[The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2020-04-10 DOI:10.3760/cma.j.issn.1003-9406.2020.04.007

Huihua Rao, Yanqiu Liu, Qing Lu, Ning Huang, Jihui Zhou

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Abstract

Objective: To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) for prenatal diagnosis.

Methods: G-banding karyotyping and CMA were simultaneously performed on 546 women who were subjected to amniocentesis during middle pregnancy.

Results: In total 82 cases were detected with chromosomal abnormalities. The two methods were consistent in 43 cases, which included 14 trisomy 21, 6 trisomy 18, 1 trisomy 13, 14 sex chromosomal aneuploidies, 4 chromosomal deletions, 3 chromosomal duplications and 1 sex chromosomal mosaicism. Fifteen fetuses with chromosomal abnormalities detected by CMA were missed by karyotyping analysis, which included 9 microdeletions and 6 microduplications. Sixteen fetuses with chromosomal abnormalities detected by karyotyping analysis were missed by CMA, which included 15 chromosomal translocations and 1 sex chromosomal mosaicism. In 7 cases, the results of karyotyping analysis and CMA were inconsistent. One supernumerary marker chromosome detected by karyotyping analysis was verified by CMA as 9p13.1p21.1 duplication.

Conclusion: Combined chromosomal karyotyping and CMA can significantly improve the detection rate for chromosomal abnormalities, which has a great value for prenatal diagnosis.

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染色体核型与染色体微阵列分析联合应用在产前诊断中的价值

目的:探讨染色体核型和染色体微阵列分析(CMA)在产前诊断中的应用价值。方法:对546例中期妊娠行羊膜穿刺术的妇女同时进行g带核型和CMA分析。结果:共检出染色体异常82例。其中21三体14例，18三体6例，13三体1例，性染色体非整倍体14例，染色体缺失4例，染色体重复3例，性染色体嵌合1例。15例CMA检出染色体异常的胎儿，核型分析遗漏9例，微缺失6例。CMA遗漏了16例染色体异常胎儿，其中染色体易位15例，性染色体嵌合1例。7例患者核型分析结果与CMA不一致。核型分析检测到1条多余的标记染色体，经CMA验证为9p13.1p21.1重复。结论:染色体核型与CMA结合可显著提高染色体异常检出率，对产前诊断具有重要价值。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.