Evaluation of Array Comparative Genomic Hybridization for Genetic Analysis of Chorionic Villus Sampling from Pregnancy Loss in Comparison to Karyotyping and Multiplex Ligation-Dependent Probe Amplification

被引：24
作者：
Deshpande, Maitreyee [2 ]
Harper, Joyce [2 ]
Holloway, Melissa [1 ]
Palmer, Rodger [1 ]
Wang, Rubin [1 ]
机构：
[1] Great Ormond St Hosp Sick Children, NE Thames Reg Genet Serv, London WC1N 3BH, England
[2] UCL, Inst Womens Hlth, UCL Ctr PG&D, London, England
来源：
GENETIC TESTING AND MOLECULAR BIOMARKERS | 2010年 / 14卷 / 03期
关键词：
SPONTANEOUS-ABORTIONS; MISCARRIAGE; DIAGNOSIS; MLPA;
D O I：
10.1089/gtmb.2010.0014
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Objective: The aim of this study was to evaluate the use of array comparative genomic hybridization (aCGH) for genetic analysis of chorionic villus sampling (CVS) from pregnancy loss. aCGH results were compared with results from karyotyping and multiplex ligation-dependent probe amplification (MLPA) analysis to assess the suitability of aCGH as a method for detecting a variety of known chromosomal abnormalities. It was determined which technique gave the most valuable information. Method: Twenty anonymised samples from CVS were analyzed by aCGH, MLPA, and karyotyping. Results: Ten cases were identified as normal by all three methods. Aneuploidy was detected in four cases by all three methods. Partial deletion and duplication was detected in two cases by aCGH and karyotyping but missed by MLPA. In addition, mosaicism was detected by aCGH in 3 of 20 cases missed by MLPA and karyotyping. Conclusion: aCGH is a rapid, automated, reliable, high-resolution technique to diagnose unbalanced chromosomal abnormalities. In this study, aCGH analysis accurately identified all chromosomal abnormalities in CVS from pregnancy loss, suggesting that it is suitable in the clinical setting for prenatal diagnosis.
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页码：421 / 424
页数：4
相关论文
共 11 条
[1]  
ABRUZZO M, 1995, ENV MOL MUTAGEN S, V26, P38
[2]   Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization [J].
Ballif, BC ;
Kashork, CD ;
Saleki, R ;
Rorem, E ;
Sundin, K ;
Bejjani, BA ;
Shaffer, LG .
PRENATAL DIAGNOSIS, 2006, 26 (04) :333-339
[3]   Cytogenetic diagnosis of "normal 46,XX" karyotypes in spontaneous abortions frequently may be misleading [J].
Bell, KA ;
Van Deerlin, PG ;
Haddad, BR ;
Feinberg, RF .
FERTILITY AND STERILITY, 1999, 71 (02) :334-341
[4]   High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy [J].
Bruno, Damien L. ;
Burgess, Trent ;
Ren, Hua ;
Nouri, Sara ;
Pertile, Mark D. ;
Francis, David I. ;
Norris, Fiona ;
Kenney, Bronwyn K. ;
Schouten, Jan ;
Choo, K. H. Andy ;
Slater, Howard R. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) :2786-2793
[5]   MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages [J].
Diego-Alvarez, Dan ;
de Alba, Marta Rodriguez ;
Cardero-Merlo, Rocio ;
Diaz-Recasens, Joaquin ;
Ayuso, Carmen ;
Ramos, Carmen ;
Lorda-Sanchez, Isabel .
PRENATAL DIAGNOSIS, 2007, 27 (08) :765-771
[6]   Comparative genomic hybridization analysis of spontaneous abortion [J].
Hu, YL ;
Chen, X ;
Chen, LL ;
Xu, ZF ;
Wang, XR ;
Cui, HM .
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, 2006, 92 (01) :52-57
[7]  
Jacobson LH., 2007, BEHAV GENET, V37, P171
[8]   Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions [J].
Lomax, B ;
Tang, S ;
Separovic, E ;
Phillips, D ;
Hillard, E ;
Thomson, T ;
Kalousek, DK .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (05) :1516-1521
[9]   Investigation of the cause of miscarriage and its influence on women's psychological distress [J].
Nikcevic, AV ;
Tunkel, SA ;
Kuczmierczyk, AR ;
Nicolaides, KH .
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 1999, 106 (08) :808-813
[10]   Global variation in copy number in the human genome [J].
Redon, Richard ;
Ishikawa, Shumpei ;
Fitch, Karen R. ;
Feuk, Lars ;
Perry, George H. ;
Andrews, T. Daniel ;
Fiegler, Heike ;
Shapero, Michael H. ;
Carson, Andrew R. ;
Chen, Wenwei ;
Cho, Eun Kyung ;
Dallaire, Stephanie ;
Freeman, Jennifer L. ;
Gonzalez, Juan R. ;
Gratacos, Monica ;
Huang, Jing ;
Kalaitzopoulos, Dimitrios ;
Komura, Daisuke ;
MacDonald, Jeffrey R. ;
Marshall, Christian R. ;
Mei, Rui ;
Montgomery, Lyndal ;
Nishimura, Kunihiro ;
Okamura, Kohji ;
Shen, Fan ;
Somerville, Martin J. ;
Tchinda, Joelle ;
Valsesia, Armand ;
Woodwark, Cara ;
Yang, Fengtang ;
Zhang, Junjun ;
Zerjal, Tatiana ;
Zhang, Jane ;
Armengol, Lluis ;
Conrad, Donald F. ;
Estivill, Xavier ;
Tyler-Smith, Chris ;
Carter, Nigel P. ;
Aburatani, Hiroyuki ;
Lee, Charles ;
Jones, Keith W. ;
Scherer, Stephen W. ;
Hurles, Matthew E. .
NATURE, 2006, 444 (7118) :444-454
12