Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases

Abstract

Purpose To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract.

Materials and Methods We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted.

Results Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the “double ring” sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery.

Conclusion Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.

Zusammenfassung

Ziel Beschreibung der Merkmale im pränatalen Ultraschall und des perinatalen Outcomes bei angeborenem Katarakt.

Material und Methoden Wir analysierten Fälle mit angeborenem Katarakt, die zwischen August 2004 und Februar 2019 an 4 Zentren überwiesen und pränatal diagnostiziert wurden. Die Diagnose wurde postnatal durch eine augenärztliche Untersuchung des Lebendgeborenen oder im Falle einer Interruptio durch Autopsie bestätigt. Die demografischen Daten der Mutter, genetische Untersuchungsergebnisse, pränatale Ultraschallbilder und das perinatale Outcome wurden analysiert.

Ergebnisse Insgesamt 41 Fälle von angeborenem Katarakt, die bei 788 751 Frauen im Rahmen einer anatomischen Untersuchung des Fötus diagnostiziert wurden. Basierend auf den sonografischen Merkmalen zeigten 16/41 (39,0 %) eine dichte echogene Struktur, 15/41 (36,6 %) einen hyperechogenen Fleck und 10/41 (24,4 %) das „Doppelring“ -Zeichen. Isolierte Merkmale fanden sich bei 17/41 (41,5 %) und assoziierte intraokulare und extraokulare Befunde bei 24/41 (58,5 %). Mikrophthalmie, Anomalien des Herzens und des Zentralnervensystems waren die häufigsten assoziierten Befunde. In Bezug auf eine mögliche Ätiologie lag in 6 Fällen bereits ein familiärer angeborener Katarakt vor, in 4 Fällen wurde eine kongenitale Rötelninfektion bestätigt und 2 Fälle hatten Aneuploidie. Für einen Schwangerschaftsabbruch entschieden sich 31/41 (75,6 %) und für eine Fortsetzung der Schwangerschaft 10/41 (24,4 %). Von diesen 10 Fällen verstarb ein Kind, ein Fall ging für die Nachsorge verloren und bei den übrigen 8 Kindern wurde die augenärztliche Nachsorge und eine postnatale Operation eingeleitet.

Schlussfolgerung Bei Feststellung eines fetalen Katarakts wird empfohlen, die fetale Anatomie detailliert zu untersuchen, um assoziierte Anomalien auszuschließen, sowie die mögliche Ätiologie abzuklären. Die pränatale Diagnose des angeborenen Katarakts liefert wichtige Informationen für die Beratung und das weitere Management.

Key words

congenital cataract - prenatal ultrasound diagnosis - sonographic features - etiology - perinatal outcome

^# Yue Qin and Xiaohong Zhong contributed equally as first authors. Yue Qin and Xiaohong Zhong wrote the first draft of the manuscript and prepared the ultrasound image and corresponding schematic drawing.

^* Shengli Li and Shuihua Yang contributed equally as corresponding authors. Shengli Li and Shuihua Yang designed the study and performed the data interpretation and edited the manuscript.

