染色体微阵列分析在580例胎儿超声异常产前诊断中的应用价值  

The Application of Chromosomal Microarray Analysis in the Prenatal Diagnosis of 580 Fetal Ultrasound Abnormalities

作　　者：林堃 黄洁香 胡聪颖 黄敏君 林荔[1] 陈明桥 LIN Kun;HUANG Jiexiang;HU Congying;HUANG Minjun;LIN Li;CHEN Mingqiao(Prenatal Diagnosis Center of the Affiliated Hospital of Putian University,Putian 351100,China;Department of Medical Laboratory,School of Pharmacy and Medical Technology,Putian University,Putian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,莆田351100 [2]莆田学院药学与医学技术学院医学检验系,莆田351100

出　　处：《福建医科大学学报》2024年第3期206-212,共7页Journal of Fujian Medical University

基　　金：福建省卫生健康科技计划重大科研专项(2021ZD01002)。

摘　　要：目的探讨染色体微阵列分析技术(CMA)在不同种类胎儿超声异常产前诊断中的应用价值。方法回顾性分析2020年1月—2023年12月因胎儿超声检查异常在产前诊断中心同时行G显带染色体核型分析和CMA检测的580例羊水样本的检测结果,随访CMA阳性病例的妊娠结局。结果580例中,CMA检测阳性90例,阳性率15.5%,较染色体核型分析的阳性率(34例,5.9%)提高了9.6%(χ^(2)=28.3,P<0.001)。580例中,超声结构异常167例,其中CMA检测阳性25例(阳性率15.0%),腹部异常以及呼吸、骨骼、神经和心血管等系统异常的阳性率分别为33.3%、29.4%、16.7%、16.7%和14.3%;超声非结构异常413例,其中CMA检测阳性65例(阳性率15.7%),多发软指标异常、孤立软指标中的脉络丛囊肿和颈项透明层(NT)增厚阳性率依次为23.9%、20.0%和18.6%。随访90例CMA阳性病例的妊娠结局,其中正常活产42例,引产36例,胎停2例,出生后异常5例,未出生5例。结论在胎儿超声异常的产前诊断中,CMA技术可弥补染色体核型分析技术的局限性;超声检查发现胎儿存在孤立/多发结构异常或超声软指标异常时,推荐行CMA检测;临床意义不明的拷贝数变异需要结合本地随访结局数据并查阅最新文献进行遗传咨询。Objective It is to evaluate the clinical application value of chromosome microarray analysis(CMA)in the prenatal diagnosis of fetuses with various types of ultrasound abnormalities.Methods The G-banded karyotyping and CMA results of 580 amniotic fluid samples from pregnant women with fetal ultrasound abnormalities from January 2020 to December 2023 were retrospectively analyzed and the pregnancy outcomes of CMA-positive cases were followed up.Results Of the 580 cases,90 amniotic fluid samples were positive for CMA testing,a positive rate of 15.5%,which was 9.6%higher than the positive rate of chromosomal karyotyping(34 cases,5.9%)(χ^(2)=28.3,P<0.001).In the 167 ultrasound structural abnormalities,25 cases were positive for CMA testing(a positive rate of 15.0%),and the positive rates for abdominal,respiratory,skeletal,neurological,and cardiovascular abnormalities were 33.3%,29.4%,16.7%,16.7%and 14.3%,respectively;in the 413 ultrasound structural abnormalities,65 cases were positive for CMA testing(a positive rate 15.7%),multiple ultrasound soft markers abnormalities,choroid plexus cysts and nuchal translucency(NT)thickening of isolated ultrasound soft marker abnormalities were at 23.9%,20.0%and 18.6%,respectively.The pregnancy outcomes of 90 CMA-positive cases were followed up,including 42 normal births,36 induced deliveries,2 fetal arrests,5 postnatal abnormalities and 5 unborn cases.Conclusions In the prenatal diagnosis of fetuses with ultrasound abnormalities,CMA can compensate for the limitations of chromosome karyotype analysis;CMA testing is recommended when ultrasound examination reveals isolated/multiple structural abnormalities or soft ultrasound markers in the fetus,;copy number variants of uncertain significance(VOUS)require genetic counseling in conjunction with local follow-up outcome data and literature review.

关 键 词：染色体微阵列分析 超声异常 G显带染色体核型分析 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]