Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

ABSTRACT:

Objective

To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong.

Methods

Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a 'further-test' study using NimbleGen CGX-135K oligonucleotide arrays.

Results

Array CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220) clinically significant copy number variants (CNV), of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2%

SUBMITTER: Kan AS 

PROVIDER: S-EPMC3914896 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature