染色体自动采集在产前核型分析中的临床应用评价。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2023-07-01 DOI:10.1089/gtmb.2023.0047
Yunmeng Wang, Yifan Feng, Chanchan Ma, Jing Zhao, Shiying Sun
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引用次数: 0

摘要

目的:评价自动染色体采集器在羊水细胞染色体分离中的临床应用价值。方法:收集2022年6月至7月在产前诊断和生殖中心接受治疗的17至25周的96例高危孕妇的羊水样本。这些样本进行了手动和自动染色体采集,并对采集时间和羊水细胞数量进行了比较。然后使用自动染色体核型分析系统扫描核型,将这些染色体用于产生每个样本的核型数据。结果:每个样本的平均自动采集时间为3.92 min,显著低于人工收割的7.89 最小值(p 6件)与手动组(2.10 × 106件;p p > 0.05)。然而,使用自动收获机获得的可分析核型的数量显著高于手动收获机(p 结论:全自动染色体采集机可以有效地节省时间、人工和耗材,采集更多的可分析核型,提高临床诊断效率。自动染色体收获器具有高度稳定性和可重复性,有助于实现大规模标准化染色体收获的潜力,值得临床广泛推广。
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Evaluating the Clinical Application of Automatic Chromosome Harvesting for Prenatal Karyotype Analysis.

Objective: The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. Methods: Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These samples underwent both manual and automatic chromosome collection, and their harvest time and number of amniotic cells were compared. These chromosomes were then used to produce karyotypic data for each sample using an automatic chromosomal karyotype analysis system, scan karyotype. Results: The average automatic harvesting time per sample, 3.92 min, was significantly lower than that of the manual harvesting, 7.89 min (p < 0.001). In addition, the average number of cells from the automatic harvesting (4.16 × 106 pieces) was significantly increased when compared with those of the manual group (2.10 × 106 pieces; p < 0.001). Further karyotyping revealed that both sets of chromosomes produced clear bands and good dispersion data, producing no significant differences in these evaluations (p > 0.05). However, the number of analyzable karyotypes obtained using the automatic harvester was significantly higher than those of the manual harvesting (p < 0.001). Conclusions: The automatic chromosome harvester can effectively save time, manual labor and consumables, harvest more analyzable karyotypes, and improve the efficiency of clinical diagnosis. The automatic chromosome harvester is highly stable and repeatable, which has the potential to help achieve large-scale standardized chromosome harvesting and is worthy of widespread clinical promotion.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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