Feb 8, 2014

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

PloS One
Anita S Y KanMary Hoi-Yin Tang


To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. 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. 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% (7/220) samples with CNVs detected by aCGH but not by conventional cytogenetics. In the 'further-test' study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150). The overall detection for CNVs of unclear clinical significance was 2.7% (10/370) with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population. Whole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either ...Continue Reading

  • References24
  • Citations13


  • References24
  • Citations13


Mentioned in this Paper

Pathologic Cytolysis
Genome-Wide Association Study
Trisomy 7
Fluorescent in Situ Hybridization
Chromosome Markers
Entire Fetus
Double Outlet Right Ventricle
NFIA wt Allele
Single Artery and Vein of Umbilical Cord

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