Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

摘要

BackgroundMicrophthalmia and anophthalmia are rare congenital fetal abnormalities. The combined incidence is estimated at 1 in 10,000 births. These two conditions arise from complex and incompletely understood genetic and/or environmental causes. Prenatal diagnosis is neither frequent nor easy and relies on precise, high-quality ultrasonography. Current antenatal ultrasound protocols for imaging of the fetal eye are inconsistent and inadequate to screen for the spectrum of ocular malformations, and there are no clear guidelines on detection of these rare abnormalities. Our study of two cases highlights the importance of early detection, and we review current practice and suggest a definitive fetal imaging protocol.