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

I Barisic, L Odak, Maria Loane, E Garne, D Wellesley, E Calzolari, Helen Dolk, M-C Addor, L Arriola, J Bergman, S Bianca, B Doray, B Khoshnood, K Klungsoyr, R McDonnell, A Pierini, J Rankin, A Rissmann, C Rounding, A Queisser-Luft & 2 others G Scarano, D Tucker

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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.
LanguageEnglish
Pages1026-1033
JournalEuropean Journal of Human Genetics
Volume22
Early online date8 Jan 2014
DOIs
Publication statusPublished - 2014

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Prenatal Diagnosis
Goldenhar Syndrome
Ear
Registries
Parturition
Dermoid Cyst
Pregnancy
Assisted Reproductive Techniques
Ear Canal
Fetal Death
Congenital Heart Defects
Population
Epidemiologic Studies
Pathologic Constriction
Mothers
Congenital Microtia

Cite this

Barisic, I ; Odak, L ; Loane, Maria ; Garne, E ; Wellesley, D ; Calzolari, E ; Dolk, Helen ; Addor, M-C ; Arriola, L ; Bergman, J ; Bianca, S ; Doray, B ; Khoshnood, B ; Klungsoyr, K ; McDonnell, R ; Pierini, A ; Rankin, J ; Rissmann, A ; Rounding, C ; Queisser-Luft, A ; Scarano, G ; Tucker, D. / Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. In: European Journal of Human Genetics. 2014 ; Vol. 22. pp. 1026-1033.
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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.",
author = "I Barisic and L Odak and Maria Loane and E Garne and D Wellesley and E Calzolari and Helen Dolk and M-C Addor and L Arriola and J Bergman and S Bianca and B Doray and B Khoshnood and K Klungsoyr and R McDonnell and A Pierini and J Rankin and A Rissmann and C Rounding and A Queisser-Luft and G Scarano and D Tucker",
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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, R, Pierini, A, Rankin, J, Rissmann, A, Rounding, C, Queisser-Luft, A, Scarano, G & Tucker, D 2014, 'Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe', European Journal of Human Genetics, vol. 22, pp. 1026-1033. https://doi.org/10.1038/ejhg.2013.287

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. / Barisic, I; Odak, L; Loane, Maria; Garne, E; Wellesley, D; Calzolari, E; Dolk, Helen; Addor, M-C; Arriola, L; Bergman, J; Bianca, S; Doray, B; Khoshnood, B; Klungsoyr, K; McDonnell, R; Pierini, A; Rankin, J; Rissmann, A; Rounding, C; Queisser-Luft, A; Scarano, G; Tucker, D.

In: European Journal of Human Genetics, Vol. 22, 2014, p. 1026-1033.

Research output: Contribution to journalArticle

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T1 - Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

AU - Barisic, I

AU - Odak, L

AU - Loane, Maria

AU - Garne, E

AU - Wellesley, D

AU - Calzolari, E

AU - Dolk, Helen

AU - Addor, M-C

AU - Arriola, L

AU - Bergman, J

AU - Bianca, S

AU - Doray, B

AU - Khoshnood, B

AU - Klungsoyr, K

AU - McDonnell, R

AU - Pierini, A

AU - Rankin, J

AU - Rissmann, A

AU - Rounding, C

AU - Queisser-Luft, A

AU - Scarano, G

AU - Tucker, D

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AB - 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.

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JF - European Journal of Human Genetics

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