PMID- 16155075
OWN - NLM
STAT- MEDLINE
DCOM- 20060227
LR  - 20091119
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 21
IP  - 1
DP  - 2006 Jan
TI  - Preimplantation genetic screening reveals a high incidence of aneuploidy and 
      mosaicism in embryos from young women undergoing IVF.
PG  - 223-33
AB  - BACKGROUND: In order to assess the frequency of aneuploidy and mosaicism in 
      embryos obtained from IVF patients aged <38 years, preimplantation genetic 
      screening (PGS) was performed after biopsy of two blastomeres. Furthermore, the 
      reliability of this diagnosis was assessed by performing reanalysis of the embryo 
      on day 5. METHOD: The copy numbers of 10 chromosomes (1, 7, 13, 15, 16, 18, 21, 
      22, X and Y) were investigated by fluorescence in situ hybridization (FISH) 
      analysis. Embryos that were found to be abnormal or of insufficient morphological 
      quality were cultured until day 5 and reanalysed. Results obtained were compared 
      to the day 3 blastomere analysis. RESULTS: After analysis of 196 embryos (one 
      cell in 38% and two cells in 62%), only 36% of the embryos were found to be 
      normal on day 3. After analysis of two blastomeres, 50% showed chromosomal 
      mosaicism. Comparison of the FISH results from day 3 blastomeres and day 5 
      embryos yielded an overall cytogenetic confirmation rate of 54%. CONCLUSIONS: The 
      rates of mosaicism and aneuploidy in these embryos from young IVF patients are 
      similar to those published for older women. We found the best confirmation rate 
      after a diagnosis based on two cells, where both blastomeres showed the same 
      chromosomal abnormality. In contrast, after a mosaic diagnosis the confirmation 
      rate was low. The present study provides the first detailed reanalysis data of 
      embryos analysed by PGS and clearly demonstrates the impact of mosaicism on the 
      reliability of the PGS diagnosis.
FAU - Baart, E B
AU  - Baart EB
AD  - Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, 
      Erasmus MC, University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, 
      The Netherlands. e.baart@erasmusmc.nl
FAU - Martini, E
AU  - Martini E
FAU - van den Berg, I
AU  - van den Berg I
FAU - Macklon, N S
AU  - Macklon NS
FAU - Galjaard, R-J H
AU  - Galjaard RJ
FAU - Fauser, B C J M
AU  - Fauser BC
FAU - Van Opstal, D
AU  - Van Opstal D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050909
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chromosome Disorders/*diagnosis
MH  - Cytogenetic Analysis
MH  - Embryo, Mammalian/*abnormalities
MH  - Female
MH  - *Fertilization in Vitro
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism/*embryology
MH  - *Preimplantation Diagnosis
EDAT- 2005/09/13 09:00
MHDA- 2006/02/28 09:00
CRDT- 2005/09/13 09:00
PHST- 2005/09/13 09:00 [pubmed]
PHST- 2006/02/28 09:00 [medline]
PHST- 2005/09/13 09:00 [entrez]
AID - dei291 [pii]
AID - 10.1093/humrep/dei291 [doi]
PST - ppublish
SO  - Hum Reprod. 2006 Jan;21(1):223-33. doi: 10.1093/humrep/dei291. Epub 2005 Sep 9.