Prenatal Ultrasound Diagnosis and Prognosis Analysis of Fetal Congenital Cataract.

Abstract

Purpose: To explore the prenatal ultrasound signs of fetal congenital cataract, study the potential etiologies, and evaluate the perinatal outcomes and the prognosis.

Patients and methods: The study included 29 cases of fetal congenital cataract identified using prenatal ultrasound screening from January 2018 to September 2023 in our hospital. Ultrasound signs, the potential etiologies, the perinatal outcomes, and prognosis were analyzed.

Results: Among the 29 cases, 18 (62.1%) showed complete hyperechogenicity of the lens (type I), 6 (20.7%) showed dot or cluster hyperechogenicity within the lens (type II), and 5 (17.2%) showed the "double-ring" sign (type III). Moreover 18 (62.1%) involved isolated cataract and 11 (37.9%) involved cataract associated with extraocular abnormalities, with central nervous system and cardiac abnormalities being the most common. In terms of potential etiology, five cases (17.2%) had a family history, and genetic testing was performed in eight cases, with five of them showing abnormalities. Cases 2 and 16 involved two fetuses of the same pregnant woman, both of which had a hemizygous mutation of the OCRL gene (c.1514G > A). Moreover Case 3 involved Trisomy 13, and Case 17 had heterozygous mutations of the RAB3GAP1 gene (c.718C > T and c.1879dupA). Furthermore, Case 21 had a heterozygous mutation of the NHS gene (c.375C > A). Among the 29 cases, pregnancy was terminated in 21 (72.4%) and was continued in 4 (13.8%).

Conclusion: Congenital cataract, defined as lens opacity, presents as complete hyperechogenicity of the lens, a double-ring sign, or dot and cluster hyperechogenicity within the lens on prenatal ultrasound. Prenatal ultrasound can help assess the eyes and other systems during prenatal or postnatal examinations and can provide additional information for prenatal counseling and early postnatal treatment of congenital cataract.