PMID- 21609577
OWN - NLM
STAT- MEDLINE
DCOM- 20120517
LR  - 20110525
IS  - 0529-567X (Print)
IS  - 0529-567X (Linking)
VI  - 46
IP  - 4
DP  - 2011 Apr
TI  - [Clinical analysis of 100 preimplantation genetic diagnosis cycles].
PG  - 255-9
AB  - OBJECTIVE: To investigate influence of chromosomal translocations on early embryo 
      development and to evaluate the efficacy and feasibility of preimplantation 
      genetic diagnosis (PGD) techniques through clinical analysis on PGD cycles. 
      METHODS: Embryo development, efficacy of PGD and clinical outcome of 100 cycles 
      were studied retrospectively, including 23 cycles with Robertsonian 
      translocations, 19 cycles with reciprocal translocations, and 58 cycles for 
      alpha-Thalassaemia. RESULTS: Among 354 embryos biopsied by PGD for translocations, 
      321 (90.7%) presented fluorescence in situ hybridization (FISH) results. The rate 
      of normal/balanced embryos in the Robertsonian translocation was 38.3% (64/167), 
      which was significantly higher than 20.8% (32/154) in the reciprocal 
      translocation group. Amplification was achieved in 443 blastomeres from 537 
      embryos in Thalassaemia group, which given to an amplification efficiency rate of 
      82.5% (443/537). Totally, 140 normal homozygous, 112 heterozygotes and 155 
      affected homozygous embryos were identified, while 36 embryos had uncertain 
      result. The successful diagnostic rate was 75.8% (407/537). After 3 days in the 
      translocation groups, the rate of normal and/or balanced translocations in 
      biopsed embryos with >/=7 cells was 34.4% (77/224), which was significantly higher 
      than 19.6% (19/97) of biopsed embryos with <7 cells. After 4 days, the compaction 
      rate in normal/balanced embryos was 59.4% (57/96), which was significantly higher 
      than 34.2% (77/225) in imbalanced embryos significantly. Seventy-five embryos 
      transferred in 37 cycles with translocations group led to clinical pregnancy rate 
      of 27.0% (10/37), and 170 embryos transferred in 58 cycles with Thalassaemia got 
      a clinical pregnancy rate of 43.1% (25/58). CONCLUSIONS: PGD can provide 
      management efficiently for both chromosome translocations and Thalassaemia. 
      Translocations might have slightly negative impact on embryo development before 
      implantation.
FAU - Xu, Yan-wen
AU  - Xu YW
AD  - Reproductive Medical Center, First Affiliated Hospital, Sun Yat-sen University, 
      Guangzhou 510080, China.
FAU - Zhou, Can-quan
AU  - Zhou CQ
FAU - Zeng, Yan-hong
AU  - Zeng YH
FAU - Liu, Ying
AU  - Liu Y
FAU - Gao, Ling
AU  - Gao L
FAU - Zhuang, Guang-lun
AU  - Zhuang GL
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Fu Chan Ke Za Zhi
JT  - Zhonghua fu chan ke za zhi
JID - 16210370R
SB  - IM
MH  - Chromosome Disorders/diagnosis/genetics
MH  - Embryo Implantation
MH  - *Embryonic Development
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Pregnancy Rate
MH  - Preimplantation Diagnosis/*methods
MH  - Retrospective Studies
MH  - *Translocation, Genetic
MH  - alpha-Thalassemia/*diagnosis/genetics
EDAT- 2011/05/26 06:00
MHDA- 2012/05/18 06:00
CRDT- 2011/05/26 06:00
PHST- 2011/05/26 06:00 [entrez]
PHST- 2011/05/26 06:00 [pubmed]
PHST- 2012/05/18 06:00 [medline]
PST - ppublish
SO  - Zhonghua Fu Chan Ke Za Zhi. 2011 Apr;46(4):255-9.