Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age

IF 2.6 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis Pub Date : 2025-04-17 DOI:10.1002/jcla.70020

Caihong Liu, Yan Lu, Baohui Zhang, Liucui Yu, Jing He, Yan Ji

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引用次数: 0

Abstract

Objective

To explore the application and value of chromosomal karyotype analysis combined with Chromosomal Microarray Analysis (CMA) in the amniotic fluid of advanced maternal age.

Methods

A total of 817 advanced maternal age (AMA) who underwent amniocentesis at the Prenatal Diagnosis Center of Huizhou Central People's Hospital between January 2018 and July 2024 were enrolled in this study. The women were grouped based on different age ranges and prenatal diagnosis factors. These groups were used to compare the detection rates and differences between chromosomal karyotype analysis and CMA.

Result

The overall chromosomal abnormality rates detected by karyotype analysis in the 35–39 years age group and the ≥ 40 years age group were 8.81% and 13.79%, respectively, with a statistically significant difference (p < 0.05). For CMA, the overall abnormality rates in the same age groups were 10.79% and 15.33%, respectively, but the difference was not statistically significant (p > 0.05). The non-solely advanced-age group (those with additional factors beyond just advanced age) had higher overall chromosomal abnormality rates, aneuploidy rates, structural abnormality rates, and mosaicism rates compared to the solely advanced-age group, with statistically significant differences (p < 0.05). Additionally, the non-solely advanced-age group had a higher overall abnormality rate detected by CMA compared to the solely advanced-age group, with a statistically significant difference (p < 0.05). However, there were no statistically significant differences between the two groups in terms of the detection of pathogenic, likely pathogenic, and variants of uncertain significance (p > 0.05). In this study, a total of 68 cases were identified where the results of karyotype analysis and CMA were inconsistent.

Conclusion

The overall abnormal rate of chromosomal karyotype analysis increases with maternal age, while the overall abnormal rate of CMA shows no significant correlation with maternal age. The abnormal rates are significantly higher in AMA with additional factors. The combination of chromosomal karyotype analysis and CMA can validate and complement each other, thereby improving the detection rates of chromosomal abnormalities in amniotic fluid samples of AMA. This provides a diagnostic basis for subsequent pregnancy choices, which effectively reduces the birth of fetuses with chromosomal abnormalities and enhances population quality.

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染色体核型分析结合染色体微阵列分析在高龄产妇羊水中的应用

目的探讨染色体核型分析联合染色体微阵列分析（CMA）在高龄产妇羊水中的应用及价值。方法选择2018年1月至2024年7月在惠州市中心人民医院产前诊断中心行羊膜穿刺术的高龄产妇（AMA） 817例。根据不同的年龄范围和产前诊断因素对妇女进行分组。这些组用来比较染色体核型分析与CMA的检出率和差异。结果35 ~ 39岁组和≥40岁组核型分析总染色体异常检出率分别为8.81%和13.79%，差异有统计学意义（p < 0.05）。同一年龄组CMA总体异常率分别为10.79%和15.33%，差异无统计学意义（p > 0.05）。与单纯高龄组相比，非单纯高龄组（除高龄外的其他因素）的总体染色体异常率、非整倍体率、结构异常率和镶嵌率更高，差异有统计学意义（p < 0.05）。非单纯高龄组CMA总异常检出率高于单纯高龄组，差异有统计学意义（p < 0.05）。但两组在致病性、可能致病性和不确定意义变异的检出率方面差异无统计学意义（p > 0.05）。本研究共鉴定了68例核型分析结果与CMA不一致的病例。结论染色体核型分析总体异常率随母亲年龄增加而增加，而CMA总体异常率与母亲年龄无显著相关性。AMA的异常率明显高于其他因素。染色体核型分析与CMA结合可相互验证和互补，从而提高AMA羊水样本染色体异常的检出率。为后续妊娠选择提供诊断依据，有效减少染色体异常胎儿的出生，提高人口质量。

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.