Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3062-3069

  Springett, Anna ^a   Wellesley, Diana ^b   Greenlees, Ruth ^c   Loane, Maria ^c   Addor, Marie Claude ^d   Arriola, Larraitz ^e   Bergman, Jorieke ^f   Cavero Carbonell, Clara ^g   Csaky Szunyogh, Melinda ^h   Draper, Elizabeth S ⁱ   Garne, Ester ^j   Gatt, Miriam ^k   Haeusler, Martin ^l   Khoshnood, Babak ^m   Klungsoyr, Kari ⁿ   Lynch, Catherine ^o   Dias, Carlos Matias ^p   Mcdonnell, Robert ^o   Nelen, Vera ^q   O'Mahony, Mary ^o   Pierini, Anna ^r   Queisser Luft, Annette ^s   Rankin, Judith ^t   Rissmann, Anke ^u   Rounding, Catherine ^v   Stoianova, Sylvia ^w   Tuckerz, David ^x   Zymak Zakutnia, Natalya ^y   Morris, Joan K ^a   more..

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF ULSTER   (United Kingdom)

^d Division of Medical Genetics   (Switzerland)

^e BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g Rare Diseases Research Area   (Spain)

^h Office of the Chief Medical Officer   (Hungary)

ⁱ UNIVERSITY OF LEICESTER   (United Kingdom)

^j KOLDING HOSPITAL   (Denmark)

^k Department of Health Information and Research ^*  (Malta)

^l MEDICAL UNIVERSITY OF GRAZ   (Austria)

^m INSERM   (France)

ⁿ UNIVERSITY OF BERGEN   (Norway)

^o HEALTH SERVICE EXECUTIVE   (Ireland)

^p Centro de Estudos e Registo de a C   (Portugal)

^q Provincial Institute for Hygiene   (Belgium)

^r INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^s UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^t NEWCASTLE UNIVERSITY   (United Kingdom)

^u UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^v UNIVERSITY OF OXFORD   (United Kingdom)

^w ST MICHAEL'S HOSPITAL   (United Kingdom)

^x PUBLIC HEALTH WALES   (United Kingdom)

^y OMNI Net Ukraine and Khmelnytsky Perinatal Center   (Ukraine)

more..

Author keywords

Cardiac anomalies; Edwards syndrome; Patau syndrome; Trisomy 13; Trisomy 18

Indexed keywords

ABDOMINAL WALL DEFECT; AORTA COARCTATION; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CLEFT FACE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DIAPHRAGM HERNIA; DISEASE ASSOCIATION; DISEASE REGISTRY; DISEASE SEVERITY; DOWN SYNDROME; EBSTEIN ANOMALY; ESOPHAGUS ATRESIA; EUROPE; FALLOT TETRALOGY; FEMALE; FETUS DEATH; GREAT VESSELS TRANSPOSITION; HOLOPROSENCEPHALY; HUMAN; HYDROCEPHALUS; HYPOPLASTIC LEFT HEART SYNDROME; KARYOTYPE; LIMB MALFORMATION; LUNG VEIN DRAINAGE ANOMALY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; OMPHALOCELE; POLYDACTYLY; POPULATION RESEARCH; PREGNANCY OUTCOME; PREVALENCE; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; SEX DIFFERENCE; STENOSIS; SYNDACTYLY; TRICUSPID VALVE ATRESIA; TRISOMY 13; TRISOMY 18; ADOLESCENT; ADULT; CHROMOSOME 13; CHROMOSOME 18; CLINICAL TRIAL; CONGENITAL ABNORMALITIES; GENETICS; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; MULTICENTER STUDY; NERVOUS SYSTEM MALFORMATIONS; NEWBORN; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; PROGNOSIS; REGISTER; STATISTICS AND NUMERICAL DATA; TIME FACTOR; TRISOMY; YOUNG ADULT;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CONGENITAL ABNORMALITIES; EUROPE; FEMALE; FETAL DEATH; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; NERVOUS SYSTEM MALFORMATIONS; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; PREVALENCE; PROGNOSIS; REGISTRIES; TIME FACTORS; TRISOMY; YOUNG ADULT;

