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

Hdl Handle:
http://hdl.handle.net/10147/313523
Title:
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Authors:
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
Citation:
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. 2014: Eur. J. Hum. Genet.
Journal:
European journal of human genetics : EJHG
Issue Date:
8-Jan-2014
URI:
http://hdl.handle.net/10147/313523
DOI:
10.1038/ejhg.2013.287
PubMed ID:
24398798
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
Keywords:
GENETICS
Local subject classification:
PUBLIC HEALTH DEPARTMENT; HEALTH IMPROVEMENT; CONGENITAL ANOMALY
ISSN:
1476-5438

Full metadata record

DC FieldValue Language
dc.contributor.authorBarisic, Ingeborgen_GB
dc.contributor.authorOdak, Ljubicaen_GB
dc.contributor.authorLoane, Mariaen_GB
dc.contributor.authorGarne, Esteren_GB
dc.contributor.authorWellesley, Dianaen_GB
dc.contributor.authorCalzolari, Elisaen_GB
dc.contributor.authorDolk, Helenen_GB
dc.contributor.authorAddor, Marie-Claudeen_GB
dc.contributor.authorArriola, Larraitzen_GB
dc.contributor.authorBergman, Joriekeen_GB
dc.contributor.authorBianca, Sebastianoen_GB
dc.contributor.authorDoray, Bereniceen_GB
dc.contributor.authorKhoshnood, Babaken_GB
dc.contributor.authorKlungsoyr, Karien_GB
dc.contributor.authorMcDonnell, Boben_GB
dc.contributor.authorPierini, Annaen_GB
dc.contributor.authorRankin, Judithen_GB
dc.contributor.authorRissmann, Ankeen_GB
dc.contributor.authorRounding, Catherineen_GB
dc.contributor.authorQueisser-Luft, Annetteen_GB
dc.contributor.authorScarano, Gioacchinoen_GB
dc.contributor.authorTucker, Daviden_GB
dc.date.accessioned2014-02-28T15:35:54Z-
dc.date.available2014-02-28T15:35:54Z-
dc.date.issued2014-01-08-
dc.identifier.citationPrevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. 2014: Eur. J. Hum. Genet.en_GB
dc.identifier.issn1476-5438-
dc.identifier.pmid24398798-
dc.identifier.doi10.1038/ejhg.2013.287-
dc.identifier.urihttp://hdl.handle.net/10147/313523-
dc.description.abstractOculo-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.-
dc.languageENG-
dc.language.isoenen
dc.rightsArchived with thanks to European journal of human genetics : EJHGen_GB
dc.subjectGENETICSen_GB
dc.subject.otherPUBLIC HEALTH DEPARTMENT-
dc.subject.otherHEALTH IMPROVEMENT-
dc.subject.otherCONGENITAL ANOMALY-
dc.titlePrevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.en_GB
dc.identifier.journalEuropean journal of human genetics : EJHGen_GB

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