title: Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
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.
authors.affiliation: Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisic
authors.affiliation: Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
authors.forename: Ljubica
authors.initials: L
authors.lastname: Odak
authors.affiliation: EUROCAT Central Registry, Room 12L09, University of Ulster, Ulster, Northern Ireland, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Loane
authors.affiliation: Pediatric Department, Hospital Lillebaelt, Kolding, Denmark.
authors.forename: Ester
authors.initials: E
authors.lastname: Garne
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.affiliation: Registro IMER, Azienda Ospedaliero-Unifersitaria di Ferrara, Ferrara, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Calzolari
authors.affiliation: EUROCAT Central Registry, Room 12L09, University of Ulster, Ulster, Northern Ireland, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Dolk
authors.affiliation: Autonome de Genetique Medicale, Lausanne, Switzerland.
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.affiliation: Registro Anomalias Congenitas CAV, Direccion de Salud Publica, Donostia San Sebastian, Spain.
authors.forename: Larraitz
authors.initials: L
authors.lastname: Arriola
authors.affiliation: Eurocat Registration Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Jorieke
authors.initials: J
authors.lastname: Bergman
authors.affiliation: Genetica Medica, ARNAS Garibaldi, ARNAS Garibaldi, Catania, Italy.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.affiliation: Service de genetique Medicale, Hopitale de Hautepierre, Strasbourg Cedex, France.
authors.forename: Berenice
authors.initials: B
authors.lastname: Doray
authors.affiliation: Paris Registry of Congenital Malformations, INSERM U953, Maternite de Port-Royal, Paris, France.
authors.forename: Babak
authors.initials: B
authors.lastname: Khoshnood
authors.affiliation: Medical Birth Registry of Norway, Norwegian Institute of Public Health, and Department of Public Global Health and Primary Health Care, University of Bergen, Bergen, Norway.
authors.forename: Kari
authors.initials: K
authors.lastname: Klungsoyr
authors.affiliation: Health Information Unit, Health Service Executive, Dr Steevens Hospital, Dublin, Ireland.
authors.forename: Bob
authors.initials: B
authors.lastname: McDonnell
authors.affiliation: CNR Institute of Clinical Physiology, Pisa, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Pierini
authors.affiliation: Institute of Health and Society Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Judith
authors.initials: J
authors.lastname: Rankin
authors.affiliation: Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany.
authors.forename: Anke
authors.initials: A
authors.lastname: Rissmann
authors.affiliation: National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Rounding
authors.affiliation: Universitatskinderklinik Mainz, Mainz, Germany.
authors.forename: Annette
authors.initials: A
authors.lastname: Queisser-Luft
authors.affiliation: Registro Campano Difetti Congeniti, Azienda Ospedaliera "G Rummo", Benevento, Italy.
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.affiliation: Congenital Anomaly Register and Info Service Public Health Level 3 West Wing, Singleton Hospital, Wales, UK.
authors.forename: David
authors.initials: D
authors.lastname: Tucker
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology* / Q000209:etiology; D000328:Adult; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000453:epidemiology* / Q000209:etiology; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011159:Population Surveillance; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence; D012042:Registries; D012307:Risk Factors; D055815:Young Adult