Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
复制标题
DOI：
10.1007/s00439-011-1095-5
复制
发表时间：
2012-03
期刊：
影响因子：
5.3
通讯作者：
Pérez-Jurado LA
中科院分区：
文献类型：
--
作者：
Armengol L;Nevado J;Serra-Juhé C;Plaja A;Mediano C;García-Santiago FA;García-Aragonés M;Villa O;Mansilla E;Preciado C;Fernández L;Ángeles Mori M;García-Pérez L;Lapunzina PD;Pérez-Jurado LA
近年来，染色体异常检测的新方法已经出现，但其在产前环境中的临床效用仍然未知。我们进行了一项比较研究，目前可用的方法检测染色体异常后，侵入性产前采样。采用三种筛查方法同时评价了一个1年系列胎儿样本的多中心收集，这些样本具有产前侵入性采样的指征：（1）核型和定量荧光聚合酶链反应（QF-PCR），（2）两组多重连接依赖性探针扩增（MLPA），和（3）使用靶向BAC微阵列的基于染色体微阵列的分析（CMA）。共有900名孕妇提供了参与的知情同意书（接受率为94%）。核型、QF-PCR和CMA的技术性能非常好（失败率约为1%），但MLPA的技术性能相对较差（失败率为10%）。CMA或MLPA的平均周转时间（达特）为7天，核型为25天，QF-PCR为2天，不同方法的综合成本相似。共发现57例临床显著染色体畸变（6.3%），CMA的检出率最高（32%，高于其他方法）。通过CMA（17，1.9%）鉴定的不确定临床意义的变异是核型和MLPA的三倍，但大多数改变在证明它们都是遗传后可以归类为可能的良性。高可接受性，显着更高的检出率和较低达特，可以证明CMA的成本较高，并有利于有针对性的CMA作为最好的方法检测染色体异常的高危妊娠后，侵入性产前采样。本文的在线版本（doi：10.1007/s 00439 -011-1095-5）包含补充材料，可供授权用户使用。
Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently available methodologies for detection of chromosomal abnormalities after invasive prenatal sampling. A multicentric collection of a 1-year series of fetal samples with indication for prenatal invasive sampling was simultaneously evaluated using three screening methodologies: (1) karyotype and quantitative fluorescent polymerase chain reaction (QF-PCR), (2) two panels of multiplex ligation-dependent probe amplification (MLPA), and (3) chromosomal microarray-based analysis (CMA) with a targeted BAC microarray. A total of 900 pregnant women provided informed consent to participate (94% acceptance rate). Technical performance was excellent for karyotype, QF-PCR, and CMA (~1% failure rate), but relatively poor for MLPA (10% failure). Mean turn-around time (TAT) was 7 days for CMA or MLPA, 25 for karyotype, and two for QF-PCR, with similar combined costs for the different approaches. A total of 57 clinically significant chromosomal aberrations were found (6.3%), with CMA yielding the highest detection rate (32% above other methods). The identification of variants of uncertain clinical significance by CMA (17, 1.9%) tripled that of karyotype and MLPA, but most alterations could be classified as likely benign after proving they all were inherited. High acceptability, significantly higher detection rate and lower TAT, could justify the higher cost of CMA and favor targeted CMA as the best method for detection of chromosomal abnormalities in at-risk pregnancies after invasive prenatal sampling. The online version of this article (doi:10.1007/s00439-011-1095-5) contains supplementary material, which is available to authorized users.
登录
查看更多内容
影响因子：
3
作者：
Maya, Idit;Davidov, Bella;Shohat, Mordechai
通讯作者：
Shohat, Mordechai
DOI：
10.1111/j.1471-0528.1987.tb03115.x
发表时间：
1987-05-01
期刊：
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
影响因子：
--
作者：
CUCKLE, HS;WALD, NJ;THOMPSON, SG
通讯作者：
THOMPSON, SG
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
影响因子：
3
作者：
Coppinger, Justine;Alliman, Sarah;Shaffer, Lisa G.
通讯作者：
Shaffer, Lisa G.
影响因子：
3
作者：
Van den Veyver, Ignatia B.;Patel, Ankita;Shaw, Chad A.;Pursley, Amber N.;Kang, Sung-Hae L.;Simovich, Marcia J.;Ward, Patricia A.;Darilek, Sandra;Johnson, Anthony;Neill, Sarah E.;Bi, Weimin;White, Lisa D.;Eng, Christine M.;Lupski, James R.;Cheung, Sau Wai;Beaudet, Arthur L.
通讯作者：
Beaudet, Arthur L.