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

Détails

ID Serval
serval:BIB_3E598A79A666
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
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.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
167A
Numéro
12
Pages
3062-3069
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study
Publication Status: ppublish
Résumé
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.
Mots-clé
Adolescent, Adult, Chromosomes, Human, Pair 13/genetics, Chromosomes, Human, Pair 18/genetics, Congenital Abnormalities/diagnosis, Congenital Abnormalities/epidemiology, Europe/epidemiology, Female, Fetal Death, Gestational Age, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/epidemiology, Humans, Infant, Newborn, Male, Nervous System Malformations/diagnosis, Nervous System Malformations/epidemiology, Pregnancy, Pregnancy Complications/diagnosis, Pregnancy Complications/epidemiology, Prenatal Diagnosis, Prevalence, Prognosis, Registries/statistics & numerical data, Time Factors, Trisomy/genetics, Young Adult
Pubmed
Web of science
Création de la notice
26/01/2016 9:15
Dernière modification de la notice
20/08/2019 13:35
Données d'usage