摘要
目的评估低深度全基因组测序技术(copy number variations sequencing,CNV-seq)在鼻骨发育不良胎儿遗传学病因中的诊断价值。方法选择2017年12月至2020年12月本院发现的217例鼻骨发育不良胎儿为研究对象,分为孤立型鼻骨发育不良组及合并其他异常组,进行CNV-Seq检测,并分析拷贝数变异(copy number variations,CNVs)的情况。结果在217例胎儿中共检出40例异常,异常率为18.4%,其中包括31例非整倍体(14.3%,31/217)和9例CNVs(4.1%,9/217)。孤立组共检出5例21三体(3.5%,5/144)和2例临床意义未明CNVs(1.4%,2/144)。合并组检出26例非整倍体(35.6%,26/73),包括19例21三体、6例18三体及1例13三体,另发现5例致病性CNVs(6.8%,5/73)以及2例临床意义未明CNVs(2.7%,2/73)。经卡方检验,两组差异具有统计学意义(P<0.01)。结论CNV-Seq技术对于鼻骨发育不良的胎儿的染色体异常具有较高的检出率,尤其在合并其他超声异常的病例中检出非整倍体及致病性CNVs的概率更高。
Objective To assess the diagnostic value of copy number variation sequencing(CNV-seq)in the genetic etiology of fetuses with nasal bone dysplasia(NBD).Methods A total of 217 fetuses discovered with NBD from December 2017 to December 2020 were divided into the isolated NBD group and NBD combined with other anomalies group,for which copy number variations(CNVs)were analyzed.Results A total of 40 fetal abnormalities were detected in 217 cases,with an overall abnormal rate of 18.4%.These included 31 cases with aneuploidies(14.3%,31/217)and 9 cases with genomic CNVs(4.1%,9/217).Five cases of trisomy 21(3.5%,5/144)and two CNVs cases with unknown clinical significance(1.4%,2/144)were detected in the isolated group.As for the combined NBD group,26 aneuploidies(35.6%,26/73),including 19 cases with trisomy 21,6 cases with trisomy 18,1 case with trisomy 13,5 cases with pathogenic CNVs(6.8%,5/73),and 2 cases with CNVs of unknown clinical significance(2.7%,2/73)were detected.A significant difference was detected between the two groups(P<0.01).Conclusion The detection rate of CNV-seq is high for chromosomal aneuploidies and pathogenic CNVs in fetuses with NBD,particularly in those combined with other ultrasonic abnormalities.
作者
时盼来
侯雅勤
陈铎
刘宁
焦智慧
冯银
孙阁阁
朱若男
孔祥东
Shi Panlai;Hou Yaqin;Chen Duo;Liu Ning;Jiao Zhihui;Feng Yin;Sun Gege;Zhu Ruonan;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第10期1076-1079,共4页
Chinese Journal of Medical Genetics
基金
河南省医学科技攻关计划(联合共建)项目(LHGJ20190130)
国家重点研发计划(2018YFC1002203)。
关键词
鼻骨发育不良
低深度全基因组测序
拷贝数变异
Nasal bone dysplasia
Copy number variation sequencing
Copy number variation
