA et al: Screening for fetal aneuploidy and neural tube defects. Genet Med. 11(11):818-21, 2009
                                                              8. Hsiao CC et al: Changing clinical presentations and survival pattern in trisomy 18. Pediatr Neonatol. 50(4):147-51, 2009
                                                              9. Tuuli MG et al: Prevalence and likelihood ratios for aneuploidy in fetuses diagnosed prenatally with isolated congenital cardiac defects. Am J Obstet Gynecol. 201(4):390, 2009
                                                              10. Bronsteen R et al: Second-trimester sonography and trisomy 18. J Ultrasound Med. 23(2):233-40, 2004
                                                              11. Bronsteen R et al: Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands. J Ultrasound Med. 23(2):241-5, 2004
                                                              12. Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
                                                              13. Yeo L et al: Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med. 22(6):581-90; quiz 591-2, 2003
                                                              14. Brumfield CG et al: Ultrasound findings and multiple marker screening in trisomy 18. Obstet Gynecol. 95(1):51-4, 2000