Seminars in Fetal & Neonatal Medicine
Volume 15, Issue 6 , Pages 313-318 , December 2010

Genetics and developmental pathology of twinning

  • Martin A. Weber

      Affiliations

    • Department of Paediatric Pathology, Great Ormond Street Hospital for Children, London, UK
  • ,
  • Neil J. Sebire

      Affiliations

    • Department of Paediatric Pathology, Great Ormond Street Hospital for Children, London, UK
    • Institute of Child Health, University College London, London, UK
    • Corresponding Author InformationCorresponding author. Address: Department of Paediatric Pathology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK. Tel.: +44 (0)20 7829 8663; fax: +44 (0)20 7829 7875.

References 

  1. Shur N. The genetics of twinning: from splitting eggs to breaking paradigms. Am J Med Genet Part C Semin Med Genet. 2009;151C:105–109
  2. Hall JG. Twinning: mechanisms and genetic implications. Curr Opin Genet Dev. 1996;6:343–347
  3. Benirschke K, Kim CK. Multiple pregnancy. N Eng J Med. 1973;288:1276–1284
  4. Machin G. Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: a review. Am J Med Genet Part C Semin Med Genet. 2009;151C:110–127
  5. Hall JG. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990;46:857–873
  6. Cote GB, Gyftodimou J. Twinning and mitotic crossing over: some possibilities and their implications. Am J Hum Genet. 1991;49:120–130
  7. Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA. 2005;102:10604–10609
  8. Burn J, Corney G. Zygosity determination and the types of twining. In:  MacGillivray I,  Campbell DM,  Thompson B editor. Twinning and twins. Chichester: Wiley; 1988;p. 7–25
  9. Derom C, Vlietinck R, Derom R, Van Den Berghe H, Thiery M. Increased monozygotic twinning rate after ovulation induction. Lancet. 1987;1:1236–1238
  10. Machin G. Familial monozygotic twinning: a report of seven pedigrees. Am J Med Genet Part C Semin Med Genet. 2009;151C:152–154
  11. Clayton-Smith J, Read AP, Donnai D. Monozygotic twinning and Wiedemann–Beckwith syndrome. Am J Med Genet. 1992;42:633–637
  12. Garabedian BH, Fraser FC. A familial association between twinning and upper neural tube defects. Am J Hum Genet. 1994;55:1050–1053
  13. In:  Gilbert-Barness E editors. Potter’s pathology of the fetus and infant. St Louis: Mosby; 1997;
  14. Baldwin VJ. Pathology of multiple pregnancy. New York: Springer-Verlag; 1994;
  15. Fisk NM, Duncombe GJ, Sullivan MH. The basic and clinical science of twin–twin transfusion syndrome. Placenta. 2009;30:379–390
  16. Bahtiyar MO, Dulay AT, Weeks BP, Friedman AH, Copel JA. Prevalence of congenital heart defects in monochorionic/diamniotic twin gestations: a systematic literature review. J Ultrasound Med. 2007;26:1491–1498
  17. Karatza AA, Wolfenden JL, Taylor MJ, Wee L, Fisk NM, Gardiner HM. Influence of twin–twin transfusion syndrome on fetal cardiovascular structure and function: prospective case–control study of 136 monochorionic twin pregnancies. Heart. 2002;88:271–277
  18. Spitz L. Conjoined twins. Prenat Diagn. 2005;25:814–819
  19. Edmonds LD, Layde PM. Conjoined twins in the United States, 1970–1977. Teratology. 1982;25:301–308
  20. Machin GA. Conjoined twins: implications for blastogenesis. Birth Defects Orig Artic Ser. 1993;29:141–179
  21. Cohen HL, Shapiro ML, Haller JO, Schwartz D. The multivessel umbilical cord: an antenatal indicator of possible conjoined twinning. J Clin Ultrasound. 1992;20:278–282
  22. Kapur RP, Jack RM, Siebert JR. Diamniotic placentation associated with omphalopagus conjoined twins: implications for a contemporary model of conjoined twinning. Am J Med Genet. 1994;52:188–195
  23. Metneki J, Czeizel A. Conjoined twins in Hungary, 1970–1986. Acta Genet Med Gemellol (Roma). 1989;38:285–299
  24. Gilbert-Barness E, Debich-Spicer D, Opitz JM. Conjoined twins: morphogenesis of the heart and a review. Am J Med Genet. 2003;120:568–582
