Department of Fetal Medicine, Sorbonne University, AP-HP Sorbonne University, Trousseau Hospital, Paris, France.
Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), INSERM, Paris, France.
BJOG. 2024 Sep;131(10):1385-1391. doi: 10.1111/1471-0528.17817. Epub 2024 Mar 25.
To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period.
Retrospective population-based registry study.
All maternity units in Paris, France, from 2010 to 2020.
A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.
The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.
The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.
The 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.
In 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.
评估 10 年来先天性眼部异常（CEAs）的患病率和趋势，以及产前诊断率。
回顾性基于人群的登记研究。
法国巴黎所有的妇产单位，时间为 2010 年至 2020 年。
所有活产或死产，妊娠 22 周后，以及终止妊娠的 115 例 CEA 检测病例。
使用 95%泊松精确置信区间计算 CEA 的总患病率和每种特定 CEA 的患病率。
CEAs 的总患病率、CEAs 的产前诊断率及其变化。
CEAs 的患病率为 4.1（95%CI 3.4-5.0）例/10000 例活产，范围为 3.1-5.7 例。23.5%的病例产前诊断为 CEA。51 例（44.3%）为双侧，43 例（37.4%）为单侧，21 例（18.3%）缺失或未知。有 CEA 的病例中，20.9%有遗传异常，53.0%有至少一种其他眼外异常。产前诊断为 CEA 的病例中，15 例（55.6%）为双侧，8 例（29.6%）为单侧，其余 4 例为缺失。与遗传异常相关的 CEA、至少有其他一种畸形的 CEA 病例和孤立性 CEA 病例的产前诊断率分别为 29.2%、26.2%和 13.3%。
在研究期间共观察到 115 例 CEA，总患病率为每 10000 例活产 4.1 例。我们人群中 CEA 的总体产前检出率为 23.5%，孤立性 CEA 病例的检出率降至 13.3%。
