共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
3.
4.
Anna Doffini Claudio Forcato Chiara Mangano Debora Lattuada Roberta Aversa Chiara Maranta Emilia D. Giovannone Genny Buson Chiara Bolognesi Rebecca Maiocchi Martina Dori Liyana Jamal Raidah B. Ahmad George S. H. Yeo Tai Wai Yeo Silvia Saragozza Rosamaria Silipigni Marta Serafini Andrea Biondi Sofia Perego Patrizia Vergani Enrico Ferrazzi Paola Ricciardi-Castagnoli Thomas J. Musci Francesca Romana Grati 《黑龙江环境通报》2023,43(1):14-27
Objective
To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection.Methods
Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow.Results
An LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identification of a pathogenic CNV of 800 Kb, also detected by chromosomal microarray. The mean number of recovered cEVTs was 3.5 cells per sample with a significant reverse linear trend between gestational age and cEVT recovery rate and number of recovered cEVTs. In twin pregnanices, evaluation of zygosity, fetal sex and copy number profiling was performed in each individual cell.Conclusion
Our semi-automated methodology for the isolation and single-cell analysis of cEVTS supports the feasibility of a cell-based noninvasive prenatal test for fetal genomic profiling. 相似文献5.
6.
7.
8.
Amy M. Breman Jennifer C. Chow Lance U'Ren Elizabeth A. Normand Sadeem Qdaisat Li Zhao David M. Henke Rui Chen Chad A. Shaw Laird Jackson Yaping Yang Liesbeth Vossaert Rachel H. V. Needham Elizabeth J. Chang Daniel Campton Jeffrey L. Werbin Ron C. Seubert Ignatia B. Van den Veyver Jackie L. Stilwell Eric P. Kaldjian Arthur L. Beaudet 《黑龙江环境通报》2016,36(11):1009-1019
9.
10.
11.
12.
13.
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values. Because a positive NIPS result should be confirmed using diagnostic techniques, and false positive rates are as high as 90% for some microdeletions, diagnostic testing seems preferable when the goal is to maximize the detection of microdeletion or microduplication syndromes. 相似文献
14.
15.
Xuan Huang Jing Zheng Min Chen Yangyu Zhao Chunlei Zhang Lifu Liu Weiwei Xie Shuqiong Shi Yuan Wei Dongzhu Lei Chenming Xu Qichang Wu Xiaoling Guo Xiaomei Shi Yi Zhou Qiufang Liu Ya Gao Fuman Jiang Hongyun Zhang Fengxia Su Huijuan Ge Xuchao Li Xiaoyu Pan Shengpei Chen Fang Chen Qun Fang Hui Jiang Tze Kin Lau Wei Wang 《黑龙江环境通报》2014,34(4):335-340
16.
17.
18.
19.