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

Barisic, Ingeborg
; 
Odak, Ljubica
; 
Loane, Maria
; 
Garne, Ester
; 
Wellesley, Diana
; 
Calzolari, Elisa
; 
Dolk, Helen
; 
Addor, Marie-Claude
; 
Arriola, Larraitz
; 
Bergman, Jorieke
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Author
Barisic, Ingeborg
 Odak, Ljubica
 Loane, Maria
 Garne, Ester
 Wellesley, Diana
 Calzolari, Elisa
 Dolk, Helen
 Addor, Marie-Claude
 Arriola, Larraitz
 Bergman, Jorieke
 Bianca, Sebastiano
 Doray, Berenice
 Khoshnood, Babak
 Klungsoyr, Kari
 McDonnell, Bob
 Pierini, Anna
 Rankin, Judith
 Rissmann, Anke
 Rounding, Catherine
 Queisser-Luft, Annette
 Scarano, Gioacchino
 Tucker, David
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Date
08/01/2014
Date Submitted
Keywords
GENETICS
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PUBLIC HEALTH DEPARTMENT
HEALTH IMPROVEMENT
CONGENITAL ANOMALY
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https://hdl.handle.net/10147/313523
Abstract
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.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038/ejhg.2013.287.
Language
en
Citation
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. 2014: Eur. J. Hum. Genet.
ISSN
1476-5438
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ISBN
DOI
10.1038/ejhg.2013.287
PMID
24398798
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