孕11-27周胎儿鼻骨发育不良的CNV-seq联合染色体核型诊断结果分析

Analysis of CNV-seq combined with chromosome karyotype diagnosis of fetal nasal bone dysplasia at 11 to 27 weeks of pregnancy

目的分析孕11~27周胎儿鼻骨发育不良的染色体拷贝数变异测序(CNV-seq)联合染色体核型诊断结果。方法回顾性纳入2021年1月至2022年12月于广州市妇女儿童医疗中心柳州医院产科就诊的并行孕期超声诊断为胎儿鼻骨发育不良的432例孕妇作为研究对象,对其进行染色体核型分析和CNV-seq分析,并对其检测结果进行分析。结果432例病例中,核型分析共检出染色体核型异常36例(8.3%),其中非整倍体31例(7.2%),包括21-三体26例(6.0%),18-三体3例(0.69%),其他2例(0.46%);另有结构异常5例(1.2%);CNV-seq分析另检出15例CNVs(3.47%),包括5例(1.2%)致病性CNVs、10例(2.3%)临床意义未明CNVs。结论孕11~27周鼻骨发育不良是重要的染色体异常的重要依据,染色体核型和CNV-seq联合检测可有效提高染色体异常的检出率,可作为产前诊断的一线方法,有助于对染色体畸变及早诊断和干预,为遗传学咨询和生育指导提供一定的依据,减少出生缺陷的发生。

Objective To analyze the results of chromosome copy number variant sequencing(CNV-seq)combined with chromosome karyotype diagnosis for fetal nasal bone dysplasia 11 to 27 weeks of pregnancy.Methods A total of 432 cases which were diagnosed of hypoplastic nasal bone at the Department of Obstetrics,Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to December 2022 were retrospectively included as study subjects,the CNV-seq and chromosome karyotype analysis were conducted,and their detection results were analyzed.Results Of the 432 cases,36 cases(8.3%)were detected of chromosome abnormality by chromosome karyotype analysis,including 31 cases(7.2%)aneuploid,which consisted of 26 cases(6.0%)21-trisomy syndrome,3 cases(0.69%)18-trisomy syndrome and other 2 cases(0.46%);and also another 5 cases(1.2%)structural abnormality;15 cases(3.47%)CNVs were detected by CNV-seq analysis,including 5 cases(1.2%)pathogenic CNVs and 10 cases(2.3%)variant of uncertain significance(VOUS).Conclusion Pregnant 11-27 weeks of nasal bone dysplasia is an important basis of chromosome abnormalities,chromosome karyotype and CNV-seq joint detection can effectively improve chromosome abnormalities detection rate,can be used as a method of prenatal diagnosis,help to chromosome aberration early diagnosis and intervention,provide certain basis for genetics counseling and fertility guidance,reduce the occurrence of birth defects.