通过超声和磁共振成像对存在乔伯特综合征风险的妊娠进行产前诊断。
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
作者信息
Doherty Dan, Glass Ian A, Siebert Joseph R, Strouse Peter J, Parisi Melissa A, Shaw Dennis W W, Chance Phillip F, Barr Mason, Nyberg David
机构信息
University of Washington/Children's Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA.
出版信息
Prenat Diagn. 2005 Jun;25(6):442-7. doi: 10.1002/pd.1145.
OBJECTIVES
To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI.
METHODS
We reviewed prenatal ultrasound and fetal MRI studies in two pregnancies at 25% recurrence risk for JS and correlated these findings with gross neuropathology in one affected fetus.
RESULTS
While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation.
CONCLUSIONS
With longitudinal monitoring, it is possible to diagnose JS in at-risk pregnancies before 24 weeks' gestation. On the basis of our data and review of the literature, we propose a protocol for monitoring pregnancies at risk for JS, utilizing serial ultrasounds combined with fetal MRI at 20-22 weeks' gestation to maximize the accuracy of prenatal diagnosis.
目的
描述患有Joubert综合征（JS）风险胎儿的产前影像学表现，回顾相关文献并提出使用超声和磁共振成像（MRI）对JS进行产前诊断的方案。
方法
我们回顾了两个有25% JS复发风险的妊娠中的产前超声和胎儿MRI研究，并将这些发现与一名受影响胎儿的大体神经病理学结果进行了关联。
结果
虽然在孕中期之前已发现枕部脑膨出或大池扩大等异常，但基于核心小脑表现的JS明确诊断仅在妊娠17周后才有可能。
结论
通过纵向监测，有可能在妊娠24周前对有风险的妊娠进行JS诊断。根据我们的数据和文献回顾，我们提出了一个对有JS风险的妊娠进行监测的方案，在妊娠20 - 22周时利用系列超声联合胎儿MRI，以最大限度提高产前诊断的准确性。
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