产前诊断Joubert综合征一例并文献复习

一例25岁孕妇，产前超声检查发现胎儿小脑蚓部异常，胎儿MRI检查发现脑干"磨牙征"，小脑上蚓部仅见少量组织。引产后胎儿MRI检查和尸体解剖发现小脑蚓部发育不良，第二代基因测序技术发现胎儿染色体CC2D2A基因存在c.2728C > T和c.4598T > C的复合杂合突变基因。
Abstract: A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed ‘molar tooth sign’ in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease. Key words: Prenatal diagnosis Congenital abnormalities Cerebellum Magnetic resonance imaging Chromosome aberrations Case reports