Objectives: To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS).
Methods: The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced.
Results: Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene.
Conclusion: Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.
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