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

Journal of Medical Case Reports
A SearleT I Alahakoon

Abstract

Microphthalmia 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. We present two antenatal cases, one each of microphthalmia and anophthalmia, both diagnosed at the morphology scan at our tertiary fetal medicine unit. In both cases, the parents (a 36-year-old woman of Mauritanian ethnicity and a non-consanguineous partner of Nepalese descent, and a 31-year-old Caucasian woman and non-consanguineous Caucasian partner) elected to terminate their pregnancies and made unremarkable recoveries. Subsequent fetal autopsy confirmed the ultrasound scan findings. We recommend that antenatal ultrasound ...Continue Reading

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Citations

Dec 21, 2019·Indian Journal of Ophthalmology·Dongyu SongDongmei Li
Dec 21, 2020·Journal français d'ophtalmologie·A R Kougou NtoutoumeO Cherkaoui
Aug 19, 2021·BMJ Case Reports·Ana Mesquita Varejão, Inês Pestana

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Methods Mentioned

BETA
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