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Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
- Source :
- AMERICAN JOURNAL OF MEDICAL GENETICS PART A, r-FISABIO. Repositorio Institucional de Producción Científica, instname, Springett, A, Wellesley, D, Greenlees, R, Loane, M, Addor, M-C, Arriola, L, Bergman, J, Cavero-Carbonell, C, Csaky-Szunyogh, M, Draper, E S, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Lynch, C, Dias, C M, 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, J K 2015, ' 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, vol. 167, no. 12, pp. 3062-3069 . https://doi.org/10.1002/ajmg.a.37355, r-FISABIO: Repositorio Institucional de Producción Científica, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), American Journal of Medical Genetics. Part A, 167(12), 3062-3069. Wiley
- Publication Year :
- 2015
- Publisher :
- Wiley-Liss Inc., 2015.
-
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.
- Subjects :
- Adult
Heart Defects, Congenital
Male
SEX-DIFFERENCES
Time Factors
Adolescent
TRISOMIES
Pregnancy Complications/diagnosis
Gestational Age
Trisomy
Nervous System Malformations
Europe/epidemiology
Congenital Abnormalities
Nervous System Malformations/diagnosis
Young Adult
Pregnancy
Prenatal Diagnosis
Prevalence
Humans
trisomy 18
MALFORMATIONS
DOWN-SYNDROME
Registries
Fetal Death
trisomy 13
Chromosomes, Human, Pair 18/genetics
Chromosomes, Human, Pair 13
MORTALITY
cardiac anomalies
Registries/statistics & numerical data
Infant, Newborn
NATURAL-HISTORY
DEFECTS
Prognosis
Trisomy/genetics
Congenital Abnormalities/diagnosis
Europe
Pregnancy Complications
Patau syndrome
SURVIVAL
Heart Defects, Congenital/diagnosis
MATERNAL AGE
Chromosomes, Human, Pair 13/genetics
Female
Chromosomes, Human, Pair 18
Trisomy 18 Syndrome
Edwards syndrome
Subjects
Details
- ISSN :
- 15524825
- Database :
- OpenAIRE
- Journal :
- AMERICAN JOURNAL OF MEDICAL GENETICS PART A, r-FISABIO. Repositorio Institucional de Producción Científica, instname, Springett, A, Wellesley, D, Greenlees, R, Loane, M, Addor, M-C, Arriola, L, Bergman, J, Cavero-Carbonell, C, Csaky-Szunyogh, M, Draper, E S, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Lynch, C, Dias, C M, 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, J K 2015, ' 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, vol. 167, no. 12, pp. 3062-3069 . https://doi.org/10.1002/ajmg.a.37355, r-FISABIO: Repositorio Institucional de Producción Científica, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), American Journal of Medical Genetics. Part A, 167(12), 3062-3069. Wiley
- Accession number :
- edsair.pmid.dedup....7cc43a08912dbefaa9547491ea728bbf