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Ultraschall Med
DOI: 10.1055/a-2318-5464
DOI: 10.1055/a-2318-5464
Continuing Medical Education
Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact
Article in several languages: English | deutsch
Abstract
Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presence of the orbits and the lenses. However, in recent years, with the advent of high-resolution ultrasound technology and increasing knowledge of prenatal medicine and genetics, careful examination of the fetal eye has enabled the detection of many ocular malformations before birth. This article provides an overview of the anatomy related to the development of the fetal eye and covers the following conditions: hypertelorism, hypotelorism, exophthalmos, microphthalmos, coloboma, cataract, persistent hyperplastic primary vitreous, retinal detachment, dacryocystocele, and septooptic dysplasia, etc. It is designed to illustrate the spectrum of ocular malformations and their appearance on prenatal ultrasound and to discuss their clinical impact and association with various syndromes.
Publication History
Article published online:
07 June 2024
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Literatur
- 1 Merz E, Eichhorn KH, Kaisenberg von. et al. [Updated quality requirements regarding secondary differentiated ultrasound examination in prenatal diagnostics (= DEGUM level II) in the period from 18 + 0 to 21 + 6 weeks of gestation]. Ultraschall in Med 2012; 33: 593-596 DOI: 10.1055/s-0032-1325500.
- 2 Salomon LJ, Alfirevic Z, Berghella V. et al. ISUOG Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2022; 59: 840-856 DOI: 10.1002/uog.24888.
- 3 Prodan NC, Hoopmann M, Jonaityte G. et al. How to do a second trimester anomaly scan. Arch Gynecol Obstet 2023; 307: 1285-1290 DOI: 10.1007/s00404-022-06569-2.
- 4 Bundesausschuss G. Mutterschaftsrichtlinien. Im Internet: https://www.g-ba.de/richtlinien/19/
- 5 Goldstein I, Tamir A, Zimmer EZ. et al. Growth of the fetal orbit and lens in normal pregnancies. Ultrasound Obstet Gynecol 1998; 12: 175-179 DOI: 10.1046/j.1469-0705.1998.12030175.x.
- 6 Ondeck CL, Pretorius D, McCaulley J. et al. Ultrasonographic prenatal imaging of fetal ocular and orbital abnormalities. Surv Ophthalmol 2018; 63: 745-753 DOI: 10.1016/j.survophthal.2018.04.006.
- 7 Feldman N, Melcer Y, Levinsohn-Tavor O. et al. Prenatal ultrasound charts of orbital total axial length measurement (TAL): a valuable data for correct fetal eye malformation assessment. Prenat Diagn 2015; 35: 558-563 DOI: 10.1002/pd.4572.
- 8 Achiron R, Kreiser D, Achiron A. Axial growth of the fetal eye and evaluation of the hyaloid artery: in utero ultrasonographic study. Prenat Diagn 2000; 20: 894-899 DOI: 10.1002/1097-0223(200011)20:11<894::aid-pd9493>.0.co;2-j.
- 9 Viñals F, Ruiz P, Correa F. et al. Two‐dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum. Ultrasound Obstet Gynecol 2016; 48: 733-738 DOI: 10.1002/uog.15862.
- 10 Paladini D, Birnbaum R, Donarini G. et al. Assessment of fetal optic chiasm: an echoanatomic and reproducibility study. Ultrasound Obstet Gynecol 2016; 48: 727-732 DOI: 10.1002/uog.17227.
- 11 Alonso I, Azumendi G, Romero M. et al. Fetal optic chiasm: three steps for visualization and measurement on routine transabdominal ultrasound. Ultrasound Obstet Gynecol 2019; 54: 135-136 DOI: 10.1002/uog.19173.
- 12 Bault JP. Visualization of the fetal optic chiasma using three‐dimensional ultrasound imaging. Ultrasound Obstet Gynecol 2006; 28: 862-864 DOI: 10.1002/uog.3868.
- 13 Bault JP, Salomon LJ, Guibaud L. et al. Role of three‐dimensional ultrasound measurement of the optic tract in fetuses with agenesis of the septum pellucidum. Ultrasound Obstet Gynecol 2011; 37: 570-575 DOI: 10.1002/uog.8847.
- 14 Helfer TM, Peixoto AB, Tonni G. et al. Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography. Méd Ultrason 2016; 18: 378-385 DOI: 10.11152/mu.2013.2066.183.3du.
- 15 Vargo JD, Hasan A, Andrews BT. Identification and Management of Cranial Anomalies in Perinatology. Clin Perinatol 2018; 45: 699-715 DOI: 10.1016/j.clp.2018.07.008.
- 16 Erickson BP, Tse DT. Management of neonatal proptosis: A systematic review. Surv Ophthalmol 2014; 59: 378-392 DOI: 10.1016/j.survophthal.2013.11.002.
- 17 Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Méd Genet 2014; 57: 369-380 DOI: 10.1016/j.ejmg.2014.05.002.
- 18 Benacerraf BR, Bromley BS, Jelin AC. Anophthalmia and Microphthalmia. Am J Obstet Gynecol 2019; DOI: 10.1016/j.ajog.2019.08.016.
