Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study

Corentin Maillet; Lucie Guilbaud; Isabelle Monier; Babak Khoshnood; Emmanuel Bui Quoc; Anais Dugas; Nathalie Lelong; Jean-Marie Jouannic

doi:10.1111/1471-0528.17817

Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study

BJOG. 2024 Mar 25. doi: 10.1111/1471-0528.17817. Online ahead of print.

Authors

Corentin Maillet¹, Lucie Guilbaud¹, Isabelle Monier², Babak Khoshnood², Emmanuel Bui Quoc³, Anais Dugas¹, Nathalie Lelong², Jean-Marie Jouannic¹

Affiliations

¹ Department of Fetal Medicine, Sorbonne University, AP-HP Sorbonne University, Trousseau Hospital, Paris, France.
² Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), INSERM, Paris, France.
³ Service d'Ophtalmologie, Hôpital Robert-Debré, Paris, France.

PMID: 38528322
DOI: 10.1111/1471-0528.17817

Abstract

Objective: To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period.

Design: Retrospective population-based registry study.

Setting: All maternity units in Paris, France, from 2010 to 2020.

Population: 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.

Main outcome measures: 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.

Keywords: anophthalmia; cataract; congenital eye anomalies; microphthalmia; prenatal diagnosis; ultrasound.