颈项透明层增厚胎儿的绒毛染色体及微阵列结果分析  

Analysis of villous chromosomes and microarray results of fetuses with thickened nuchal translucency

作　　者：刘建珍[1] 林铿[1] 许碧秋 孟祥荣 李熹翀 鞠爱萍[1] 覃燕龄 陈鸿桢 LIU Jianzhen;LIN Keng;XU Biqiu;MENG Xiangrong;LI Xichong;JU Aiping;QIN Yangling;CHEN Hongzhen(Clinical Laboratory,Huadu Maternity and Child Healthcare Hospital,Guangzhou,Guangdong,China,510800)

机构地区：[1]广州市花都区妇幼保健院检验科,广东广州510800

出　　处：《分子诊断与治疗杂志》2024年第3期553-556,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：目的 探讨核型分析及染色体微阵列分析(CMA)技术在颈项透明层(NT)增厚胎儿产前诊断中的应用价值,评价NT增厚在产前筛查中的作用。方法 选取2018年1月至2020年12月孕11~13+6周在广州市花都区妇幼保健院筛查NT增厚(NT≥2.5 mm)胎儿137例,经胎盘绒毛穿刺,行“核型分析+CMA”检测,按NT值和临床指征分组,分别分为2.5~2.9 mm、3.0~3.9 mm、4.0~4.9 mm、NT≥5.0 mm组和孤立性NT增厚组、非孤立性NT增厚组,分析各组核型分析和CMA结果。结果 核型分析检出率为10.95%(15/137),CMA检出率为16.79%(23/137),CMA联合核型分析异常检出率为18.25%(25/137)。2.5~2.9 mm、3.0~3.9 mm、4.0~4.9 mm、NT≥5.0 mm组的检出率分别为7.89%(3/38)、8.20%(5/61)、33.33%(7/21)、52.94%(9/17),各组间差异有统计学意义(χ^(2)=22.54,P<0.05)。孤立性NT增厚组和非孤立性NT增厚组的检出率分别为12.24%(12/98)和26.67%(12/45),差异有统计学意义(χ^(2)=4.59,P<0.05)。结论 染色体核型分析联合CMA技术能提高NT增厚胎儿异常检出率,染色体异常发生率随NT值增高及合并其他超声异常明显增高。Objective To explore the application value of karyotype analysis and chromosome mi-croarray analysis(CMA)technology in fetal prenatal diagnosis of increased nuchal translucency(NT),and to evaluate the role of increased NT in fetal chromosome abnormality screening.Methods A total of 137 fetuses with thickened NT(NT≥2.5 mm)were screened at Guangzhou Huadu District Maternal and Child Health Hos-pital between January 2018 and December 2020 at 11 to 13+6 weeks of gestation,and transplacental chorionic puncture was performed to perform“karyotyping.”by placental villus aspiration and were divided into 2.5~2.9 mm,3.0~3.9 mm,4.0~4.9 mm,NT≥5.0 mm group,isolated NT thickening group and non-isolated NT thicken-ing group,respectively.The karyotyping and CMA results were analyzed.Results The detection rate of chro-mosome karyotype analysis was 10.95%(15/137),while CMA was 16.79%(23/137).The abnormal detection rate of CMA combined with karyotype analysis was 18.25%(25/137).Detection rates for NT measurements of 2.5~2.9 mm,3.0~3.9 mm and 4.0~4.9 mm,NT≥5.0 mm were 7.89%(3/38),8.20%(5/61),33.33%(7/21),and 52.94%(9/17),respectively(χ^(2)=22.54,P<0.05).The detection rates of pure increased NT and increased NT combined with other abnormalities were 12.24%(12/98)and 26.67%(12/45),respectively,with a statisti-cally significant difference(χ^(2)=4.59,P<0.05).Conclusion Combining chromosomal karyotyping with CMA can enhance the detection rate of fetal abnormalities associated with NT thickening.The incidence of chromosom-al abnormalities rises significantly with higher NT values and other ultrasound abnormalities.

关 键 词：颈项透明层厚度 核型分析 染色体微阵列 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]