Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.
Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.
复制标题
DOI：
10.1371/journal.pone.0109173
复制
发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Saldivar JS
中科院分区：
文献类型：
--
作者：
McCullough RM;Almasri EA;Guan X;Geis JA;Hicks SC;Mazloom AR;Deciu C;Oeth P;Bombard AT;Paxton B;Dharajiya N;Saldivar JS
作为第一个为胎儿非整倍体提供大规模平行测序的无创产前检测（NIPT）的实验室，Sequenom实验室已经能够收集迄今为止最大的临床人群经验数据，包括来自美国所有50个州和其他13个国家的100万份临床样本。本研究的目的是为MaterniT21 PLUS LDT目前的实验室性能提供一个可靠的临床图像。该研究包括2012年8月至2013年6月在我们的clia许可和cap认可的实验室收集的高危妊娠患者的血浆样本。对样本进行13、18、21三体和y染色体特异性DNA的检测。对临床医生提供的样本数据和特别结果信息进行汇编和审查，以确定该患者群体的特征，并评估临床环境中的检测性能。NIPT患者最常在平均妊娠15周3天进行检测；平均年龄为35.1岁。平均周转时间为4.54个工作日，总体不报告率为1.3%。21三体阳性率为1.51%，18和13三体阳性率分别为0.45%和0.21%。NIPT阳性率与以往大型临床研究中35岁以上孕妇进行羊膜穿刺术的非整倍体相似。该人群中3519例多胎妊娠（3.5%），其中2.61% NIPT结果阳性。NIPT已经在商业上提供了2年多，患者和临床医生的临床使用显著增加。通过在高危患者中提供另一种非整倍体状态评估，与侵入性检测相关的风险已大大降低。NIPT检测的准确性和阳性率与临床验证所预测的一致，并且该测试显示了当前护理标准的改进。
As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA–licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5%) with 2.61% yielding a positive NIPT result. NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the current standard of care.
登录
查看更多内容
影响因子：
9.3
作者：
Nygren, Anders O. H.;Dean, Jarrod;Ehrich, Mathias
通讯作者：
Ehrich, Mathias
影响因子：
9.8
作者：
Norton, Mary E.;Brar, Herb;Song, Ken
通讯作者：
Song, Ken
影响因子：
7.2
作者：
Bianchi, Diana W.;Platt, Lawrence D.;Rava, Richard P.
通讯作者：
Rava, Richard P.
影响因子：
9.3
作者：
Lam, Kwan-Wood G.;Jiang, Peiyong;Lo, Y. M. Dennis
通讯作者：
Lo, Y. M. Dennis
影响因子：
3
作者：
Benn, Peter;Borrell, Antoni;Yaron, Yuval
通讯作者：
Yaron, Yuval