- 19 Blazer S, Zimmer EZ, Mezer E. et al. Early and late onset fetal microphthalmia. American journal of obstetrics and gynecology 2006; 194: 1354-1359 DOI: 10.1016/j.ajog.2005.11.010.
- 20 Gujar SK, Gandhi D. Congenital Malformations of the Orbit. Neuroimaging Clin North Am 2011; 21: 585-602 DOI: 10.1016/j.nic.2011.05.004.
- 21 Syngelaki A, Hammami A, Bower S. et al. Diagnosis of fetal non‐chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 2019; 54: 468-476 DOI: 10.1002/uog.20844.
- 22 Gerrie SK, Rajani H, Branson HM. et al. Pediatric orbital lesions: ocular pathologies. Pediatr Radiol 2024; 1-21 DOI: 10.1007/s00247-024-05869-w.
- 23 Warburg M. Classification of microphthalmos and coloboma. J Méd Genet 1993; 30: 664 DOI: 10.1136/jmg.30.8.664.
- 24 Bault JP, Quarello E. Retinal coloboma: prenatal diagnosis using a new technique, the “virtual fetal eyeground”. Ultrasound Obstet Gynecol 2009; 33: 495-496 DOI: 10.1002/uog.6360.
- 25 Silbert M, Gurwood AS. Persistent hyperplastic primary vitreous. Clin Eye Vis Care 2000; 12: 131-137 DOI: 10.1016/s0953-4431(00)00054-0.
- 26 Chen C, Xiao H, Ding X. Persistent Fetal Vasculature. Asia-Pac J Ophthalmol 2019; 8: 86-95 DOI: 10.22608/apo.201854.
- 27 Zahavi A, Weinberger D, Snir M. et al. Management of severe persistent fetal vasculature: case series and review of the literature. Int Ophthalmol 2019; 39: 579-587 DOI: 10.1007/s10792-018-0855-9.
- 28 Prakhunhungsit S, Berrocal AM. Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights. Clin Ophthalmol (Auckl, NZ) 2020; 14: 4325-4335 DOI: 10.2147/opth.s236117.
- 29 Fukushima Y, Tomimatsu T, Nishida K. Fetal Ultrasound Image in Persistent Fetal Vasculature. Ophthalmology 2019; 126: 988 DOI: 10.1016/j.ophtha.2019.04.004.
- 30 Ashwal E, Achiron A, Gilboa Y. et al. Prenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease. Ultraschall Med – Eur J Ultrasound 2016; 39: 213-218 DOI: 10.1055/s-0042-120841.
- 31 Qin Y, Zhong X, Wen H. et al. Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases. Ultraschall Med – Eur J Ultrasound 2020; 43: e125-e134 DOI: 10.1055/a-1320-0799.
- 32 Gupta MP, Herzlich AA, Sauer T. et al. Retinal Anatomy and Pathology. Dev Ophthalmol 2015; 55: 7-17 DOI: 10.1159/000431128.
- 33 Li S, Luo G, Tian X. et al. Prenatal diagnosis and perinatal outcome of congenital dacryocystocele: a large case series. Prenat Diagn 2015; 35: 103-107 DOI: 10.1002/pd.4494.
- 34 Goncalves LF, Ramasubramanian A, Grebe T. et al. Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature. Clin Imaging 2021; 78: 121-126 DOI: 10.1016/j.clinimag.2021.03.023.
- 35 Suri M. Craniofacial syndromes. Seminars in Fetal and Neonatal Medicine 2005; 10: 243-257 DOI: 10.1016/j.siny.2004.12.002.
- 36 Clark DM, Sherer I, Deardorff MA. et al. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies. American Journal of Medical Genetics Part A 2012; 158A: 1848-1856 DOI: 10.1002/ajmg.a.35410.
- 37 Shi A, Levin AV. Ophthalmologic findings in the Cornelia de Lange syndrome. Ophthalmic Genet 2019; 40: 1-6 DOI: 10.1080/13816810.2019.1571617.
- 38 Pickup EES, Schlatterer SD, Plessis du AJ. et al. Isolated Absent Septum Pellucidum: A Retrospective Study of Fetal Diagnosis and Postnatal Outcomes. Pediatr Neurol 2022; 136: 8-14 DOI: 10.1016/j.pediatrneurol.2022.07.011.
- 39 Shinar S, Blaser S, Chitayat D. et al. Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia. Ultrasound Obstet Gynecol 2020; 56: 371-377 DOI: 10.1002/uog.22018.
- 40 Haratz K, Viñals F, Lev D. et al. Fetal optic nerve sheath measurement as a non‐invasive tool for assessment of increased intracranial pressure. Ultrasound Obstet Gynecol 2011; 38: 646-651 DOI: 10.1002/uog.9050.
- 41 Haratz KK, Melcer Y, Leibovitz Z. et al. Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter. Ultraschall Med – Eur J Ultrasound 2018; 40: 476-480 DOI: 10.1055/a-0594-2053.
- 42 Spingler T, Wiechers C, Hoopmann M. et al. Prenatal diagnosis of a fetal harlequin ichthyosis. Arch Gynecol Obstet 2023; 309: 1651-1653 DOI: 10.1007/s00404-023-07164-9.