100例唇腭裂胎儿的产前诊断结果分析  

Genetic analysis of 100 fetuses with cleft lip with or without palate

作　　者：侯磊[1] 李介岩[1] 王小新[1] 张涛[1] 李莉[1] 张为远[1] 王欣[1] Hou Lei, Li Jieyan, Wang Xiaoxin, Zhang Tao, Li Li, Zhang Weiyuan, Wang Xin(Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, Chin)

机构地区：[1]首都医科大学附属北京妇产医院产科,北京100026

出　　处：《中华医学遗传学杂志》2018年第5期634-637,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析唇腭裂胎儿的产前诊断结果，明确其遗传学异常的类型及分布。方法对100例超声提示胎儿唇腭裂的孕妇进行经腹绒毛取样、羊膜腔穿刺或脐静脉穿刺，对其胎儿进行染色体核型及低覆盖度大规模平行测序分析。结果在49例孤立型唇腭裂胎儿中未检出染色体异常，在51例综合征型唇腭裂胎儿中检出12例遗传学异常，具体包括2例18-三体、4例13-三体，1例性染色体异常，2例其他染色体异常，以及3例致病性基因拷贝数变异。结论唇腭裂是基因组异常的重要指标，须进行产前诊断。对于唇腭裂胎儿，除常规的染色体核型分析外，还需要重视基因组拷贝数变异的检测。Objective To explore the genetic basis for fetuses with cleft lip and palate. Methods For 100 fetuses diagnosed with cleft lip with or without palate, G-banding chromosomal karyotyping and copy number variation sequencing （CNV-seq） were carried out on ehorionic villi, amniotie fluid or cordocentesis samples. Results No genomic abnormality was found among 49 fetuses with isolated cleft lip and palate, while 12 genomic aberrations were found among 51 fetuses with syndromic cleft lip and palate, which included 4 cases with trisomy 13, 2 cases with trisomy 18, 1 with X chromosome aneuploidy, 2 with other chromosomal aneuploidies and 3 with pathogenic CNVs. Conclusion The incidence of genomic abnormalities in fetuses with cleft lip and palate was high. In addition to chromosomal abnormalities, attention should also be paid to pathogenic CNVs.

关 键 词：唇腭裂 产前诊断 基因组拷贝数变异 胎儿超声软指标 染色体异常 

分 类 号：R714.51[医药卫生—妇产科学]