Charlotte Dubucs, Anthony Caillet, Félix Frémont, Laurane Delteil, Van N'Go, Amanda Julie Neville, Elisa Ballardini, Helen Dolk, Maria Loane, Ester Garne, Babak Khoshnood, Nathalie Lelong, Anke Rissmann, Mary O'Mahony, Anna Pierini, Miriam Gatt, Jorieke Bergman, Maciej Robert Krawczynski, Anna Latos Bielenska, Luis Javier Echevarría González de Garibay, Clara Cavero-Carbonell, Marie-Claude Addor, David Tucker, Sue Jordan, Elly Den Hond, Vera Nelen, Ingeborg Barisic, Florence Rouget, Hanitra Randrianaivo, Jonathan Hoareau, Isabelle Perthus, Caroline Hurault-Delarue, Monique Courtade-Saïdi, Christine Damase-Michel
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引用次数: 0
Abstract
Background
Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.
Methods
Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.
Results
The prevalence of total COA was 3.47/10,000 births (95% CI [3.61–3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%–25% of COA depending on their class.
Conclusions
This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.
背景 先天性眼部异常(COA)是高收入国家儿童视力受损的最常见原因之一。本研究旨在描述参与 EUROmediCAT 联盟的欧洲人群先天性视力异常登记处(EUROCAT)所记录的各种先天性视力异常的发病率。 方法 这项描述性流行病学研究纳入了来自 19 个 EUROmediCAT 登记处和一个医疗保健数据库(EFEMERIS)的数据。COA病例包括活产、胎龄20周以上的胎儿畸形和因胎儿畸形而终止妊娠。 结果 COA 的总患病率为 3.47/10,000(95% CI [3.61-3.82]),根据登记册的不同,患病率从 1.41 到 13.46/10,000 不等。在 COA 病例中,先天性晶状体异常是最常见的异常(31%),其中一半以上是单眼异常(仅出现一种眼部异常)。无/小眼症是第二常见的先天性角膜异常(24%),其中四分之三是多发性畸形(与眼外大畸形有关)。在单个 COA 病例中,58 例是产前诊断的(4%),其中 58% 是在怀孕后三个月诊断的。已知的 COA 遗传原因占 COA 的 2.5%-25%,具体取决于其类别。 结论 这是欧洲第一项描述 COA 的研究。该研究提供的详细发病率数据可改善不同类别 COA 的筛查和早期诊断。由于 COA 非常罕见,因此对大量人群进行流行病学监测和准确的临床描述至关重要。
期刊介绍:
The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks.
Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.