Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases
Abstract Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye. Material and Methods In this multicentric retrospective cohort study, 264 fetus...
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2025-05-01
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| Series: | Acta Obstetricia et Gynecologica Scandinavica |
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| Online Access: | https://doi.org/10.1111/aogs.15085 |
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| author | Jorge Jiménez Cruz Paul Böckenhoff Laura Tascón Padrón Norah Emrich Philipp Kosian Brigitte Strizek Cristoph Berg Eva Weber Ulrich Gembruch Annegret Geipel |
| author_facet | Jorge Jiménez Cruz Paul Böckenhoff Laura Tascón Padrón Norah Emrich Philipp Kosian Brigitte Strizek Cristoph Berg Eva Weber Ulrich Gembruch Annegret Geipel |
| author_sort | Jorge Jiménez Cruz |
| collection | DOAJ |
| description | Abstract Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye. Material and Methods In this multicentric retrospective cohort study, 264 fetuses with ocular malformations from two tertiary referral centers for prenatal medicine were analyzed. Anophthalmia, microphthalmia, exophthalmos, hyper‐ or hypotelorism, cataract, aphakia, cyclopia, and retinal detachment were assessed, and their association with extraocular findings and genetic changes was investigated. Results The majority of the cases (99.2%) were non‐isolated and presented further extraocular findings. Most commonly, the brain and central nervous system (65.9%), the limbs and the heart (46.6% each) and the cranial anatomy (41.2%) were affected. Significant associations were found between exophthalmos and anomalies of the fetal skeletal system (OR = 4.8, 95% CI 1.6–14) and cranial malformations (OR = 3.3, 95% CI 1.5–7.4). Hypotelorism showed an increased risk of cardiac anomalies (OR = 1.8, 95% CI 1.1–3.5) and brain malformations (OR = 2.16, 95% CI 1.2–4.1), with holoprosencephaly being the most common one. Fetuses with microphthalmia were more likely to have anomalies in the renal system (OR = 2.3, 95% CI 1.2–4.3). In 51.4% of the cases, a genetic aberration could be found, among them most frequently trisomy 13. Conclusions There is a significant association between specific fetal eye anomalies and certain extraocular anomalies, as well as genetic changes. Systematic evaluation of the eye using the proposed protocol is simple to learn and highly reproducible and could help to concentrate diagnosis on a certain group of malformations. Data from this study could help to develop targeted diagnostic molecular tools. |
| format | Article |
| id | doaj-art-14e4d34e7ef24dd18b3d91a8185e1fa9 |
| institution | Kabale University |
| issn | 0001-6349 1600-0412 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wiley |
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| series | Acta Obstetricia et Gynecologica Scandinavica |
| spelling | doaj-art-14e4d34e7ef24dd18b3d91a8185e1fa92025-08-20T03:30:56ZengWileyActa Obstetricia et Gynecologica Scandinavica0001-63491600-04122025-05-01104585085910.1111/aogs.15085Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 casesJorge Jiménez Cruz0Paul Böckenhoff1Laura Tascón Padrón2Norah Emrich3Philipp Kosian4Brigitte Strizek5Cristoph Berg6Eva Weber7Ulrich Gembruch8Annegret Geipel9Department of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Cologne University Hospital Cologne GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyDepartment of Obstetrics and Prenatal Medicine Bonn University Hospital Bonn GermanyAbstract Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye. Material and Methods In this multicentric retrospective cohort study, 264 fetuses with ocular malformations from two tertiary referral centers for prenatal medicine were analyzed. Anophthalmia, microphthalmia, exophthalmos, hyper‐ or hypotelorism, cataract, aphakia, cyclopia, and retinal detachment were assessed, and their association with extraocular findings and genetic changes was investigated. Results The majority of the cases (99.2%) were non‐isolated and presented further extraocular findings. Most commonly, the brain and central nervous system (65.9%), the limbs and the heart (46.6% each) and the cranial anatomy (41.2%) were affected. Significant associations were found between exophthalmos and anomalies of the fetal skeletal system (OR = 4.8, 95% CI 1.6–14) and cranial malformations (OR = 3.3, 95% CI 1.5–7.4). Hypotelorism showed an increased risk of cardiac anomalies (OR = 1.8, 95% CI 1.1–3.5) and brain malformations (OR = 2.16, 95% CI 1.2–4.1), with holoprosencephaly being the most common one. Fetuses with microphthalmia were more likely to have anomalies in the renal system (OR = 2.3, 95% CI 1.2–4.3). In 51.4% of the cases, a genetic aberration could be found, among them most frequently trisomy 13. Conclusions There is a significant association between specific fetal eye anomalies and certain extraocular anomalies, as well as genetic changes. Systematic evaluation of the eye using the proposed protocol is simple to learn and highly reproducible and could help to concentrate diagnosis on a certain group of malformations. Data from this study could help to develop targeted diagnostic molecular tools.https://doi.org/10.1111/aogs.15085fetal eyefetal syndromesfetal ultrasoundocular malformationsorbital malformations |
| spellingShingle | Jorge Jiménez Cruz Paul Böckenhoff Laura Tascón Padrón Norah Emrich Philipp Kosian Brigitte Strizek Cristoph Berg Eva Weber Ulrich Gembruch Annegret Geipel Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases Acta Obstetricia et Gynecologica Scandinavica fetal eye fetal syndromes fetal ultrasound ocular malformations orbital malformations |
| title | Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases |
| title_full | Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases |
| title_fullStr | Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases |
| title_full_unstemmed | Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases |
| title_short | Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases |
| title_sort | sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases a retrospective multicenter analysis of 264 cases |
| topic | fetal eye fetal syndromes fetal ultrasound ocular malformations orbital malformations |
| url | https://doi.org/10.1111/aogs.15085 |
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