ObjectiveTo estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10‐year period.DesignRetrospective population‐based registry study.SettingAll maternity units in Paris, France, from 2010 to 2020.PopulationA cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.MethodsThe total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.Main outcome measuresThe total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.ResultsThe prevalence of CEAs was 4.1 (95% CI 3.4–5.0) cases, ranging between 3.1 and 5.7 cases, per 10 000 births. CEAs were prenatally diagnosed in 23.5% of cases. CEAs were bilateral in 51 cases (44.3%), unilateral in 43 cases (37.4%) and missing or unknown in 21 cases (18.3%). Of those with CEAs, 20.9% had genetic anomalies and 53.0% had at least one other extraocular anomaly. When detected prenatally, CEAs were bilateral in 15 cases (55.6%), unilateral in eight cases (29.6%) and missing in the four remaining cases. The prenatal diagnosis rate of CEAs associated with genetic anomalies, CEA cases with at least one other malformation and isolated CEA cases were 29.2%, 26.2% and 13.3%, respectively.ConclusionsIn total, 115 cases of CEAs were observed during the study period, representing a total prevalence of 4.1 cases per 10 000 births. The overall prenatal detection rate of CEAs in our population was 23.5%, which dropped to 13.3% for isolated cases of CEAs.

中文翻译：

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先天性眼睛异常的患病率和产前诊断：一项基于人群的研究

目的估计 10 年期间先天性眼部异常 (CEA) 的患病率和趋势以及产前诊断率。设计基于人群的回顾性登记研究。设置法国巴黎所有产科单位，2010 年至 2020 年。人口队列 115 人在所有活产或死产、妊娠 22 周后以及终止妊娠的活产或死产中检测到 CEA 病例。方法使用 95% 泊松精确置信区间计算 CEA 总患病率和每种特定 CEA 的患病率。主要结果指标 CEA 总患病率结果 CEA 的患病率为每 10 000 名新生儿 4.1 例（95% CI 3.4–5.0），范围为 3.1 至 5.7 例。 23.5% 的病例进行了产前诊断。 CEA 为双侧 51 例（44.3%），单侧 43 例（37.4%），缺失或未知 21 例（18.3%）。在患有 CEA 的患者中，20.9% 存在遗传异常，53.0% 存在至少一种其他眼外异常。产前检测时，CEA 为双侧 15 例（55.6%），单侧 8 例（29.6%），其余 4 例缺失。伴有遗传异常的CEA、伴有至少一种其他畸形的CEA病例和孤立的CEA病例的产前诊断率分别为29.2%、26.2%和13.3%。 结论 研究期间总共观察到115例CEA，代表总患病率为每 10 000 名新生儿中 4.1 例。我们人群中 CEA 的总体产前检出率为 23.5%，孤立病例的 CEA 产前检出率为 13.3%。