EID: 84959345428     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37355     Document Type: Article

References (20)

1. Badner JA, Siebert WK, Garver KL, Chakravarti A. 1990. A genetic study of Hirschsprung disease. Am J Hum Genet 46:568-580.
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. Boghossian NS, Hansen NI, Bell EF, Stoll BJ, Murray JC, Carey JC, Adams-Chapman I, Shankaran S, Walsh MC, Laptook AR, Faix RG, Newman NS, Hale EC, Das A, Wilson LD, Hensman AM, Grisby C, Collins MV, Vasil DM, Finkle J, Maffett D, Ball MB, Lacy CB, Bara R, Higgins RD. Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network 2014. Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. Pediatrics 133:226-235.
4. Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. 1996. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 75:F38.
5. Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, Saker DM. 1998. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 80:213-217.
6. Freeman SB, Torfs CP, Romitti PA, Royle MH, Druschel C, Hobbs CA, Sherman SL. 2009. Congenital gastrointestinal defects in Down syndrome: A report from the Atlanta and National Down Syndrome Projects. Clin Genet 75:180-184.
7. Greenlees R, Neville A, Addor MC, Amar E, Arriola L, Bakker M, Barisic I, Boyd PA, Calzolari E, Doray B, Draper E, Vollset SE, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos-Bielenska A, Martinez-Frias ML, Materna-Kiryluk A, Dias CM, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Wertelecki W. 2011. Paper 6: EUROCAT member registries: Organization and activities. Birth Defects Res A Clin Mol Teratol 91:S51-S100.
8. Ieiri S, Higashi M, Teshiba R, Saeki I, Esumi G, Akiyoshi J, Nakatsuji T, Taguchi T. 2009. Clinical features of Hirschsprung's disease associated with Down syndrome: A 30-year retrospective nationwide survey in Japan. J Ped Surg 44:2347-2351.
9. Kallen B, Mastroiacovo P, Robert E. 1996. Major congenital malformations in Down syndrome. Am J Med Genet 65:160-166.
10. 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 140:937-944.
11. Lary JM, Paulozzi LJ. 2001. Sex differences in the prevalence of human birth defects: A population-based study. Teratology 64:237-251.
12. Loane M, Dolk H, Garne E, Greenlees R. EUROCAT Working Group 2011. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies. Birth Defects Res A Clin Mol Teratol 91:S23-S30.
13. Loane M, Morris JK, Addor MC, Arriola L, Budd J, Doray B, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr Melve K, Latos-Bielenska A, McDonnell B, Mullaney C, O'Mahony M, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Salvador J, Tucker D, Wellesley D, Yevtushok L, Dolk H. 2013. Twenty-year trend in the prevalence of Down syndrome and other trisomies in Europe: Impact of maternal age and prenatal screening. Eur J Hum Genet 21:27-33.
14. Morris JK, Garne E, Wellesley D, Addor M-C, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos- Bielenska A, Mullaney C, Nelen V, Neville A, O'Mahony M, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rounding C, Sipek A, Tucker D, Stoianova S, de Walle H, Yevtushok L, Loane M, Dolk H. 2014. Major congenital anomalies in babies born with down syndrome: A EUROCAT population-based registry study. Am J Med Genet Part A 164:2979-2986.
15. 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 140:1749-1756.
16. Rasmussen SA, Wong LC, Yang Q, May KM, Friedman JM. 2003. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777-784.
17. 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.
18. Tennant P, Samarasekera SD, Pless-Mulloli T, Rankin J. 2011. Sex differences in the prevalence of congenital anomalies: A population based study. Birth Defects Res A Clin Mol Teratol 91A:894-901.
19. Wu J, Springett A, Morris JK. 2013. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) in England and Wales: 2004-2011. Am J Med Genet A 161:2512-2518.
20. Wu J, Morris JK. 2013. The population prevalence of Down's syndrome in England and Wales in 2011. Eur J Hum Genet 21:1016-1019.