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恭喜金诺诊断CAP-PT CYCGH-B 2023年顺利通过考核!


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      近日,美国病理学家协会(College of American Pathologists, CAP)公布了“2023年第二次染色体芯片分析项目(CYCGH)能力验证(Proficiency Testing,PT)”项目成绩,金诺诊断再次以优异成绩顺利通过考核!

      胎儿发育异常与遗传缺陷密切相关。研究显示,产前胎儿超声结构异常(如先天性心脏畸形、颅面畸形)、软指标异常(如羊水过多或过少、NT增厚)、宫内发育迟缓等均提示与染色体异常相关。在超声检测异常的胎儿中,6%-17%由染色体异常所致;其中30%以上属于染色体微缺失/微重复变异。[1-3]

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图1.染色体异常在不同胎儿发育异常中的检出率[4-9]


关于染色体芯片分析项目

       JunoArray®染色体芯片分析是一项能够在全基因组范围内检测拷贝数变异(copy number variant,CNV)的新型分子诊断技术。与传统核型分析不同,CMA能够针对全基因组范围内的染色体单体、染色体三体、微缺失/微重复、杂合性丢失(regions of homozygosity,ROH)以及单亲二体(Uniparental Disomy,UPD)等多种类型的染色体异常进行高效、准确、全面的检测,辅助临床疾病的病因学诊断。国内外权威指南和专家共识,均推荐CMA作为胎儿超声结构异常的一线检测手段。


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       2023年,是金诺诊断参加CAP能力认证的第6年,金诺诊断将继续用高质量的产品和高效能的服务,大力提升每个人的生活品质;通过技术和模式创新,挖掘医疗大数据蕴含的深层次价值,成为大数据驱动的创新型医学诊断公司。让精准医疗呵护每个人的健康。


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参考文献

1. Shaffer L G, Dabell M P, Fisher A J, et al. Experience with microarray-based comparative genomic hybridization for2prenatal diagnosis in over 5000 pregnancies[J]. Prenatal diagnosis, 2012, 32(10): 976-985.

2. Lee C N, Lin S Y, Lin C H, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: 8cohort study of 317l pregnancies J . BJOG: An International Journal of Obstetrics & Gynaecology, 2012, 1195): 614-625.

3. Breathnach F M, Fleming A, Malone F D. The second trimester genetic sonogramlCJ//American Journal of Medica4Genetics Part C: Seminars in Medical Genetics. Hoboken: Wiley Subscription Services, Inc. A Wiley Company. 2007145(1): 62-72.

4. Wang Y, Cao L, Liang D, et al. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: aprospective cohort study. Am J Obstet Gynecol. 2018 Feb;218(2):244.e1-244.e17.

5. Xu C, Xiang Y, Xu X,et al. Clinical application of chromosomal microarray analysis for fetuses with craniofacialmalformations.Mol Cytogenet.2020;13:38.

6. Hu T, Zhang Z, Wang J, et al. Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysisin in fetuses with ultrasound anomalies in the urinary system. Prenat Diagn. 2019 Nov:39(12):1096-1106.

7. Sun L, Wu Q, Jiang SW,et al. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. Biomed Res Int 2015;2015:426379.

8. Liu Y, Wang L,Yang YK,et al. Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases. Diagn Pathol.2019:14(1):76.

9. Sagi-Dain L, Vig L C, Kahana S, et al. Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.Genetics in Medicine,2019,21(11):2462-2467.