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

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