  25. International Clearinghouse for Birth Defects Monitoring Systems . Conjoined twins – an epidemiological study based on 312 cases. Acta Genet Med Gemellol (Roma). 1991;40:325–335
  26. Mackenzie TC, Crombleholme TM, Johnson MP, et al. The natural history of prenatally diagnosed conjoined twins. J Pediatr Surg. 2002;37:303–309
  27. Chmait RH, Quintero RA. Operative fetoscopy in complicated monochorionic twins: current status and future direction. Curr Opin Obstet Gynecol. 2008;20:169–174
  28. Jelin E, Hirose S, Rand L, et al. Perinatal outcome of conservative management versus fetal intervention for twin reversed arterial perfusion sequence with a small acardiac twin. Fetal Diagn Ther. 2010;27:138–141
  29. Sebire NJ. Anomalous development in twins (including monozygotic duplication). In:  Kilby M,  Baker P,  Critchley H,  Field D editor. Multiple pregnancy. London: RCOG Press; 2006;p. 59–88
  30. Sato T, Kaneko K, Konuma S, Sato I, Tamada T. Acardiac anomalies: review of 88 cases in Japan. Asia Oceania J Obstet Gynaecol. 1984;10:45–52
  31. Healey MG. Acardia: predictive risk factors for the co-twin’s survival. Teratology. 1994;50:205–213
  32. Buntinx IM, Bourgeois N, Buytaert PM, Dumon JE. Acardiac amorphous twin with prune belly sequence in the co-twin. Am J Med Genet. 1991;39:453–457
  33. Wong AE, Sepulveda W. Acardiac anomaly: current issues in prenatal assessment and treatment. Prenat Diagn. 2005;25:796–806
  34. Jung JH, Graham JM, Schultz N, Smith DW. Congenital hydranencephaly/porencephaly due to vascular disruption in monozygotic twins. Pediatrics. 1984;73:467–469
  35. Murphy KW. Intrauterine death in a twin: implications for the survivor. In:  Ward RH,  Whittle M editor. Multiple pregnancy. London: RCOG Press; 1995;p. 218–230
  36. Liu S, Benirschke K, Scioscia AL, Mannino FL. Intrauterine death in multiple gestation. Acta Genet Med Gemellol. 1992;41:5–26
  37. Pinborg A, Loft A, Rasmussen S, et al. Neonatal outcome in a Danish national cohort of 3438 IVF/ICSI and 10,362 non-IVF/ICSI twins born between 1995 and 2000. Hum Reprod. 2004;19:435–441
  38. Chen CJ, Wang CJ, Yu MW, Lee TK. Perinatal mortality and prevalence of major congenital malformations of twins in Taipei city. Acta Genet Med Gemellol. 1992;41:197–203
  39. Ramos-Arroyo MA. Birth defects in twins: study in a Spanish population. Acta Genet Med Gemellol (Roma). 1991;40:337–344
  40. Li SJ, Ford N, Meister K, Bodurtha J. Increased risk of birth defects among children from multiple births. Birth Defects Res A Clin Mol Teratol. 2003;67:879–885
  41. Malone FD, Craigo SD, Chelmow D, D’Alton ME. Outcome of twin gestations complicated by a single anomalous fetus. Obstet Gynecol. 1996;88:1–5
  42. Jamar M, Lemarchal C, Lemaire V, Koulischer L, Bours V. A low rate of trisomy 21 in twin-pregnancies: a cytogenetics retrospective study of 278 cases. Genet Couns. 2003;14:395–400
  43. Powers WF, Kiely JL. The risks confronting twins: a national perspective. Am J Obstet Gynecol. 1994;170:456–461
  44. Liapis AE, Hassiakos DK, Panagopoulos PP. Perinatal morbidity and mortality rates in twin pregnancies – a 15-year review study from Athens. Acta Genet Med Gemellol (Roma). 1997;46:185–191
  45. Glinianaia SV, Pharoah P, Sturgiss SN. Comparative trends in cause-specific fetal and neonatal mortality in twin and singleton births in the North of England, 1982–1994. BJOG. 2000;107:452–460
  46. Kilpatrick SJ, Jackson R, Croughan-Minihane MS. Perinatal mortality in twins and singletons matched for gestational age at delivery at > or = 30 weeks. Am J Obstet Gynecol. 1996;174:66–71
  47. Derom R, Derom C, Vlietinck R. Placentation. In:  Keith LG,  Papiernik E,  Keith DM,  Luke B editor. Multiple pregnancy. New York: Parthenon Press; 1995;p. 113–128

PII: S1744-165X(10)00046-6

doi: 10.1016/j.siny.2010.06.002

Seminars in Fetal & Neonatal Medicine
Volume 15, Issue 6 , Pages 313-318 , December 2010