Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
Por:
Springett, A, Wellesley, D, Greenlees, R, Loane, M, Addor, M, Arriola, L, Bergman, J, Cavero-Carbonell, C, Csaky-Szunyogh, M, Draper, E, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Lynch, C, Dias, C, Mcdonnell, R, Nelen, V, O'Mahony, M, Pierini, A, Queisser-Luft, A, Rankin, J, Rissmann, A, Rounding, C, Stoianova, S, Tuckerz, D, Zymak-Zakutnia, N and Morris, J
Publicada:
1 dic 2015
Ahead of Print:
8 sep 2015
Resumen:
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95% CI: 4.7-5.0) and 1.9 (95% CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. (C) 2015 Wiley Periodicals, Inc.
Filiaciones:
Springett, A:
Wolfson Institute, Queen Mary University of London, London, United Kingdom
Wellesley, D:
Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, Southampton, United Kingdom
Greenlees, R:
Institute of Nursing Research, University of Ulster, Newtownabbey, United Kingdom
Loane, M:
Institute of Nursing Research, University of Ulster, Newtownabbey, United Kingdom
Addor, M:
Division of Medical Genetics, Lausanne, Switzerland
Arriola, L:
Public Health Division of Gipuzkoa, Instituto BIO-Donostia, Basque Government, CIBER Epidemiologia y Salud Publica - CIBERESP, Spain
Bergman, J:
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
:
Rare Diseases Research Area, FISABIO-Public Health, Valencia, Spain
Csaky-Szunyogh, M:
National Public Health and Medical Officer Service (NPHMOS), Budapest, Hungary
Draper, E:
Department of Health Sciences, University of Leicester, Leicester, United Kingdom
Garne, E:
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark
Gatt, M:
Department of Health Information and Research, Guardamangia, Malta
Haeusler, M:
Medical University of Graz, Graz, Austria
Khoshnood, B:
INSERM, Paris, France
Klungsoyr, K:
Department of Global Public Health and Primary Care, University of Bergen, Norway and Medical Birth Registry of Norway, Norwegian Institute of Public Health, Bergen, Norway
Lynch, C:
Health Service Executive, Kilkenny, Ireland
Dias, C:
Centro de Estudos e registo de A C, Lisbon, Portugal
Mcdonnell, R:
Health Service Executive, Dublin, Ireland
Nelen, V:
Provincial Institute for Hygiene, Antwerp, Belgium
O'Mahony, M:
Health Service Executive, Cork, Ireland
Pierini, A:
CNR Institute of Clinical Physiology, Pisa, Italy
Queisser-Luft, A:
University Medical Center of the Johannes Gutenberg University, Mainz, Germany
Rankin, J:
Institute of Health and Society, Newcastle University, Newcastle upon Tyne, United Kingdom
Rissmann, A:
Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Rounding, C:
University of Oxford, Oxford, United Kingdom
Stoianova, S:
St Michael's Hospital, Bristol, United Kingdom
Tuckerz, D:
Public Health Wales, Swansea, United Kingdom
Zymak-Zakutnia, N:
Wolfson Institute, Queen Mary University of London, London, United Kingdom
Morris, J:
Wolfson Institute, Queen Mary University of London, London, United Kingdom
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