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Obstetrics
Diagnosis
Aneuploidy
Trisomy 18
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. Glinianaia SV et al: Long-term survival of children born with congenital anomalies: a systematic review and meta-analysis of population-based studies. PLoS Med. 17(9):e1003356, 2020
                                2. Becker DA et al: Sensitivity of prenatal ultrasound for detection of trisomy 18. J Matern Fetal Neonatal Med. 32(22):3716-22, 2019
                                3. Goel N et al: Trisomy 13 and 18-prevalence and mortality-a multi-registry population based analysis. Am J Med Genet A. 179(12):2382-92, 2019
                                4. Hartwig TS et al: Non-invasive prenatal testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. Eur J Obstet Gynecol Reprod Biol. 226:35-9, 2018
                                5. Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. 47(6):698-704, 2016
                                6. 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. 170A(4):838-46, 2016
                                7. Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. 48(4):446-51, 2016
                                8. 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
                                9. 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
                                10. De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
                                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
                                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. Glinianaia SV et al: Long-term survival of children born with congenital anomalies: a systematic review and meta-analysis of population-based studies. PLoS Med. 17(9):e1003356, 2020
                                                              2. Becker DA et al: Sensitivity of prenatal ultrasound for detection of trisomy 18. J Matern Fetal Neonatal Med. 32(22):3716-22, 2019
                                                              3. Goel N et al: Trisomy 13 and 18-prevalence and mortality-a multi-registry population based analysis. Am J Med Genet A. 179(12):2382-92, 2019
                                                              4. Hartwig TS et al: Non-invasive prenatal testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. Eur J Obstet Gynecol Reprod Biol. 226:35-9, 2018
                                                              5. Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. 47(6):698-704, 2016
                                                              6. 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. 170A(4):838-46, 2016
                                                              7. Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. 48(4):446-51, 2016
                                                              8. 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
                                                              9. 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
                                                              10. De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
                                                              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