The OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalances and pathogenic copy number variants (pCNV). The small size of molecular inversion probes is optimal for SNP genotyping of fragmented DNA from fixed tissues. This retrospective study evaluated the clinical utility of OMA as a uniform platform to detect cytogenomic abnormalities for pregnancy loss from fresh and fixed tissues of products of conception (POC). Fresh specimens of POC were routinely subjected to cell culture and then analyzed by karyotyping. POC specimens with a normal karyotype (NK) or culture failure (CF) and from formalin-fixed paraffin-embedded (FFPE) tissues were subjected to DNA extraction for OMA. The abnormality detection rate (ADR) by OMA on 94 cases of POC-NK, 38 cases of POC-CF, and 35 cases of POC-FFPE tissues were 2% (2/94), 26% (10/38), and 57% (20/35), respectively. The detected cytogenomic abnormalities of aneuploidies, triploidies and pCNV accounted for 50%, 40% and 10% in POC-CF and 85%, 10% and 5% in POC-FFPE, respectively. False negative result from cultured maternal cells and maternal cell contamination were each detected in one case. OMA on two cases with unbalanced structural chromosome abnormalities further defined genomic imbalances and breakpoints. OMA on POC-CF and POC-FFPE showed a high diagnostic yield of cytogenomic abnormalities. This approach circumvented the obstacles of CF from fresh specimens and fragmented DNA from fixed tissues and provided a reliable and effective platform for detecting cytogenomic abnormalities and monitoring true fetal result from maternal cell contamination.

中文翻译：

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通过福柯林固定石蜡包埋的和新鲜胎儿组织中的受孕产物，通过OncoScan芯片检测法检测细胞基因组异常

使用高度复用的分子倒置探针进行单核苷酸多态性（SNP）位点的OncoScan微阵列测定（OMA），能够检测染色体失衡和致病性拷贝数变异（pCNV）的细胞基因组异常。分子倒置探针的小尺寸最适合固定组织中片段DNA的SNP基因分型。这项回顾性研究评估了OMA作为一个统一平台的临床实用性，该平台可用于检测来自意向产品（POC）的新鲜组织和固定组织的妊娠丢失的细胞基因组异常。常规对新鲜的POC标本进行细胞培养，然后进行核型分析。具有正常染色体核型（NK）或培养失败（CF）且来自福尔马林固定石蜡包埋（FFPE）组织的POC标本经过DNA提取以用于OMA。OMA对94例POC-NK，38例POC-CF和35例POC-FFPE组织的异常检测率（ADR）分别为2％（2/94），26％（10/38）和分别为57％（20/35）。检测到的非整倍体，三倍体和pCNV的细胞基因组异常分别在POC-CF中占50％，40％和10％，在POC-FFPE中分别占85％，10％和5％。在一种情况下，分别检测到由培养的母体细胞产生的假阴性结果和母体细胞污染。在结构染色体异常不平衡的两个案例中，OMA进一步定义了基因组失衡和断点。在POC-CF和POC-FFPE上的OMA显示出较高的细胞基因组异常诊断率。