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目的:对1例无脑回畸形胎儿进行遗传学诊断，分析其可能的发生机制，为临床诊断和遗传咨询提供依据。方法:应用拷贝数变异分析(copy number variation，CNV)技术检测分析胎儿羊水细胞DNA。结果:CNV检测结果显示胎儿染色体17p13.3p13.2区存在5.02 Mb杂合缺失，该缺失片段完全覆盖Miller-Dieker综合征所在区域(chr17：1～2 588 909)。结论:胎儿诊断为Miller-Dieker综合征，17号染色体短臂末端n PAFAH1B1基因缺失可能是造成胎儿无脑回畸形的关键基因。n “,”Objective:To explore the genetic basis for a fetus with lissencephaly.Methods:Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.Results:The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909).Conclusion:The fetus was diagnosed with MDS. Deletion of the n PAFAH1B1 gene may account for the lissencephaly found in the fetus.n