多学科评估诊断胎儿成骨不全症：10例回顾性研究
Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.
作者信息
Wu Qichang, Wang Wenbo, Cao Lin, Sun Li, Xu Yasong, Zhong Xiaohong
机构信息
Prenatal Diagnosis Center of Xiamen's Maternal & Child Health Care Hospital , Xiamen, Fujian , China.
出版信息
Fetal Pediatr Pathol. 2015 Feb;34(1):57-64. doi: 10.3109/15513815.2014.962198. Epub 2014 Oct 7.
OBJECTIVE
To describe our 2 year experience in diagnosing prenatal-onset osteogenesis imperfecta (OI) by multidisciplinary assessment.
METHODS
We retrospectively analyzed 10 cases of fetal OI by using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL1A1/2.
RESULTS
By postnatal radiographic examination, five patients were diagnosed with type II OI and five were diagnosed with type III OI. A causative variant in the COL1A1 gene was found in four cases of type II and one case of type III OI; a causative variant in the COL1A2 gene was found in two cases of type III OI.
CONCLUSION
The definitive diagnosis of fetal OI should be accomplished using a multidisciplinary assessment, which is paramount for proper genetic counseling. With the discovery of COL1A1/2 gene variants as a cause of OI, sequence analysis of these genes will add to the diagnostic process.
目的
描述我们通过多学科评估诊断产前起病型成骨不全（OI）的2年经验。
方法
我们通过产前超声评估、产后X线诊断以及COL1A1/2的分子基因检测，回顾性分析了10例胎儿OI病例。
结果
通过产后X线检查，5例患者被诊断为II型OI，5例被诊断为III型OI。在4例II型和1例III型OI中发现了COL1A1基因的致病变异；在2例III型OI中发现了COL1A2基因的致病变异。
结论
胎儿OI的明确诊断应通过多学科评估来完成，这对于进行适当的遗传咨询至关重要。随着发现COL1A1/2基因变异是OI的病因，对这些基因进行序列分析将有助于诊断过程。
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