Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Détails

ID Serval
serval:BIB_EEE76DD4ED5D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Périodique
European Journal of Human Genetics
Auteur(s)
Barisic I., Odak L., Loane M., Garne E., Wellesley D., Calzolari E., Dolk H., Addor M.C., Arriola L., Bergman J., Bianca S., Doray B., Khoshnood B., Klungsoyr K., McDonnell B., Pierini A., Rankin J., Rissmann A., Rounding C., Queisser-Luft A., Scarano G., Tucker D.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
22
Numéro
8
Pages
1026-1033
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.
Mots-clé
Animals, Extracellular Matrix/ultrastructure, Histological Techniques, Immunoassay/methods, Microscopy, Electron/methods, Staining and Labeling
Pubmed
Web of science
Création de la notice
16/01/2014 10:45
Dernière modification de la notice
03/03/2018 22:33
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