超声结合WES对Treacher Collins综合征胎儿的产前诊断

Prenatal diagnosis of a fetal with Treacher Collins syndrome by ultrasound and WES

目的通过基因检测及遗传学分析对1例超声提示小下颌合并外耳异常胎儿进行产前诊断。方法采集孕妇临床病例资料及羊水标本,应用多重定量荧光PCR(quantitative fluorescence PCR,QFPCR)、染色体核型分析、染色体微阵列(chromosome microarray analysis,CMA)及全外显子测序(whole exon sequencing,WES)技术对羊水标本进行检测。结果QF-PCR、染色体核型分析、CMA结果均正常,WES结果提示胎儿TCOF1基因存在一新发杂合缺失突变(c.928-c.931del:p:T310fs)。结论本例胎儿TCOF1基因缺失突变为致病性变异,可导致Treacher Collins综合征,超声异常结合WES可以指导产前诊断。

Objective To make prenatal diagnosis of a fetus with abnormal micromandible and external ear revealed by ultrasound through gene detection and genetic analysis.Methods The clinical data of pregnant woman and amniotic fluid sample was collected and detected by quantitative fluorescence PCR(QF-PCR),chromosome karyotype analysis,chromosome microarray analysis(CMA)and whole exon sequencing(WES).Results The results of QF-PCR,chromosome karyotype analysis and CMA was normal.WES results suggested that there was a new heterozygous deletion mutation(c.928-c.931del:P:T310fs)in fetal TCOF1gene.Conclusion The deletion mutation of TCOF1gene in this case is a pathogenic mutation,which can lead to Treacher Collins syndrome.Abnormal ultrasound combined with WES can guide prenatal diagnosis.