Staffieri Sandra E, McGillivray George, Elder James E, Bristowe Amber, Cole Stephen, McKenzie John D, Fink A Michelle
The Royal Children's Hospital, Melbourne, Victoria, Australia; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Prenat Diagn. 2015 Feb;35(2):174-8. doi: 10.1002/pd.4514. Epub 2014 Nov 27.
This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB.
This is a retrospective review of the prenatal course and immediate postnatal findings in all children considered at high risk of RB who had prenatal imaging with both US and MRI at our institution over a 5-year period.
Five patients met the inclusion criteria. No lesions were identified on US in any patients. Fetal MRI identified bilateral posterior pole lesions in one patient at 35 weeks' gestation. Of the four remaining patients, three developed lesions by 5 weeks of age. Only one fetus was delivered early following detection of RB.
We present the first reported case of RB detected in a high-risk fetus on screening MRI at 35 weeks' gestation. A protocol for screening this population using both imaging modalities is presented.
本研究旨在描述一名患有家族性视网膜母细胞瘤（RB）的35周胎儿的磁共振成像（MRI）肿瘤识别情况，并报告产前超声（US）和MRI筛查在RB高危胎儿管理中的应用。
这是一项对5年间在我们机构接受产前US和MRI成像的所有RB高危儿童的产前过程和出生后即刻检查结果的回顾性研究。
5例患者符合纳入标准。所有患者的US检查均未发现病变。胎儿MRI在一名孕35周的患者中发现双侧后极病变。其余4例患者中，3例在5周龄时出现病变。仅1例胎儿在检测到RB后提前分娩。
我们报告了首例在孕35周时通过筛查MRI在高危胎儿中检测到RB的病例。本文介绍了使用这两种成像方式对该人群进行筛查的方案。
