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SHR Neuro Cancer Cardio Lipid Metab Microb
Springett, A; Wellesley, D; Greenlees, R; Loane, M; Addor, MC; Arriola, L; Bergman, J; Cavero-Carbonell, C; Csaky-Szunyogh, M; Draper, ES; Garne, E; Gatt, M; Haeusler, M; Khoshnood, B; Klungsoyr, K; Lynch, C; Dias, CM; 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; Morris, JK.
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Am J Med Genet A. 2015; 167A(12):3062-3069
Doi: 10.1002/ajmg.a.37355
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Haeusler Martin
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- Abstract:
- 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. © 2015 Wiley Periodicals, Inc.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Chromosomes, Human, Pair 13 - genetics
- Chromosomes, Human, Pair 18 - genetics
- Congenital Abnormalities - diagnosis
- Congenital Abnormalities - epidemiology
- Congenital Abnormalities - genetics
- Europe - epidemiology
- Female -
- Fetal Death -
- Gestational Age -
- Heart Defects, Congenital - diagnosis
- Heart Defects, Congenital - epidemiology
- Heart Defects, Congenital - genetics
- Humans -
- Infant, Newborn -
- Male -
- Nervous System Malformations - diagnosis
- Nervous System Malformations - epidemiology
- Nervous System Malformations - genetics
- Pregnancy -
- Pregnancy Complications - diagnosis
- Pregnancy Complications - epidemiology
- Pregnancy Complications - genetics
- Prenatal Diagnosis -
- Prevalence -
- Prognosis -
- Registries - statistics & numerical data
- Time Factors -
- Trisomy - genetics
- Trisomy 18 Syndrome -
- Young Adult -
- Find related publications in this database (Keywords)
- trisomy 18
- trisomy 13
- Edwards syndrome
- Patau syndrome
- cardiac anomalies