产前超声结合NGS在一例MCPH5型胎儿产前诊断中的应用

Application of prenatal ultrasound combined with NGS in the prenatal diagnosis of a MCPH5 fetus

目的针对有不良孕产史且妊娠超声再次发现胎儿头围偏小家系,探寻致病基因及变异位点,为临床后续进行遗传咨询及产前诊断提供科学依据。方法查询并收集胎儿超声检查结果,采集脐血及夫妻双方外周血样本提取DNA,使用高通量测序的方法结合生物信息学分析筛选可能致病的基因及变异位点,并针对相应变异位点进行家系Sanger测序验证。结果胎儿超声结果提示双顶径及头围明显小于孕周,高通量检测结果提示疾病相关基因ASPM存在c.6970dupA杂合复合c.7541delA杂合疑似致病变异。结论通过影像学检测提示信息,结合NGS方法快速诊断MCPH5型胎儿一例。

Objective To search for pathogenic genes and loci for fetuses with“microcephaly”detected by ultrasound.Methods By Query and collect fetal ultrasound results,collect cord blood samples to extract DNA,use high⁃throughput sequencing methods combined with database analysis to screen possible disease⁃causing genes and mutation sites,and follow⁃up Sanger sequencing family verification for the corresponding sites.Results The results indicate that the double parietal diameter and head circumference are significantly less than gestation.The high⁃throughput test results indicate the existence of c.6970dupA compound c.7541delA heterozygous suspected pathogenic variants in the disease⁃related gene ASPM.Conclusion A case of MCPH5 type fetus was rapidly diagnosed by imaging detection prompt information combined with NGS method.