Publication History

Received: 28 May 2020

Accepted: 11 November 2020

Article published online:
16 March 2021

• References

• 1 Peng L, Xie Q. Advancement of congenital cataract in the responsible gene. Int J Ophthalmol 2010; 3: 277-280
• 2 Santana A, Waiswol M, Arcieri ES. et al. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 2009; 15: 793-800
• 3 Pichi F, Lembo A, Serafino M. et al. Genetics of Congenital Cataract. Dev Ophthalmol 2016; 57: 1-14
• 4 Léonard A, Bernard P, Hiel AL. et al. Prenatal diagnosis of fetal cataract: case report and review of the literature. Fetal Diagn Ther 2009; 26: 61-67
• 5 Bronshtein M, Zimmer E, Gershoni-Baruch R. et al. First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: Report of eight cases. Obstet Gynecol 1991; 77: 443-449
• 6 Chen PF, Tsai PY, Cheng YC. et al. Congenital cataracts diagnosed by prenatal ultrasound. Taiwan J Obstet Gynecol 2015; 54: 461-462
• 7 Reddy MA, Francis PJ, Berry V. et al. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49: 300-315
• 8 Ashwal E, Achiron A, Gilboa Y. et al. Prenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease. Ultraschall in Med 2018; 39: 213-218
• 9 Mashiach R, Vardimon D, Kaplan B. et al. Early sonographic detection of recurrent fetal eye anomalies. Ultrasound Obstet Gynecol 2004; 24: 640-643
• 10 Derbent M, Agras PI, Gedik S. et al. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Am J Med Genet A 2004; 128A: 232-234
• 11 Beinder EJ, Pfeiffer RA, Bornemann A. et al. Second-Trimester Diagnosis of Fetal Cataract in a Fetus with Walker-Warburg Syndrome. Fetal Diagn Ther 1997; 12: 197-199
• 12 Wu X, Long E, Lin H. et al. Global prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis. Lancet 2016; 388: S55
• 13 Zimmer EZ, Bronshtein M, Ophir E. et al. Sonographic diagnosis of fetal congenital cataracts. Prenat Diagn 1993; 13: 503-511
• 14 Rahi JS, Dezateux C. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci 2000; 41: 2108-2114
• 15 Wirth MG, Russell-Eggitt IM, Craig JE. et al. Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol 2002; 86: 782-786
• 16 Lu B, Yang Y. Detection of TORCH pathogens in children with congenital cataracts. Exp Ther Med 2016; 12: 1159-1164
• 17 Solebo AL, Russell-Eggitt I, Cumberland P. et al. Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2. Eye (Lond) 2016; 30: 1204-1209
• 18 Gouws P, Hussin HM, Markham RH. Long term results of primary posterior chamber intraocular lens implantation for congenital cataract in the first year of life. Br J Ophthalmol 2006; 90: 975-978
• 19 Watts P, Abdolell M, Levin AV. Complications in infants undergoing surgery for congenital cataract in the first 12 weeks of life: is early surgery better?. J AAPOS 2003; 7: 81-85
• 20 Labelle AR. Treatment of congenital cataract. J Int Coll Surg 1961; 35: 620-623
• 21 Magli A, Forte R, Rombetto L. Long-term outcome of primary versus secondary intraocular lens implantation after simultaneous removal of bilateral congenital cataract. Graefes Arch Clin Exp Ophthalmol 2013; 251: 309-314
• 22 Keech RV, Tongue AC, Scott WE. Complications after surgery for congenital and infantile cataracts. Am J Ophthalmol 1989; 108: 136-141
• 23 Gaary EA, Rawnsley E, Marin-Padilla JM. et al. In utero detection of fetal cataracts. J Ultrasound Med 1993; 12: 234-236
• 24 Monteagudo A, Timor-Tritsch IE, Friedman AH. et al. Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound. Ultrasound Obstet Gynecol 1996; 8: 104-108
• 25 Drysdale K, Kyle PM, Sepulveda W. Prenatal detection of congenital inherited cataracts. Ultrasound Obstet Gynecol 1997; 9: 62-63
• 26 Burgess IA, Martin SL, Hines BA. et al. Prenatal detection of congenital idiopathic cataracts. Med J Aust 1998; 169: 385-386
• 27 Cengiz B, Baxi L. Congenital Cataract in Triplet Pregnancy after IVF with Frozen Embryos: Prenatal Diagnosis and Management. Fetal Diagn Ther 2001; 16: 234-236
• 28 Lehman SS. Antenatal ophthalmology. J AAPOS 2003; 7: 428-429
• 29 Lee KA, Park MH, Kim YJ. et al. Isolated congenital hereditary cataract in a dizygotic twin: prenatal ultrasonographic diagnosis. Twin Res Hum Genet 2013; 16: 994-997
• 30 Trkova M, Hynek M, Dudakova L. et al. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. Am J Med Genet A 2016; 170: 1843-1848