产前诊断胎儿先天性原发性特雷彻·柯林斯综合征中 TCOF1 基因的微缺失。
Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.
机构信息
Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taiwan.
School of Medicine for International Students, I-Shou University, Kaohsiung 84001, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2022 May;61(3):514-516. doi: 10.1016/j.tjog.2022.03.020.
OBJECTIVE
To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.
CASE REPORT
We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5.
CONCLUSION
Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome.
目的
研究颅面畸形病因先天性特雷彻·柯林斯综合征的产前诊断。
病例报告
我们报告了一例通过孕晚期（28 周）产前超声筛查发现的胎儿颅面畸形病例；检测到小颌畸形、颧骨发育不良和双侧低位小耳等特征。由于颅面畸形的严重程度未知且预后不良，经咨询后父母决定终止胎儿妊娠。检测到正常女性核型。父母同意进行染色体微阵列分析（CMA），发现 5 号染色体 TCS1 基因座的新生突变。
结论
分子 CMA 是产前诊断与特雷彻·柯林斯综合征相关的先天性颅面畸形的有效工具。
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