低深度染色体拷贝数变异检测结合细胞学检测在产前诊断中的应用探讨  

Application of low-depth cnv detection combined with cytology in prenatal diagnosis

作　　者：赵少翠 孙淑湘[1] 孙铁兰[1] 曾钦龙 凌颖聪[1] ZHAO Shao-cui;SUN Shuxiang;SUN Tie-lan;ZENG Qin-long;LING Ying-cong(Jiangmen Maternal and Child Health Care Hospitals Jiangmen,Guangdong 529000)

机构地区：[1]江门市妇幼保健院

出　　处：《中国优生与遗传杂志》2019年第8期921-924,928,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨染色体拷贝数变异检测(NGS-CNVs)结合细胞学检测方法在产前诊断中的应用价值探讨。方法 2017年9月至2018年9月因不同指征到我院产前诊断中心行有创产前诊断的536例,其中347例妊娠16~34^+w孕妇选择行产前NGS-CNVs检测结合细胞学方法检测的结果分析。结果选择产前NGS-CNVs检测结合细胞学检测方法的有347例,检出致病病例22例(其中包括:21三体6例、18三体2例、13三体1例、XXX综合征2例、XXY综合征1例、XYY/XY嵌合1例、8例微缺失/微重复综合征),致病性嵌合1例;可疑致病8例,意义不明3例,多态性35例;NGS-CNVs检测联合产前细胞核型分析及细胞间期荧光原位杂交检测结合共2例,异常2例。结论孕期发现胎儿产前筛查异常,需要行有创产前诊断,明确胎儿是否存在异常,NGS-CNVs联合细胞学检测方法能提高胎儿染色体异常诊断的准确性,减少漏诊,有效降低出生缺陷率。Objective:To explore the application value of chromosome copy number variation(NGS-CNVs)combined with cytology in prenatal diagnosis. Methods:From September 2017 to September 2018,536 cases were admitted to the prenatal diagnosis center of our hospital for invasive prenatal diagnosis due to different indications,among which 347 cases of pregnant women at 16~34 weeks of gestation were selected for prenatal ngs-cnvs detection combined with cytology analysis. Results:There were 347 cases of prenatal NGS-CNVs combined with cytology,and 22 cases ofpathogenicity were detected(including 6 cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,2 cases of XXX syndrome,1 case of XXY syndrome,1 case of XYY/XY chimerism,8 cases of microdeletion/microduplication syndrome),and 1 case of pathogenicity chimerism.There were 8 cases of suspected pathogenicity,3 cases of unknown significance and 35 cases of polymorphism.There were 2 cases of NGS-CNVs combined with prenatal karyotype analysis and intercellular fluorescence in situ hybridization,and 2 cases were abnormal. Conclusion:Invasive prenatal diagnosis should be carried out when fetal prenatal screening abnormality is found during pregnancy to clarify whether there is abnormality in the fetus. NGS-CNVs combined withcytological detection method can improve the accuracy of diagnosis of fetal chromosomal abnormality,reduce missed diagnosis and effectively reduce the birth defect rate.

关 键 词：CNVs 细胞学 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]