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Trisomy 13
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Trisomy 13 (T13)
          • Synonyms

            • Patau syndrome
          • Definitions

            • Autosomal trisomy of chromosome 13

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Other Modality Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
                                    2. 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
                                    3. Zhen L et al: The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13. Prenat Diagn. 39(12):1155-8, 2019
                                    4. Winn P et al: Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol. 38(7):788-96, 2018
                                    5. Santorum M et al: Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 49(6):714-20, 2017
                                    6. Barry SC et al: Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A. 167A(1):147-50, 2015
                                    7. 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
                                    8. Bruns DA et al: Nine children over the age of one year with full trisomy 13: a case series describing medical conditions. Am J Med Genet A. 164A(12):2987-95, 2014
                                    9. Verweij EJ et al: Non-invasive prenatal testing for trisomy 13: more harm than good? Ultrasound Obstet Gynecol. 44(1):112-4, 2014
                                    10. Geipel A et al: Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester. Ultrasound Obstet Gynecol. 35(5):535-9, 2010
                                    11. Solomon BD et al: Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet. 154C(1):146-8, 2010
                                    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 13 (T13)
                                            • Synonyms

                                              • Patau syndrome
                                            • Definitions

                                              • Autosomal trisomy of chromosome 13

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • Other Modality Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
                                                                      2. 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
                                                                      3. Zhen L et al: The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13. Prenat Diagn. 39(12):1155-8, 2019
                                                                      4. Winn P et al: Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol. 38(7):788-96, 2018
                                                                      5. Santorum M et al: Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 49(6):714-20, 2017
                                                                      6. Barry SC et al: Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A. 167A(1):147-50, 2015
                                                                      7. 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
                                                                      8. Bruns DA et al: Nine children over the age of one year with full trisomy 13: a case series describing medical conditions. Am J Med Genet A. 164A(12):2987-95, 2014
                                                                      9. Verweij EJ et al: Non-invasive prenatal testing for trisomy 13: more harm than good? Ultrasound Obstet Gynecol. 44(1):112-4, 2014
                                                                      10. Geipel A et al: Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester. Ultrasound Obstet Gynecol. 35(5):535-9, 2010
                                                                      11. Solomon BD et al: Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet. 154C(1):146-8, 2010