BACKGROUND Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. OBJECTIVE The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses. MATERIALS AND METHODS This retrospective study was approved by the institutional review board; informed consent was waived. Women referred for suspected fetal skeletal dysplasia who underwent MRI between January 2003 and December 2018 were included. Definitive diagnoses were determined by genetic testing, autopsy, physical examination and/or postnatal/postmortem imaging. Fetal MRI examinations and reports were reviewed. Descriptive statistics were used to summarize imaging findings. RESULTS Eighty-nine women were referred for fetal MRI for possible skeletal dysplasia. Forty-three (48%) were determined to have a diagnosis other than skeletal dysplasia and nine were excluded for lack of specific skeletal dysplasia diagnosis. Thirty-seven cases of skeletal dysplasia with available fetal MRI and specific diagnosis were included for analysis. Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomelic dysplasia (n=2), Jeune syndrome (n=1), Kniest dysplasia (n=1), osteogenesis imperfecta (n=15) and thanatophoric dysplasia (n=10). A specific skeletal dysplasia diagnosis was mentioned in 17/37 (46%) of MRI imaging reports and correct for 14/17 (82%). MRI findings were reported for each specific skeletal dysplasia diagnosis. CONCLUSION Fetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.

中文翻译：

---

胎儿磁共振成像的骨骼发育不良。

背景技术胎儿磁共振成像（MRI）用于骨骼发育异常的产前诊断和预后。但是，相关文献有限。目的本研究的目的是确定胎儿MRI在骨骼发育异常中的作用，并报告与特定诊断相关的MRI发现。材料与方法这项回顾性研究获得了机构审查委员会的批准。知情同意书被放弃。包括因怀疑胎儿骨骼发育不良而转诊的妇女，她们在2003年1月至2018年12月之间接受了MRI检查。明确的诊断通过基因检测，尸检，体格检查和/或产后/验尸成像确定。胎儿MRI检查和报告进行了审查。描述性统计用于总结影像学发现。结果八十九名妇女因可能的骨骼发育不良而接受了胎儿MRI检查。已确定有四十三名（48％）患有除骨骼发育不良以外的诊断，而由于缺乏特定的骨骼发育不良诊断而被排除了九名。分析了37例具有胎儿MRI和特异性诊断的骨骼发育不良的病例。诊断包括软骨发育不全（n = 2），软骨发育不全（n = 5），回旋镖发育不良（n = 1），坎波莫氏发育不良（n = 2），Jeune综合征（n = 1），最尖锐的发育不良（n = 1），成骨不全（n = 15）和眼前发育不全（n = 10）。MRI成像报告的17/37（46％）中提到了一种特定的骨骼发育异常诊断，并纠正了14/17（82％）。每次特定的骨骼发育不良诊断都报告了MRI发现。结论胎儿MRI是诊断骨骼发育不良的有用工具，在将近一半的妊娠中排除了诊断。胎儿MRI除了提供胎儿肺活量外，还可以显示大脑中的软骨发育不全和软骨发育不全，棘突发育不全和软骨发育不全的脊柱，骨生成不全和软骨发育异常的颅骨以及最下端发育不良的软骨。