NT增厚在产前诊断中的临床价值及对妊娠结局的影响  

Effect of the Clinical Value of NT Thickening In Prenatal Diagnosis and Pregnancy Outcomes

作　　者：张宏飞 张俊绘 ZHANG Hongfei;ZHANG Junhui(BaotouMedical School,InnerMongolia University of ScienceandTe chnology,Baotou 014040 China;Inner Mongolia Maternal and Child Health Hospital,Hohhot 010020 China)

机构地区：[1]内蒙古科技大学包头医学院,内蒙古包头014040 [2]内蒙古自治区妇幼保健院产科,呼和浩特010020

出　　处：《内蒙古医学杂志》2025年第2期140-143,147,共5页Inner Mongolia Medical Journal

基　　金：内蒙古自治区自然科学基金项目(编号:2018LH08019)。

摘　　要：目的研究颈项透明层(NT)增厚在产前诊断中的临床价值及对妊娠结局的影响。方法回顾性分析2019年6月至2023年3月于我院就诊的超声提示NT增厚并同意接受产前诊断的270例单胎孕妇的临床资料。按结果分成染色体核型组、染色体微阵列分析(CMA)组与联合组,分析NT增厚的胎儿染色体异常率与不良妊娠结局率。根据国内外研究,将NT增厚的程度分成6组,NT厚度2.5~2.9 mm为组1(n=40),3.0~3.4 mm为组2(n=114),3.5~3.9 mm为组3(n=55),4.0~4.4 mm为组4(n=32),4.5~4.9 mm为组5(n=12),≥5.0 mm为组6(n=17)。分析NT增厚程度与胎儿染色体异常、结构异常的关系。选择继续妊娠者(羊水穿刺正常即染色体正常),追踪中孕期胎儿系统超声的检查结果,确定胎儿有无结构异常,并随访至分娩或引产结束。结果本研究共270例孕妇,经组间比较,胎儿染色体异常检出率差异有统计学意义(P<0.05),即随NT增厚,胎儿染色体异常的发生率增加。胎儿结构异常检出率差异无统计学意义(P>0.05)。染色体核型组共检出染色体异常46例(17.41%);CMA组检出染色体异常52例(19.26%),CMA组较染色体核型组额外检出6例(1.85%)染色体异常(P=0.166);联合组检出染色体异常56例(27.11%),较染色体核型组检出率升高3.70%(P=0.042),与CMA组比较检出率升高1.48%(P=0.462)。结论随着NT厚度的增加,胎儿染色体异常率增加,胎儿不良妊娠结局发生率升高;染色体核型分析与CMA联合应用,可提高NT增厚胎儿染色体异常检出率,二者优势互补、互为验证,可为产前遗传筛查提供参考依据,进而减少新生儿的出生缺陷。Objective This article examines the clinical value of nuchal translucency(NT)thickening in prenatal diagnosis and the effect of pregnancy outcomes.Methods An analysis of 270 pregnant women with NT thickening from June 2019 to March 2023 in Maternal and Child Health Hospital of Inner Mongolia Autonomous Region underwent karyotype analysis and Chromosomal Microarray Analysis(CMA)at the same time.According to domestic and international studies,the degree of NT thickening was divided into 6 groups,NT thickness 2.5~2.9 mm was group 1(n=40),3.0~3.4 mm was group 2(n=114),3.5~3.9 mm was group 3(n=55),4.0~4.4 mm was group 4(n=32),4.5~4.9 mm was group 5(n=12),and≥5.0 mm was group 6(n=17),the relationship between NT thickening and fetal chromosomal abnormalities and structural abnormalities was analyzed.Patients who continue to have a pregnancy(normal amniocentesis,i.e.,normal chromosomes)are selected to follow the results of fetal system ultrasound during pregnancy to determine whether the fetus has structural abnormalities.and follow-up until the end of labor or induction.Results A total of 270 cases were found in this study,and there was a statistically significant difference in the detection rate of fetal chromosomal abnormalities(P<0.05),that is,the incidence of fetal chromosomal abnormalities increased with the increase of NT value.There was no statistically significant objection to the detection rate of fetal structural abnormalities(P>0.05).A total of 46 cases(17.41%)of chromosomal abnormalities were detected in the karyotyping group,52 cases(19.26%)were detected in the CMA group,6 cases(1.85%)were detected in CMA compared with karyotype analysis(P=0.166),56 cases of chromosomal abnormalities were detected in the combined group(27.11%),which was 3.70%higher than that in the karyotype group(P=0.042),and 1.48%higher than that in the CMA group(P=0.462).Conclusion The combined application of karyotype analysis and microarray technology can improve the detection rate of chromosomal abnormalities in fetuses with NT thic

关 键 词：胎儿染色体异常 微阵列 核型分析 NT增厚 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]