Whole-genome array as a first-line cytogenetic test in prenatal diagnosis

被引:25
作者
Srebniak, M. I. [1 ]
Van Opstal, D. [1 ]
Joosten, M. [1 ]
Diderich, K. E. M. [1 ]
De Vries, F. A. T. [1 ]
Riedijk, S. [1 ]
Knapen, M. F. C. M. [2 ,3 ]
Go, A. T. J. I. [2 ]
Govaerts, L. C. P. [1 ]
Galjaard, R-J H. [1 ]
机构
[1] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[2] Erasmus MC, Dept Obstet & Gynecol, Rotterdam, Netherlands
[3] Stichting Prenatale Screening Zuidwest Nederland, Rotterdam, Netherlands
关键词
CHROMOSOMAL MICROARRAY ANALYSIS; RAPID ANEUPLOIDY DETECTION; COPY NUMBER VARIANTS; SNP ARRAY; ULTRASOUND ABNORMALITIES; INCIDENTAL FINDINGS; CLINICAL UTILITY; DE-NOVO; SPONTANEOUS-ABORTIONS; HYBRIDIZATION ACGH;
D O I
10.1002/uog.14745
中图分类号
O42 [声学];
学科分类号
070206 ; 082403 ;
摘要
引用
收藏
页码:363 / 372
页数:10
相关论文
共 128 条
[1]   A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings [J].
Ahn, Joo Wook ;
Bint, Susan ;
Irving, Melita D. ;
Kyle, Phillipa M. ;
Akolekar, Ranjit ;
Mohammed, Shehla N. ;
Ogilvie, Caroline Mackie .
PEERJ, 2014, 2
[2]  
American College of Obstetricians and Gynecologists Committee on Genetics, 2013, OBSTET GYNECOL, V122, P1374, DOI DOI 10.1097/00006250-201312000-00042
[3]  
Association for Clinical Cytogenetics, 2009, PROF GUID CLIN CYT P
[4]   Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation [J].
Battaglia, Agatino ;
Hoyme, H. Eugene ;
Dallapiccola, Bruno ;
Zackai, Elaine ;
Hudgins, Louanne ;
McDonald-McGinn, Donna ;
Bahi-Buisson, Nadia ;
Romano, Corrado ;
Williams, Charles A. ;
Braley, Lisa L. ;
Zuberi, Sameer M. ;
Carey, John C. .
PEDIATRICS, 2008, 121 (02) :404-410
[5]   Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro [J].
Benkhalifa, M ;
Kasakyan, S ;
Clement, P ;
Baldi, M ;
Tachdjian, G ;
Demirol, A ;
Gurgan, T ;
Fiorentino, F ;
Mohammed, M ;
Qumsiyeh, MB .
PRENATAL DIAGNOSIS, 2005, 25 (10) :894-900
[6]   Prenatal counseling and the detection of copy-number variants [J].
Benn, Peter A. .
GENETICS IN MEDICINE, 2013, 15 (04) :316-317
[7]   Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time [J].
Berg, Jonathan S. ;
Khoury, Muin J. ;
Evans, James P. .
GENETICS IN MEDICINE, 2011, 13 (06) :499-504
[8]  
Bernhardt B, 2011, ACMG ANN CLIN GEN M
[9]   Women's experiences receiving abnormal prenatal chromosomal microarray testing results [J].
Bernhardt, Barbara A. ;
Soucier, Danielle ;
Hanson, Karen ;
Savage, Melissa S. ;
Jackson, Laird ;
Wapner, Ronald J. .
GENETICS IN MEDICINE, 2013, 15 (02) :139-145
[10]   Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road? [J].
Bianchi, Diana W. ;
Wilkins-Haug, Louise .
CLINICAL CHEMISTRY, 2014, 60 (01) :78-87