Abstract：
OBJECTIVE: To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period.
METHODS: Retrospective population-based registry study.
METHODS: All maternity units in Paris, France, from 2010 to 2020.
METHODS: A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.
METHODS: The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.
METHODS: The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: Retrospective population-based registry study.
METHODS: All maternity units in Paris, France, from 2010 to 2020.
METHODS: A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.
METHODS: The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.
METHODS: The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：评估先天性眼畸形（CEA）的患病率和趋势以及10年的产前诊断率。
方法：基于人群的回顾性注册研究。
方法：巴黎的所有产科，法国,从2010年到2020年。
方法：在所有活产或死胎中检测到的115例CEA队列，妊娠22周后,和终止妊娠。
方法：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。
方法：CEAs的总患病率和产前诊断比例，和他们的进化。
结果：CEAs的患病率为4.1（95％CI3.4-5.0）例，范围在3.1和5.7之间，每10000名新生儿。CEAs在23.5%的病例中被产前诊断。CEA为双侧51例（44.3%），单侧43例（37.4%），缺失或未知21例（18.3%）。在那些有CEA的人中，20.9％有遗传异常，53.0％有至少一个其他眼外异常。在产前发现时，15例(55.6%)为双侧CEA，8例（29.6％）为单侧，其余4例漏诊。与遗传异常相关的CEA的产前诊断率，至少1例其他畸形的CEA病例和孤立的CEA病例占29.2%，26.2%和13.3%，分别。
结论：总的来说，在研究期间观察到115例CEA，代表每10000例新生儿中4.1例的总患病率。我国人群产前CEA的总体检出率为23.5%,对于孤立的CEA病例，这一比例降至13.3%。
方法：基于人群的回顾性注册研究。
方法：巴黎的所有产科，法国,从2010年到2020年。
方法：在所有活产或死胎中检测到的115例CEA队列，妊娠22周后,和终止妊娠。
方法：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。
方法：CEAs的总患病率和产前诊断比例，和他们的进化。
结果：CEAs的患病率为4.1（95％CI3.4-5.0）例，范围在3.1和5.7之间，每10000名新生儿。CEAs在23.5%的病例中被产前诊断。CEA为双侧51例（44.3%），单侧43例（37.4%），缺失或未知21例（18.3%）。在那些有CEA的人中，20.9％有遗传异常，53.0％有至少一个其他眼外异常。在产前发现时，15例(55.6%)为双侧CEA，8例（29.6％）为单侧，其余4例漏诊。与遗传异常相关的CEA的产前诊断率，至少1例其他畸形的CEA病例和孤立的CEA病例占29.2%，26.2%和13.3%，分别。
结论：总的来说，在研究期间观察到115例CEA，代表每10000例新生儿中4.1例的总患病率。我国人群产前CEA的总体检出率为23.5%,对于孤立的CEA病例，这一比例降至13.3%。
