SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.
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DOI：
10.1002/pd.4159
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发表时间：
2013-07
影响因子：
3
通讯作者：
Rabinowitz, Matthew
中科院分区：
文献类型：
--
作者：
Samango-Sprouse, Carole;Banjevic, Milena;Ryan, Allison;Sigurjonsson, Styrmir;Zimmermann, Bernhard;Hill, Matthew;Hall, Megan P.;Westemeyer, Margaret;Saucier, Jennifer;Demko, Zachary;Rabinowitz, Matthew
开发一种基于单核苷酸多态性和信息学的非侵入性产前检测方法，用于在怀孕早期检测性染色体非整倍体。分析了15个非整倍体样本，包括13个45，X，2个47，XXY和1个47，XYY，以及185个整倍体对照。从母体血浆中提取无细胞DNA，用一种针对13、18、21、X和Y染色体的19,488个多态基因座的单一多重聚合酶链式反应进行扩增，并进行测序。测序结果使用基于贝叶斯的最大似然统计方法进行分析，以确定询问的染色体的拷贝数，计算样本特定的准确性。在通过严格质量控制标准的样本中(93%)，该算法正确地识别了所有187个样本中所有五条染色体的拷贝数，最早在怀孕9.4周时就对934/935进行了正确的判断。检测45，X基因的敏感性为91.7%(CI：61.5-99.8%)，特异性为100%(CI：97.9-100%)，检测出47，XXY和47，XYY。平均计算准确率为99.78%。该方法从母体血浆中分离的cfDNA中无创检测45，X，47，XXY和47，XYY胎儿，计算准确率高，因此提供了一种非侵入性方法，具有作为常规筛查的潜力，允许对罕见但常见的性别非整倍体进行早期产前检测。
To develop a single nucleotide polymorphism- and informatics-based non-invasive prenatal test that detects sex chromosome aneuploidies early in pregnancy. Fifteen aneuploid samples, including thirteen 45,X, two 47,XXY, and one 47,XYY, along with 185 euploid controls, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex PCR assay that targeted 19,488 polymorphic loci covering chromosomes 13, 18, 21, X, and Y, and sequenced. Sequencing results were analyzed using a Bayesian-based maximum likelihood statistical method to determine copy number of interrogated chromosomes, calculating sample-specific accuracies. Of the samples that passed a stringent quality control metric (93%), the algorithm correctly identified copy number at all five chromosomes in all 187 samples, for 934/935 correct calls as early as 9.4 weeks of gestation. We detected 45,X with 91.7% sensitivity (CI: 61.5-99.8%) and 100% specificity (CI: 97.9-100%), and 47,XXY and 47,XYY. The average calculated accuracy was 99.78%. This method non-invasively detected 45,X, 47,XXY, and 47,XYY fetuses from cfDNA isolated from maternal plasma with high calculated accuracies, and thus offers a non-invasive method with the potential to function as a routine screen allowing for early prenatal detection of rarely diagnosed yet commonly occurring sex aneuploidies.
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影响因子：
30.8
作者：
Alkan, Can;Kidd, Jeffrey M.;Marques-Bonet, Tomas;Aksay, Gozde;Antonacci, Francesca;Hormozdiari, Fereydoun;Kitzman, Jacob O.;Baker, Carl;Malig, Maika;Mutlu, Onur;Sahinalp, S. Cenk;Gibbs, Richard A.;Eichler, Evan E.
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Eichler, Evan E.
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9.3
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通讯作者：
Lo, Y. M. Dennis
影响因子：
120.7
作者：
Ferlin, Alberto;Zuccarello, Daniela;Foresta, Carlo
通讯作者：
Foresta, Carlo
影响因子：
2.7
作者：
Jiang, Fuman;Ren, Jinghui;Zhang, Xiuqing
通讯作者：
Zhang, Xiuqing
影响因子：
7.2
作者：
Bianchi, Diana W.;Platt, Lawrence D.;Rava, Richard P.
通讯作者：
Rava, Richard P.