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Triploidy
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Partial mole
          • Definitions

            • 69 chromosomes (entire extra haploid set)
              • Diandric triploidy = extra set is paternal (more common)
              • Digynic triploidy = extra set is maternal

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Microscopic Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Fleischer J et al: Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 3(6):406-10, 2015
                                  2. 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
                                  3. Joergensen MW et al: Triploid pregnancies: genetic and clinical features of 158 cases. Am J Obstet Gynecol. 211(4):370.e1-19, 2014
                                  4. Nicolaides KH et al: Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther. 35(3):212-7, 2014
                                  5. Lakovschek IC et al: Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 155A(11):2626-33, 2011
                                  6. McWeeney DT et al: Pregnancy complicated by triploidy: a comparison of the three karyotypes. Am J Perinatol. 26(9):641-5, 2009
                                  7. Kagan KO et al: Screening for triploidy by the risk algorithms for trisomies 21, 18 and 13 at 11 weeks to 13 weeks and 6 days of gestation. Prenat Diagn. 28(13):1209-13, 2008
                                  8. Blaicher W et al: Dandy-Walker malformation as sonographic marker for fetal triploidy. Ultraschall Med. 23(2):129-33, 2002
                                  9. Giannattasio M et al: Preeclampsia and fetal triploidy: a rarely reported association in nephrologic literature. J Nephrol. 15(1):74-8, 2002
                                  10. Daniel A et al: Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat Diagn. 21(12):1034-48, 2001
                                  11. Genest DR: Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. Int J Gynecol Pathol. 20(4):315-22, 2001
                                  12. Spencer K et al: Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn. 20(6):495-9, 2000
                                  13. Mittal TK et al: Triploidy: antenatal sonographic features with post-mortem correlation. Prenat Diagn. 18(12):1253-62, 1998
                                  14. Jauniaux E et al: Partial mole and triploidy: screening patients with first-trimester spontaneous abortion. Obstet Gynecol. 88(4 Pt 1):616-9, 1996
                                  15. Jauniaux E et al: Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol. 88(6):983-9, 1996
                                  16. Lockwood C et al: Sonographic features of the triploid fetus. Am J Obstet Gynecol. 157(2):285-7, 1987
                                  17. Crane JP et al: Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 4(10):519-24, 1985
                                  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

                                          • Synonyms

                                            • Partial mole
                                          • Definitions

                                            • 69 chromosomes (entire extra haploid set)
                                              • Diandric triploidy = extra set is paternal (more common)
                                              • Digynic triploidy = extra set is maternal

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Consider

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Fleischer J et al: Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 3(6):406-10, 2015
                                                                  2. 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
                                                                  3. Joergensen MW et al: Triploid pregnancies: genetic and clinical features of 158 cases. Am J Obstet Gynecol. 211(4):370.e1-19, 2014
                                                                  4. Nicolaides KH et al: Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther. 35(3):212-7, 2014
                                                                  5. Lakovschek IC et al: Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 155A(11):2626-33, 2011
                                                                  6. McWeeney DT et al: Pregnancy complicated by triploidy: a comparison of the three karyotypes. Am J Perinatol. 26(9):641-5, 2009
                                                                  7. Kagan KO et al: Screening for triploidy by the risk algorithms for trisomies 21, 18 and 13 at 11 weeks to 13 weeks and 6 days of gestation. Prenat Diagn. 28(13):1209-13, 2008
                                                                  8. Blaicher W et al: Dandy-Walker malformation as sonographic marker for fetal triploidy. Ultraschall Med. 23(2):129-33, 2002
                                                                  9. Giannattasio M et al: Preeclampsia and fetal triploidy: a rarely reported association in nephrologic literature. J Nephrol. 15(1):74-8, 2002
                                                                  10. Daniel A et al: Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat Diagn. 21(12):1034-48, 2001
                                                                  11. Genest DR: Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. Int J Gynecol Pathol. 20(4):315-22, 2001
                                                                  12. Spencer K et al: Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn. 20(6):495-9, 2000
                                                                  13. Mittal TK et al: Triploidy: antenatal sonographic features with post-mortem correlation. Prenat Diagn. 18(12):1253-62, 1998
                                                                  14. Jauniaux E et al: Partial mole and triploidy: screening patients with first-trimester spontaneous abortion. Obstet Gynecol. 88(4 Pt 1):616-9, 1996
                                                                  15. Jauniaux E et al: Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol. 88(6):983-9, 1996
                                                                  16. Lockwood C et al: Sonographic features of the triploid fetus. Am J Obstet Gynecol. 157(2):285-7, 1987
                                                                  17. Crane JP et al: Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 4(10):519-24, 1985