Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2634-2640

  Bruns, Deborah ^a  

^a SOUTHERN ILLINOIS UNIVERSITY   (United States)

Author keywords

Medical conditions; Patau syndrome; Physical characteristics; Trisomy 13

Indexed keywords

ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EAR MALFORMATION; FEEDING DISORDER; FEMALE; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; MICROCEPHALY; PATENT DUCTUS ARTERIOSUS; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SURVIVAL RATE; SURVIVAL TIME; TRISOMY 13;

ADOLESCENT; ADULT; BIRTH WEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CONGENITAL ABNORMALITIES; DATA COLLECTION; FEEDING AND EATING DISORDERS OF CHILDHOOD; FEMALE; GESTATIONAL AGE; HOSPITALIZATION; HUMANS; INFANT; MALE; MATERNAL AGE; MIDDLE AGED; PATERNAL AGE; PHYSICAL EXAMINATION; REPRODUCTIVE HISTORY; SOFTWARE; SURVIVAL RATE; TRISOMY; YOUNG ADULT;

EID: 80054932658     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34283     Document Type: Article

References (38)

1. Balci S, Güçer Ş, Orhan D, Karagöz T. 2008. A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome. Turk J Pediatr 50:595-599.
2. Baty BJ, Blackburn BL, Carey JC. 1994. Natural history of trisomy 18 and trisomyI. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175-188.
3. Brewer C, Holloway S, Stone D, Carothers A, Fitzpatrick D. 2002. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 39:54-56.
4. Bruns D. 2011. Presenting physical characteristics, medical conditions and developmental status of long-terms survivors with trisomy 9 mosaicism. Am J Med Genet Part A 155A:1033-1039.
5. Bruns DA, Foerster K. 2011. "We've been through it all together": Supports for parents with children with rare trisomy conditions. J Intellect Disabil Res 55:361-369.
6. Bruns DA. 2010. Neonatal experiences of newborns with full Trisomy 18. Adv Neonatal Care 10:25-31.
7. Bruns DA. 2008. Pregnancy and birth history of newborns with Trisomy 18 orA pilot study. Am J Med Genet Part A 146A:321-326.
8. Carey J. 2010. Trisomy 18 and trisomy 13 syndromes. In: SB, Cassidy, JE, Allanson, editors. Management of genetic syndromes, 3rd edition. Hoboken, NJ: Wiley-Blackwell.
9. Cleves MA, Ghaffar S, Zhao W, Mosley BS, Hobbs CA. 2003. Clinical and Molecular Teratology Special Issue: Congenital Malformations Surveillance Report: A Report from the National Birth Defects Prevention Network. Birth Defects Res Part A 67:662-668.
10. Courtwright AM, Laughon MM, Doron MW. 2010. Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered lethal. J Perinat DOI: 10.1038/jp.2010.124.
11. Crider KS, Olney RS, Cragan JD. 2008. Trisomies 13 andPopulation prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet Part A 146A:820-826.
12. Duarte AC, Menezes AI, Devens ES, Roth JM, Garcias GL, Martino-Roth MG. 2004. Patau syndrome with a long survival. Genet Mol Res 3:288-292.
13. Forrester MB, Merz RD. 2003. First-year mortality rates for selected birth defects, Hawaii, 1986-1999. Am J Med Genet Part A 119A:311-318.
14. Goldstein H, Nielsen KG. 1988. Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet 34:366-372.
15. Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM. 2004. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Amer J Cardiol 93:801-803.
16. Hsu H-F, Hou J-W. 2007. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet Part A 143A:1739-1748.
17. Iliopoulos D, Sekerli E, Vassiliou G, Sidiropoulou V, Topalidis A, Dimopoulou D, Voyiatzis N. 2006. Patau syndrome with a long survival (146 months). A clinical report and review of the literature. Am J Med Genet Part A 140A:92-93.
18. Irving C, Richmond S, Wren C, Longster C, Embleton ND. 2011. Changes in fetal prevalence and outcome for trisomies 13 andA population-based study over 23 years. J Matern Fetal Neonatal Med 24:137-141.
19. Janvier A, Okah F, Farlow B, Lantos JD. 2011. An infant with trisomy 18 and a ventricular septal defect. Pediatrics 127:1-6.
20. Jones KL. 2006. Smith's recognizable patterns of human malformation, 6th edition. Philadelphia, PA: Elsevier Saunders.
21. Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y, Nakajima Y, Endo D, Tsuchiya K, Sato H, Kawakami T. 2008. Intensive cardiac management in patients with Trisomy 13 or Trisomy 18. Am J Genet Part A 146A:1372-1380.
22. Lin H, Lin S, Chen Y, Hung H, Kao H, Hsu C, Chen MR, Chang JH, Ho CS, Huang FY, Shyur SD, Lin DS, Lee HC. 2007. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet Part A 140A:945-951.
23. Locock L, Crawford J, Crawford J. 2005. The parents' journey: Continuing a pregnancy after a diagnosis of Patau's syndrome. BMJ 331:1186-1189.
24. Mercurio M. 2011. The role of a pediatric ethics committee in the NICU. J Perinatol 31:1-9.
25. Nembhard WN, Waller DK, Sever LE, Canfield MA. 2001. Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995-199. Teratology 64:267-275.
26. Parker M, Budd J, Draper E, Young I. 2003. Trisomy 13 and trisomy 18 in a defined population: Epidemiological, genetic and prenatal observations. Prenat Diagn 23:856-860.
27. Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. 2006. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet Part A 140A:1749-1756.
28. Rasmussen SA, Wong LC, Yang Q, May KM, Friedman JM. 2003. Population-based analyses of mortality in trisomy 13 & trisomy 18. Pediatrics 111:777-784.
29. Rios A, Furdon SA, Adams D, Clark DA. 2004. Recognizing the clinical features of trisomy 13 syndromes. Adv Neonatal Care 4:332-343.
30. Root S, Carey JC. 1994. Survival in trisomy 1. Am J Med Genet 49:170-174.
31. Savva GM, Walker K, Morris JK. 2010. The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 30:57-64.
32. Singh KST. 1990. Trisomy 13 (Patau's syndrome): A rare case of survival into adulthood. J Intellect Disabil Res 34:91-93.
33. SPSS. 2008. SPSS 16.0 for Windows. Chicago, IL: SPSS, Inc.
34. Sweeney H, Pelegano J. 2000. Wilms tumor in a child with trisomy 13. J Pediatr Hematol Oncol 22:171-172.
35. Tunca Y, Kadandale JS, Pivnick EK. 2001. Long-term survival in Patau syndrome. Clin Dysmorphol 10:149-150.
36. Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, King T, Noblin SJ, Waller DK, Hecht JT. 2010. Survival of Texas infants born with trisomies 21, 18 and 13. Am J Med Genet Part A 152A:360-366.
37. Wyllie JP, Wright MJ, Burn J, Hunter S. 1994. Natural history of trisomy 13. Arch Dis Child 71:343-345.
38. Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B. 1993. Trisomy 13 (Patau syndrome) with an 11 year survival. Clin Genet 43:46-50.