PDF(Pubmed)
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.
摘要：
目的：描述一例诺里病胎儿早期计划分娩的病例。方法：进行回顾性图表回顾。结果：患有Norrie病的年龄较大的同胞患有双侧失明的胎儿在绒毛膜绒毛取样中的NPD基因检测呈阳性。经腹胎儿眼科超声检查发现胎龄32周时双侧视网膜完全脱离（RDs）。胎儿在37周时分娩，并在麻醉下进行了检查，显示双侧无法手术的RD。结论：经腹胎儿眼科超声能够识别子宫内的双侧总RD。如果胎儿在子宫内有RD的证据，则需要对早产或早期分娩进行进一步研究。
