摘要
目的探讨扩展性无创产前检测(NIPT-plus)在筛查染色体微缺失/重复综合征(MMS)上的应用。方法选取中山大学附属第一医院2018年1月至2020年12月3860例孕妇及2022年10例室间质评样本的NIPT和NIPT-plus检测结果,其中24例孕妇进行染色体微阵列分析(CMA)产前诊断。结果24例孕妇及10例质评样本NIPT-plus游离DNA浓度明显高于NIPT,总测序数据量提高了1.39~1.58倍,有效测序数据量提高了1.20~1.35倍;24例孕妇样本NIPT-plus提示1例18-三体,1例21-三体,2例MMS,NIPT提示1例18-三体,1例21-三体;10例质评样本NIPT-plus提示9例MMS且9号样本同时存在性染色体非整倍体(SCAs),NIPT仅提示1例SCAs。结论在本院系统检测范围内NIPT-plus能有效应用于MMS的筛查,减少出生缺陷。
Objective To explore the application of expanded non-invasive prenatal testing(NIPT-plus)in screening chromosome microdeletion/microduplication syndrome(MMS).Methods The NIPT and NIPT plus test results of 3860 pregnant women from January 2018 to December 2020 in the First Affiliated Hospital of Sun Yat sen University and 10 samples from the room quality assessment in 2022 were se-lected.Among them,24 pregnant women underwent prenatal diagnosis by chromosome microarray analysis(CMA)were involved.Results The concentration of fetal free DNA of NIPT-plus in 24 pregnant women and 10 quality evaluation samples was significantly higher than that in NIPT.The total sequencing data increased by 1.39~1.58 times,and the effective sequencing data increased by 1.20~1.35 times.NIPT plus of 24 pregnant women samples showed 1 trisomy 18,1 trisomy 21,2 MMS,NIPT showed 1 trisomy 18,1 trisomy 21;NIPT plus of 10 quality evaluation samples showed 9 MMS and 9th sample had sex chromosome aneuploidies(SCAs),while NIPT only showed 1 case of SCAs.Conclusion NIPT plus can be effectively applied to the screening of MMS within the scope of our hospital's system detection to reduce birth defects.
作者
陈英
童晓青
余学高
黄浩
黄彬
陈培松
CHEN Ying;TONG Xiaoqing;YU Xuegao;HUANG Hao;HUANG Bin;CHEN Peisong(Department of Laboratory Medicine,Hainan Provincial People's Hospital,Haikou,Hainan,China,570311;Department of Laboratory Medicine,the First Affiliated Hospital of Sun Yat sen University,Guangzhou,Guangdong,China,510000)
出处
《分子诊断与治疗杂志》
2024年第1期10-14,共5页
Journal of Molecular Diagnostics and Therapy
基金
海南省临床医学中心建设项目(琼卫医函[2021]276号)。
