Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study

被引：30

作者：

Garne, Ester ^{[1
]}

Rissmann, Anke ^{[2
]}

Addor, Marie-Claude ^{[3
]}

Barisic, Ingeborg ^{[4
]}

Bergman, Jorieke ^{[5
]}

Braz, Paula ^{[6
]}

Cavero-Carbonell, Clara ^{[7
]}

Draper, Elizabeth S. ^{[8
]}

Gatt, Miriam ^{[9
]}

Haeusler, Martin ^{[10
]}

Klungsoyr, Kari ^{[11
,12
]}

Kurinczuk, Jennifer J. ^{[13
]}

Lelong, Nathalie ^{[14
]}

Luyt, Karen ^{[15
]}

Lynch, Catherine ^{[16
]}

O'Mahony, Mary T. ^{[17
]}

Mokoroa, Olatz ^{[18
]}

Nelen, Vera ^{[19
]}

Neville, Amanda J. ^{[20
,21
]}

Pierini, Anna ^{[22
]}

Randrianaivo, Hanitra ^{[23
]}

Rankin, Judith ^{[24
]}

Rouget, Florence ^{[25
]}

Schaub, Bruno ^{[26
]}

Tucker, David ^{[27
]}

Verellen-Dumoulin, Christine ^{[28
]}

Wellesley, Diana ^{[29
,30
]}

Wiesel, Awi ^{[31
]}

Zymak-Zakutnia, Nataliia ^{[32
]}

Lanzoni, Monica ^{[33
]}

Morris, Joan K. ^{[34
]}

机构：

[1] Hosp Lillebaelt, Dept Paediat, Kolding, Denmark

[2] Otto von Guericke Univ, Malformat Monitoring Ctr Saxony Anhalt, Magdeburg, Germany

[3] Univ Hosp Ctr CHUV, Dept Woman Mother Child, Lausanne, Switzerland

[4] Univ Zagreb, Sch Med, Childrens Hosp Zagreb, Zagreb, Croatia

[5] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[6] Natl Inst Hlth Doutor Ricardo Jorge, Dept Epidemiol, Lisbon, Portugal

[7] Fdn Promot Hlth & Biomed Res Valencian Reg, Rare Dis Res Unit, Valencia, Spain

[8] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England

[9] Directorate Hlth Informat & Res, Tal Pieta, Malta

[10] Med Univ Graz, Graz, Austria

[11] Norwegian Inst Publ Hlth, Div Mental & Phys Hlth, Bergen, Norway

[12] Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway

[13] Univ Oxford, Natl Perinatal Epidemiol Unit, Congenital Anomaly Register Oxfordshire Berkshire, Oxford, England

[14] Paris Descartes Univ, Obstet Perinatal & Pediat Epidemiol Res Team Epop, Paris Registry Congenital Anomalies,UMR 1153, Ctr Epidemiol & Stat,Sorbonne Paris Cite,Inserm, Paris, France

[15] Univ Bristol, South West Congenital Anomaly Register, Bristol, Avon, England

[16] Hlth Serv Execut South, Dept Publ Hlth, Dublin, Ireland

[17] Hlth Serv Execut, Dept Publ Hlth, Kilkenny, Ireland

[18] Biodonostia Res Inst, Publ Hlth Div, San Sebastian, Spain

[19] PIH, Antwerp, Belgium

[20] Univ Ferrara, IMER Registry, Emilia Romagna Registry Birth Defects, Ferrara, Italy

[21] Azienda Osped Univ Ferrara, Ferrara, Italy

[22] CNR, Fdn Toscana Gabriele Monasterio, Inst Clin Physiol, Tuscany Registry Congenital Defects, Pisa, Italy

[23] Registre Malformat Congenitales Reunion, St Pierre, Ile De La Reuni, France

[24] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne, Tyne & Wear, England

[25] Univ Hosp Rennes, Dept Pediat, Brittany Registry Congenital Malformat, Rennes, France

[26] Univ Hosp Martinique, Maison Femme Mere & Enfant, French West Indies Registry, Registre Malformat Antilles REMALAN, Fort De France, France

[27] Publ Hlth Wales, Congenital Anomaly Register & Informat Serv Wales, Cardiff, S Glam, Wales

[28] Inst Pathol & Genet, Ctr Human Genet, Charleroi, Belgium

[29] Univ Hosp Southampton, Fac Med, Southampton, Hants, England

[30] Wessex Clin Genet Serv, Southampton, Hants, England

[31] Univ Med Ctr Mainz, Ctr Child & Adolescence Med, Mainz Model Birth Registry, Mainz, Germany

[32] Khmelnytsky City Childrens Hosp, OMNI Net Ukraine, Khmelnytsky, Ukraine

[33] European Commiss, DG Joint Res Ctr, Ispra, Italy

[34] Queen Mary Univ London, Wolfson Inst Prevent Med, London, England

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2018年 / 61卷 / 09期

关键词：

Septo-optic dysplasia; Prevalence; Population based; Maternal age; Associated anomalies; EUROCAT; NERVE HYPOPLASIA; PRETERM BIRTH; GASTROSCHISIS; ANOMALIES; EUROPE; RISK;

D O I：

10.1016/j.ejmg.2018.05.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.

引用

页码：483 / 488

页数：6

共 25 条

[1] Septo-Optic Dysplasia: Antenatal Risk Factors and Clinical Features in a Regional Study [J].