Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers.

IF 2.6 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis Pub Date : 2025-04-07 DOI:10.1002/jcla.70033

Lina Liu, Lingna She, Zhiyuan Zheng, Shuxian Huang, Heming Wu

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引用次数: 0

Abstract

Objective: To explore and evaluate the value of chromosomal microarray analysis (CMA) in fetuses with abnormal ultrasound soft markers.

Methods: A retrospective study was conducted on 193 fetuses with abnormal ultrasound soft markers who received prenatal diagnosis at Meizhou People's Hospital, between October 2022 and February 2024. Genetic detection of fetal specimens obtained by ultrasound-guided puncture was carried out. The detection rates of karyotype analysis and CMA for chromosomal abnormalities in different ultrasonic abnormalities were analyzed.

Results: Of the 193 fetuses, there were 77 (39.9%) fetuses with increased nuchal translucency(NT) thickness, 33 (17.1%) with ventriculomegaly, 29 (15.0%) with nasal bone hypoplasia, followed by choroid plexus cyst, pyelic separation, echogenic bowel, single umbilical artery, with persistent left superior vena cava, and persistent right umbilical vein. Aneuploidy was mainly found in fetuses with increased NT thickness or and nasal bone hypoplasia, while P/LP CNVs were mainly concentrated in fetuses with increased NT thickness or ventriculomegaly. The detection rate of karyotype was 5.7% (11/193), the detection rate of aneuploidy plus P/LP CNVs in fetuses with abnormal ultrasonic soft markers by CMA was 10.9% (21/193), and the additional detection rate of CMA was 5.2%.

Conclusions: CMA can significantly improve the detection rate of chromosomal abnormalities in fetuses with abnormal ultrasonic soft markers compared with karyotype analysis. There was a significant difference in detection rates of chromosomal abnormality between CMA and karyotype analysis in the single ultrasonic abnormality group, but none in the multiple ultrasonic abnormalities group.

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染色体微阵列分析及核型分析在胎儿超声软标记异常诊断中的应用。

目的：探讨染色体微阵列分析（CMA）在超声软标记物异常胎儿中的应用价值。方法：对2022年10月至2024年2月在梅州人民医院产前诊断的193例超声软标记异常胎儿进行回顾性分析。对超声引导穿刺胎儿标本进行遗传检测。分析不同超声异常中染色体异常的核型分析和CMA检出率。结果：193例胎儿中颈透（NT）增厚77例（39.9%），脑室肿大33例（17.1%），鼻骨发育不全29例（15.0%），其次为脉络膜丛囊肿、肾盂分离、回声肠、单一脐动脉、持续性左上腔静脉、持续性右脐静脉。非整倍体主要发生在NT厚度增加或鼻骨发育不全的胎儿中，而P/LP CNVs主要集中在NT厚度增加或脑室肥大的胎儿中。核型检出率为5.7%(11/193)，超声软标记异常胎儿非整倍体加P/LP CNVs的CMA检出率为10.9% (21/193)，CMA附加检出率为5.2%。结论：与核型分析相比，CMA可显著提高超声软标记异常胎儿染色体异常的检出率。单超声异常组CMA与核型分析的染色体异常检出率差异有统计学意义，多超声异常组无统计学意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Laboratory Analysis 医学-医学实验技术

CiteScore

5.60

自引率

7.40%

发文量

584

审稿时长

6-12 weeks

期刊介绍： Journal of Clinical Laboratory Analysis publishes original articles on newly developing modes of technology and laboratory assays, with emphasis on their application in current and future clinical laboratory testing. This includes reports from the following fields: immunochemistry and toxicology, hematology and hematopathology, immunopathology, molecular diagnostics, microbiology, genetic testing, immunohematology, and clinical chemistry.