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Updated: Jan 18, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

在高风险怀孕中产前微阵列的诊断实用性:提高生殖护理和风险分层的单中心经验

Abdullatif Bakır¹, Mustafa Tarık Alay¹, Umut Can Tekbaş¹

¹Department of Medical Genetics, Ankara Etlik City Hospital, Ankara 06170, Turkey.

Diagnostics (Basel, Switzerland)

|September 13, 2025

概括

染色体微阵列分析 (CMA) 通过检测常规型化错过的小副本数变异 (CNVs) 来显著改善产前诊断. 这提高了胎儿结构异常的准确性,支持常规遗传评估.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
基因组医学是基因组医学.

背景情况:

产前细胞遗传检测对于识别胎儿染色体异常至关重要.
传统的型检测可以检测出大规模的重排 (>5-10 Mb).
染色体微阵列分析 (CMA) 识别了较小的副本数变异 (CNV),使诊断产量增加了5%左右.

研究的目的:

评估CMA的诊断实用性,与在产前样本中的常规心型鉴定相比.
为了确定病原性CNVs被kariotyping遗漏的率.

主要方法:

分析了344个产前样本,使用传统的型和基于SNP的CMA (GSA-Cyto on Illumina iScan).
使用NxClinical v6.0和精心策划的数据库 (ClinVar,DECIPHER,OMIM,ClinGen) 的CNV解释.
与GRCh37/hg19参考基因组对齐.

主要成果:

在16.5% (57/344) 的病例中检测到染色体异常.
包括39个数值异常和18个致病性/可能致病性CNV.
11个CNV (3.2%) 无法通过常规化类型检测来检测.

结论:

通过检测亚微观CNVs,CMA显著提高了产前诊断的准确性.
CMA识别了传统方法错过的变异,提高了检测率.
支持CMA在产前遗传评估中的常规使用.

关键词:

氨基缩症是什么意思胆膜取样本采集胆膜取样本采集胎儿血液采样胎儿血液采样微阵列分析分析的方法在产前诊断产前诊断

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