Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2512-2518

  Wu, Jianhua ^a   Springett, Anna ^a   Morris, Joan K ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Mosaicism; Robertsonian translocation; Survival; Trisomy 13; Trisomy 18

Indexed keywords

ARTICLE; CHILD; CHROMOSOME MOSAICISM; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; EDWARDS SYNDROME; FEMALE; GESTATIONAL AGE; HUMAN; INFANT; LIVE BIRTH; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SEX DIFFERENCE; SURVIVAL RATE; SURVIVAL TIME; TREND STUDY; TRISOMY 13; UNITED KINGDOM;

ROBERTSONIA;

MOSAICISM; ROBERTSONIAN TRANSLOCATION; SURVIVAL; TRISOMY 13; TRISOMY 18;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; ENGLAND; FEMALE; HUMANS; MALE; REGISTRIES; RISK FACTORS; SURVIVAL ANALYSIS; TRISOMY; WALES;

EID: 84884980167     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36127     Document Type: Article

References (31)

1. Alberman E, Mutton D, Morris JK. 2012. Cytological and epidemiological findings in trisomies 13, 18 and 21: England and Wales 2004-2009. Am J Med Genet A 158A:1145-1150.
2. Baty BJ, Blackburn BL, Carey JC. 1994. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175-188.
3. Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. 2002. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 39:e54.
4. Carter PE, Pearn JH, Bell J, Martin N, Anderson NG. 1985. Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin Genet 27:59-61.
5. Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. 1996. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 75:F38-F41.
6. Ferguson-Smith MA. 1962. Abnormal sex ratios in the autosomal trisomy syndromes. Lancet 2:357-358.
7. 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.
8. 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). Am J Cardiol 93:801-803.
9. Hsiao CC, Tsao LY, Chen HN, Chiu HY, Chang WC. 2009. Changing clinical presentations and survival pattern in trisomy 18. Pediatr Neonatol 50:147-151.
10. Irving C, Richmond S, Wren C, Longster C, Embleton ND. 2011. Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Mater Fetal Neonatal Med 24:137-141.
11. 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 Med Genet A 146A:1372-1380.
12. Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. 2006. Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment. Am J Med Genet A 140A:937-944.
13. Lin HY, Lin SP, Chen YJ, Hsu CH, Kao HA, Chen MR, Hung HY, Ho CS, Chang JH, Huang FY, Tsai TC, Lin DS, Chan WT. 2007. Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int 49:380-386.
14. Lin H, Lin S, Chen Y. 2006. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet Part A 140A:945-951.
15. Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, Kajino H, Matsuura H, Mori K, Matsuoka R, Nakanishi T. 2011. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet Part A 155A:2641-2646.
16. Magenis RE, Hecht F, Milham S Jr. 1968. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival. J Pediatr 73:222-228.
17. Mankinen CB, Sears JW. 1976. Trisomy 13 in a female over 5 years of age. J Med Genet 13:157-161.
18. Mehta L, Shannon RS, Duckett DP, Young ID. 1986. Trisomy 18 in a 13 year old girl. J Med Genet 23:256-257.
19. Morris JK. 2011. The National Down Syndrome Cytogenetic Register for England and Wales 2010 Annual Report. Barts and The London School of Medicine and Dentistry. Queen Mary University of London.
20. Naguib KK, Al-Awadi Sa, Moussa Ma, Bastaki L, Gouda S, Redha Ma, Mustafa F, Tayel SM, Abulhassan SA, Murthy DS. 1999. Trisomy 18 in Kuwait. Int J Epidemiol 28:711-716.
21. Nembhard WN, Waller DK, Sever LE, Canfield MA. 2001. Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995-1997. Teratology 64:267-275.
22. Niedrist D, Riegel M. 2006. Survival with trisomy 18-Data from Switzerland. Am J Med Genet Part A 959A:952-959.
23. Rasmussen S, Wong L, Yang Q. 2003. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777-784.
24. Root S, Carey JC. 1994. Survival in trisomy 18. Am J Med Genet 49:170-174.
25. Savva GM, Morris JK. 2009. Ascertainment and accuracy of Down syndrome cases reported in congenital anomaly registers in England and Wales. Arch Dis Child Fetal Neonatal Ed 94:F23-F27.
26. Smith A, Field B, Learoyd BM. 1989. Trisomy 18 at age 21 years. Am J Med Genet 34:338-339.
27. 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.
28. Weber WW. 1967. Survival and the sex ratio in trisomy 17-18. Am J Hum Genet 19:369-377.
29. Wyllie JP, Wright MJ, Burn J, Hunter S. 1994. Natural history of trisomy 13. Arch Dis Child 71:343-345.
30. Young ID, Cook JP, Mehta L. 1986. Changing demography of trisomy 18. Arch Dis Child 61:1035-1036.
31. 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.