PMID- 23744315
OWN - NLM
STAT- MEDLINE
DCOM- 20131114
LR  - 20130607
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 30
IP  - 3
DP  - 2013 Jun
TI  - [A preliminary study on the application of array comparative genomic 
      hybridization for preimplantaion genetic diagnosis].
PG  - 283-7
LID - 10.3760/cma.j.issn.1003-9406.2013.03.007 [doi]
AB  - OBJECTIVE: To assess the value of array comparative genomic hybridization (array 
      CGH) technique for preimplantation genetic diagnosis (PGD). METHODS: Array CGH 
      was performed on three types of cells, which included 3-5 cells isolated from 
      B2/C38/A1 embryonic stem cell lines, single cells isolated from two discarded 
      normal fertilized embryos, and 10 blastocysts biopsied from 5 couples undergoing 
      PGD for chromosomal translocations. For the 10 blastocysts, 8 were abnormal 
      embryos, 1 appeared to be normal but showed arrested development, and 1 embryo 
      was without any fluorescence signals. 24sure V3 or 24sure+ array chips were 
      applied for CGH analysis. The results were analyzed with a BlueFuse Multi 
      software. RESULTS: (1) The results of cells from B2/C3/A1 embryo stem cells by 
      array CGH were consistent with karyotyping analysis. (2) For the 6 single cell 
      samples from two discarded embryos, 2 blastomeres from one embryo were diagnosed 
      as with aneuploidy and a normal karyotype, respectively. Two out of 4 blastomeres 
      biopsied from another embryo were normal, whilst the remaining two were diagnosed 
      with aneuploidies of -22 and +13. Repeated detection with 24sure+ array was 
      consistent with the 24sure V3 result. (3) Ten cell masses from 10 embryos in PGD 
      cycles were successfully analyzed with array CGH, among which four were confirmed 
      with fluorescence in situ hybridization (FISH) on day 3. In two of them, array 
      CGH confirmed FISH diagnosis. For the remaining two, additional aneuploidies for 
      chromosomes not tested by FISH were discovered by array CGH. Another embryo 
      diagnosed as no signal by FISH was found to have trisomy 13 by array CGH. The 
      remaining 5 embryos also showed discordant results by FISH and array CGH. One 
      embryo from a Robertsonian translocation carrier was found to have monosomy 13 by 
      FISH but trisomy 14 and additional aneuploidies by both 24sure V3 and 24sure+ 
      chips. One embryo with many fragments and arrested development by D5 showed 
      discordant results by FISH and array CGH. However, the FISH and array CGH results 
      for other two embryos from this reciprocal translocation carrier were consistent. 
      Three embryos with inconsistent results by FISH and array CGH had a chromosomal 
      translocation involving q11 region. CONCLUSION: Array CGH is useful for PGD 
      applications for its capability to detect structural chromosomal abnormalities 
      through screening of aneuploidies. However, the 24sure V3 array may not suit 
      detection of translocations with breakpoints close to the q11 region of 
      chromosomes.
FAU - Xie, Yanxin
AU  - Xie Y
AD  - Center for Reproductive Medicine, First Affiliated Hospital of Sun Yat-sen 
      University, Guangzhou, Guangdong 510080, P.R. China.
FAU - Xu, Yanwen
AU  - Xu Y
FAU - Miao, Benyu
AU  - Miao B
FAU - Zeng, Yanhong
AU  - Zeng Y
FAU - Zhou, Canquan
AU  - Zhou C
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Cell Line
MH  - *Comparative Genomic Hybridization
MH  - Embryonic Stem Cells/metabolism
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Pregnancy
MH  - *Preimplantation Diagnosis
MH  - Reproducibility of Results
MH  - Translocation, Genetic
EDAT- 2013/06/08 06:00
MHDA- 2013/11/15 06:00
CRDT- 2013/06/08 06:00
PHST- 2013/06/08 06:00 [entrez]
PHST- 2013/06/08 06:00 [pubmed]
PHST- 2013/11/15 06:00 [medline]
AID - 940630063 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2013.03.007 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):283-7. doi: 
      10.3760/cma.j.issn.1003-9406.2013.03.007.