染色体微阵列分析技术在孕妇羊水检测中的临床应用分析

摘要/Abstract

摘要： 目的探讨与分染色体微阵列分析（Chromosomal Microarray Analysis,CMA）技术在孕妇羊水检测中的临床应用价值。方法选取2023年1月—9月在伊犁哈萨克自治州妇幼保健院进行羊膜腔穿刺术的孕妇180例作为研究对象,抽取所有孕妇的羊水,分别进行核型分析与染色体微阵列分析,记录检测结果与随访妊娠结局。结果在180例孕妇中,核型分析判断为染色体异常13例,占比7.22%;染色体微阵列分析判断为染色体异常25例,占比13.89%,染色体微阵列分析对于染色体异常的检出率显著高于核型分析（P<0.05）。在180例孕妇中,染色体微阵列分析检出拷贝数变异21例,占比11.67%,其中致病性CNV 13例、临床意义不明确的CNV 7例,可能致病性CNV 1例。正常活产45例,结局异常135例（引产31例、胎死宫内9例、早产95例）。染色体微阵列分析显示正常活产的染色体异常与拷贝数异常率分别为4.44%、2.22%,都显著低于结局异常的17.04%、14.81%（P<0.05）。结论染色体微阵列分析技术在孕妇羊水检测中的临床应用可提高染色体异常的检出率,可检出拷贝数变异情况,从而指导分析妊娠结局。

关键词: 染色体微阵列分析技术, 孕妇, 羊水, 染色体异常, 拷贝数变异, 妊娠结局

Abstract: Objective To explore the clinical application values of chromosomal microarray analysis (CMA) technology in detecting amniotic fluid in pregnant women. Methods The study selected 180 pregnant women who underwent amniocentesis at the Maternal and Child Health Hospital of Ili Kazakh Autonomous Prefecture from January 2023 to September 2023 as the research subjects. The amniotic fluid of all pregnant women were extracted for karyotype analysis and chromosomal microarray analysis, and the test results and follow-up pregnancy outcomes were recorded. Results There were 13 cases (7.22%) were diagnosed as chromosomal abnormalities through karyotype analysis in the 180 cases; Chromosome microarray analysis identified 25 cases of chromosomal abnormalities, accounted for 13.89%. The detection rate of chromosomal abnormalities in chromosome microarray analysis were significantly higher than that in karyotype analysis (P<0.05). Among 180 pregnant women, chromosome microarray analysis detected copy number variations in 21 cases, accounting for 11.67%. Among them, there were 13 cases of pathogenic CNV, 7 cases of clinically unclear CNV, and 1 case of potentially pathogenic CNV. There were 45 cases of normal live births and 135 cases of abnormal outcomes (31 cases of induced abortions, 9 cases of intrauterine fetal deaths, and 95 cases of premature births). Chromosome microarray analysis showed that the rates of chromosomal abnormalities and copy number abnormalities in normal live births were 4.44% and 2.22%, respectively, which were significantly lower than 17.04% and 14.81% of abnormal outcomes (P<0.05). Conclusion The clinical application of chromosome microarray analysis technology in amniotic fluid detection of pregnant women can improve the detection rate of chromosomal abnormalities, detect copy number variations, and guide the analysis of pregnancy outcomes.

Key words: chromosome microarray analysis technology, pregnant women, amniotic fluid, chromosome abnormalities, copy number variation, pregnancy outcome

中图分类号:

R714.5

赵龙. 染色体微阵列分析技术在孕妇羊水检测中的临床应用分析[J]. 中华养生保健, 2025, 43(1): 63-66.

ZHAO Long. Clinical Application Analysis of Chromosome Microarray Analysis Technology in Amniotic Fluid Detection of Pregnant Women[J]. ZHONGHUA YANGSHENG BAOJIAN, 2025, 43(1): 63-66.

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