Detection of genomic imbalances by comparative genomic hybridization in Chinese fetuses with malformations.
OBJECTIVE
The purpose of the study was to evaluate the feasibility and reliability of comparative genomic hybridization (CGH) in the detection of genomic imbalances in Chinese malformed fetuses.


METHODS
Genomic DNA was extracted from umbilical cord blood or fresh amniotic fluid of 9 malformed fetuses and labeled with SpectrumGreen dUTP or SpectrumRed dUTP. A pair of CGH analyses in which the fluorochromes were exchanged was carried out for each sample.


RESULTS
Samples from 9 malformed fetuses were analyzed successfully by CGH. Numerical chromosome aberrations were detected in samples from cases 4, 8 and 9, and were verified by fluorochrome-exchanged CGH. Trisomy 21q was detected in case 4, del 2p24-pter and dup 12p13 was detected in case 8, and del 1p33-pter and del 22q11-12 were detected in case 9.


CONCLUSIONS
CGH is a reliable technique for the detection of genomic imbalances. Fluorochrome-exchanged CGH can reduce inconsistencies in the results caused by deviations in the process of DNA labeling and hybridization, and increase the accuracy and reliability in cases when conventional cytogenetic analysis is unavailable.
Wang
Yu
Y
Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, 324 Jing-Wu Road, Jinan 250021, China.
Meng
Jin-Lai
JL
Wang
Xie-Tong
XT
Zhao
Yue-Ran
YR
Wang
Lai-Cheng
LC
Simpson
Joe Leigh
JL
Chen
Zi-Jiang
ZJ
D000782:Aneuploidy; D044466:Asian People / Q000235:genetics*; D002681:China; D000013:Congenital Abnormalities / Q000208:ethnology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005456:Fluorescent Dyes; D042822:Genomic Instability / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D015203:Reproducibility of Results
D005456:Fluorescent Dyes; D004247:DNA