发展一种用于检测福尔马林固定、石蜡包埋的胚胎标本异常的染色体微阵列检测技术。

Development of a Chromosomal Microarray Test for the Detection of Abnormalities in Formalin-Fixed, Paraffin-Embedded Products of Conception Specimens.

机构信息

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

出版信息

J Mol Diagn. 2017 Nov;19(6):843-847. doi: 10.1016/j.jmoldx.2017.07.001. Epub 2017 Aug 12.

Abstract

Testing the products of conception (POCs) provides information about the cause of fetal loss and helps determine the recurrence risk of future losses and chromosome abnormalities in subsequent pregnancies. Historically, the Mayo Clinic Cytogenetics Laboratory performed targeted fluorescent in situ hybridization (FISH) testing to identify aneuploidy of only certain chromosomes in formalin-fixed, paraffin-embedded (FFPE) POC samples. Chromosomal microarray studies using the Affymetrix OncoScan FFPE Assay can detect copy number changes across the genome. We validated the utility of the OncoScan assay using 25 archival FFPE POC specimens with previous FISH results (five normal, 12 trisomy, six triploidy, two monosomy). Of the five normal samples, four had no clinically relevant findings, and one sample was found to have trisomy 9, which is not detectable by the FISH test. For the 20 samples with abnormal FISH results, the OncoScan assay identified all reported abnormalities along with additional findings. A sample with trisomy 22 was also found to have trisomy 7. Another sample reported as triploidy was found to have four copies of chromosome 16. In conclusion, we verified the performance characteristics of OncoScan on FFPE POC specimens and found it acceptable for clinical use. Additional information was identified in 3 of 25 cases (12%) that would explain the pregnancy loss or provide recurrence risk for the family.

摘要

检测妊娠产物(POC)可提供有关胎儿丢失原因的信息,并有助于确定未来流产的复发风险和随后妊娠中的染色体异常。历史上,Mayo 诊所细胞遗传学实验室采用靶向荧光原位杂交(FISH)检测,仅针对福尔马林固定、石蜡包埋(FFPE)POC 样本中某些染色体的非整倍性进行检测。使用 Affymetrix OncoScan FFPE 分析进行染色体微阵列研究可以检测整个基因组的拷贝数变化。我们使用 25 个具有先前 FISH 结果的存档 FFPE POC 标本验证了 OncoScan 分析的效用(5 个正常,12 个三体,6 个三倍体,2 个单体)。在五个正常样本中,四个没有临床相关发现,一个样本被发现存在 9 号三体,这是 FISH 检测无法检测到的。对于 20 个具有异常 FISH 结果的样本,OncoScan 分析鉴定了所有报告的异常情况以及其他发现。还发现一个 22 号三体样本存在 7 号三体。另一个报告为三倍体的样本被发现存在 16 号染色体的四个拷贝。总之,我们验证了 OncoScan 在 FFPE POC 标本上的性能特征,并发现其可接受用于临床应用。在 25 例中的 3 例(12%)中发现了额外信息,这些信息可解释妊娠丢失或为家庭提供复发风险。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索