72名产前诊断患者羊水染色体VOUS异常分析  

Chromosomal VOUS anomaly analysis of 72 amniotic fluid samples with prenatal diagnosis

作　　者：王珺 陈书强 张振强 赵男 李懋 李博 WANG Jun;CHEN Shu-qiang;ZHANG Zhen-qiang;ZHAO Nan;LI Mao;LI Bo(Center for Reproductive Medicine,Department of Gynaecology and Obstetrics,Tang Du Hospital,The Air Force Military Medical University,Xi＇an 710038,China)

机构地区：[1]空军军医大学唐都医院妇产科生殖医学中心,西安710038

出　　处：《中国优生与遗传杂志》2018年第9期37-39,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(31640056);陕西省自然科学基金面上项目(2016JM8052)资助

摘　　要：目的探讨产前诊断中,高通量测序技术诊断为临床意义不明的染色体拷贝数变异(VOUS)的胎儿的临床结局,分析该技术应用于产前诊断的可行性及局限性。方法回顾2015年11月至2017年10月期间,我科产前诊断的72名羊水高通量测序结果为VOUS变异的病例,分析VOUS的分布、构成及其与新生儿随访结局的相关性。结果 72名羊水高通量测序结果为VOUS变异的孕妇,平均年龄(31.36±5.47)岁,孕周在16+2~30+5w之间。染色体VOUS变异涉及除13/19/20/22以外的其他20条染色体,检测结果以<1Mb的拷贝数变异为主(71.25%)。新生儿随访显示,68名孕妇均顺利生产无出生缺陷儿,3名孕妇引产,其中2名为超声结构异常引产,1名为染色体VOUS原因引产。结论高通量测序技术应用于产前诊断,阳性检出能力有较大提升,但随之增加的染色体VOUS,给遗传咨询带来很大难度,造成孕妇不同程度的焦虑及过度引产。本研究不但为我国本地数据库的完善及异常报告出具标准积累了一定的数据,也为临床遗传咨询提供了参考依据。Objective：To investigate the clinical outcome of fetuses with prenatal diagnosis and next generation sequencing technology diagnosed as variants of uncertain significance（VOUS）and to analyze the feasibility and limitations of this technique for prenatal diagnosis. Methods：Retrospective analysis of the mutation and the distribution of VOUS of 72 cases with diagnosis of amniotic fluid next generation sequencing in our department from November 2015 to October 2017,and its relationship with neonatal follow-up outcome were further analyzed. Results：72 pregnant women with amniotic fluid next generation sequencing results of VOUS mutation had a mean age of（31.36 ± 5.47）years and gestational age of 16^＋ 2 to 30^＋ 5 weeks. The chromosomal variation of VOUS involved 20 chromosomes except 13/19/20/22,and the detection results were mainly copy number variation of1 Mb（71.25%）. Neonatal follow-up showed that 68 pregnant women successfully produced children without birth defects and 3 pregnant women induced labor,two of them were caused by abnormal ultrasound structure and one was caused by chromosomal VOUS. Conclusion：Next generation sequencing technology used in prenatal diagnosis,positive detection capacity has greatly improved,but the consequent increase in chromosome VOUS,brings great difficulty to genetic counseling,resulting in varying degrees of anxiety in pregnant women and over induction of labor. This study not only provided the reference for the improvement of the local database in our country and the issuance of standards for abnormal reports,but also provided the reference for clinical genetic counseling.

关 键 词：临床意义不明染色体拷贝数变异 高通量测序 产前诊断 临床遗传咨询 

分 类 号：R714.55[医药卫生—妇产科学]