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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. Barry SC et al: Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A. 167A(1):147-50, 2015
                                    2. 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
                                    3. 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
                                    4. Verweij EJ et al: Non-invasive prenatal testing for trisomy 13: more harm than good? Ultrasound Obstet Gynecol. 44(1):112-4, 2014
                                    5. 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
                                    6. Solomon BD et al: Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet. 154C(1):146-8, 2010
                                    7. Morris JK et al: The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 146(7):827-32, 2008
                                    8. Papageorghiou AT et al: Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation. Am J Obstet Gynecol. 194(2):397-401, 2006
                                    9. Chen M et al: Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy. Prenat Diagn. 24(2):137-43, 2004
                                    10. Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
                                    11. Stewart TL: Screening for aneuploidy: the genetic sonogram. Obstet Gynecol Clin North Am. 31(1):21-33, 2004
                                    12. Chen M et al: Trisomy 13 manifested as hypoplastic left heart and other structural abnormalities. Prenat Diagn. 23(13):1102-3, 2003
                                    13. Tongsong T et al: Sonographic features of trisomy 13 at midpregnancy. Int J Gynaecol Obstet. 76(2):143-8, 2002
                                    14. Nyberg DA et al: Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med. 20(6):655-74, 2001
                                    15. Tongsong T et al: Prenatal sonographic diagnosis of holoprosencephaly. J Med Assoc Thai. 81(3):208-13, 1998
                                    16. Lehman CD et al: Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology. 194(1):217-22, 1995
                                    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. Barry SC et al: Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A. 167A(1):147-50, 2015
                                                                      2. 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
                                                                      3. 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
                                                                      4. Verweij EJ et al: Non-invasive prenatal testing for trisomy 13: more harm than good? Ultrasound Obstet Gynecol. 44(1):112-4, 2014
                                                                      5. 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
                                                                      6. Solomon BD et al: Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet. 154C(1):146-8, 2010
                                                                      7. Morris JK et al: The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 146(7):827-32, 2008
                                                                      8. Papageorghiou AT et al: Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation. Am J Obstet Gynecol. 194(2):397-401, 2006
                                                                      9. Chen M et al: Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy. Prenat Diagn. 24(2):137-43, 2004
                                                                      10. Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
                                                                      11. Stewart TL: Screening for aneuploidy: the genetic sonogram. Obstet Gynecol Clin North Am. 31(1):21-33, 2004
                                                                      12. Chen M et al: Trisomy 13 manifested as hypoplastic left heart and other structural abnormalities. Prenat Diagn. 23(13):1102-3, 2003
                                                                      13. Tongsong T et al: Sonographic features of trisomy 13 at midpregnancy. Int J Gynaecol Obstet. 76(2):143-8, 2002
                                                                      14. Nyberg DA et al: Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med. 20(6):655-74, 2001
                                                                      15. Tongsong T et al: Prenatal sonographic diagnosis of holoprosencephaly. J Med Assoc Thai. 81(3):208-13, 1998
                                                                      16. Lehman CD et al: Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology. 194(1):217-22, 1995