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, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):634-637. doi: 10.3760/cma.j.issn.1003-9406.2018.05.003.
To explore the genetic basis for fetuses with cleft lip and palate.
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 chorionic villi, amniotic fluid or cordocentesis samples.
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.
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.
探讨唇腭裂胎儿的遗传基础。
对100例诊断为唇裂伴或不伴腭裂的胎儿，采集绒毛、羊水或脐血样本进行G显带染色体核型分析和拷贝数变异测序（CNV-seq）。
49例单纯性唇腭裂胎儿未发现基因组异常，51例综合征性唇腭裂胎儿发现12例基因组畸变，其中4例13三体、2例18三体、1例X染色体非整倍体、2例其他染色体非整倍体及3例致病性拷贝数变异。
唇腭裂胎儿基因组异常发生率较高。除染色体异常外，还应关注致病性拷贝数变异。
