Document Detail

Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF.
MedLine Citation:
PMID:  16155075     Owner:  NLM     Status:  MEDLINE    
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.
E B Baart; E Martini; I van den Berg; N S Macklon; R-J H Galjaard; B C J M Fauser; D Van Opstal
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-09-09
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  21     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2005-12-05     Completed Date:  2006-02-27     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  223-33     Citation Subset:  IM    
Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
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MeSH Terms
Chromosome Disorders / diagnosis*
Cytogenetic Analysis
Embryo, Mammalian / abnormalities*
Fertilization in Vitro*
Genetic Testing
In Situ Hybridization, Fluorescence
Mosaicism / embryology*
Preimplantation Diagnosis*

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