Prader-Willi syndrome: is there a recognizable fetal phenotype?
Prader-Willi syndrome: is there a recognizable fetal phenotype?
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DOI：
10.1002/pd.1973
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发表时间：
2008-09-01
影响因子：
3
通讯作者：
Blanchet, Patricia
中科院分区：
文献类型：
--
作者：
Bigi, Nicole;Faure, Jean-Michel;Blanchet, Patricia
目的探讨胎儿特征。方法对2例妊娠期Prader-Willi综合征（PWS）的超声表现、遗传学检查及病理结果进行分析。羊水过多和手脚位置异常提示PWS甲基化研究证实了诊断，在15 q11-q13区域检测到I缺失。在第二种情况下。类似的超声发现导致PWS的产前诊断，其异常甲基化模式与单亲二体性一致。两个胎儿在妊娠28周和30周时都有特征性的外观，包括手腕弯曲的手的特殊位置和脚趾弯曲的背伸脚。结论四肢的特殊位置结合胎动减少和羊水过多似乎是特征性的，应该建议PWS。版权所有（c）2008年约翰威利父子。公司
Objectives To determine fetal features. Which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy.Methods We analyze the ultrasound features, genetic Studies and pathologic findings in two cases of PWS diagnosed during, pregnancy.Results In the first case, diminished fetal movement. polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and I deletion was detected in the 15q11-q13 region. In the second case. similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes.Conclusions The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright (c) 2008 John Wiley & Sons. Ltd.