Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease

Abstract

Purpose: To describe a case of early-term planned delivery of a fetus with Norrie disease. Methods: A retrospective chart review was performed. Results: A fetus with an older sibling with bilateral blindness from Norrie disease had positive NPD genetic testing on chorionic villus sampling. Transabdominal fetal ophthalmic ultrasound found bilateral total retinal detachments (RDs) at 32 weeks gestational age. The fetus was delivered at 37 weeks and had an examination under anesthesia, which showed bilateral inoperable RDs. Conclusions: Transabdominal fetal ophthalmic ultrasound was able to identity bilateral total RDs in utero. Further study is warranted on preterm or early-term delivery if a fetus has evidence of RD in utero.

From the Editor-in-Chief

“…Justin et al 12 report the use of transabdominal ultrasound at 32 weeks of age to document total retinal detachments in an infant with Norrie disease. The infant was delivered early at 37 weeks but was deemed inoperable at that time.…”