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

Ingeborg Barisic*, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Berenice Doray, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Catherine Rounding, Annette Queisser-LuftGioacchino Scarano, David Tucker

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

53 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1026-1033
Number of pages8
JournalEuropean Journal of Human Genetics
Volume22
Issue number8
DOIs
Publication statusPublished - Aug-2014

Keywords

  • oculo-auriculo-vertebral spectrum
  • epidemiology
  • congenital anomalies
  • Europe
  • DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM
  • GOLDENHAR-SYNDROME
  • HEMIFACIAL MICROSOMIA
  • OCULOAURICULOFRONTONASAL SYNDROME
  • ABNORMALITIES
  • DYSPLASIA
  • MANIFESTATIONS
  • OAVS
  • CLASSIFICATION
  • FERTILIZATION

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