E-MTAB-2156 - Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong
Last updated on 23 December 2013, released on 1 January 2014
The project aim is to evaluate the role of whole-genome aCGH for prenatal diagnosis in Hong Kong. Array CGH was performed on 220 samples recruited prospectively as the first-tier test study; and on 150 samples with abnormal ultrasound findings and normal karyotypes as a further-test study using NimbleGen CGX-135K oligonucleotide arrays. After the exclusion of common aneuploidies in the first-tier study, clinically significant CNVs are detected in 23/220 samples. In the further test study, clinically significant CNVs are detected in 9/150 samples, which showed CGX array has an increased diagnostic yield of about 6% compared with conventional cytogenetic methods. CNVs of unclear clinical significance are detected in only 10/370 (2.7%) samples. Only data from sample with positive findings are included in this experiment submission (the samples with normal results are not included here).
comparative genomic hybridization by array, comparative genome hybridization, genotype design, reference design
Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong. Anita S.Y. Kan, Elizabeth T. Lau, W.F. Tang, Sario S.Y. Chan, Simon C.K. Ding, Kelvin Y.K. Chan, C.P. Lee, Pui Wah Hui, Brian H.Y. Chung, K.Y. Leung, Teresa Ma, Wing C. Leung, Mary H.Y. Tang.