PMID- 14998971
OWN - NLM
STAT- MEDLINE
DCOM- 20041007
LR  - 20071115
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 19
IP  - 3
DP  - 2004 Mar
TI  - Fluorescence in situ hybridization analysis of two blastomeres from day 3 
      frozen-thawed embryos followed by analysis of the remaining embryo on day 5.
PG  - 685-93
AB  - BACKGROUND: Chromosomal mosaicism in human embryos may give rise to false 
      positive or false negative results in preimplantation genetic diagnosis for 
      aneuploidy screening (PGD-AS). Therefore, we have investigated whether the 
      results obtained from a 2-cell biopsy of frozen-thawed embryos and fluorescence 
      in situ hybridization (FISH) analysis are representative for the chromosome 
      constitution of the remaining embryo on day 5. METHODS: Cryopreserved day 3 
      embryos were thawed and from surviving embryos two blastomeres were biopsied. 
      FISH analysis was performed for chromosomes 1, 7, 13, 15, 16, 18, 21, 22, X and 
      Y. After biopsy, the embryos were cultured until day 5 and further analysed using 
      the same probe panels. RESULTS: In all, 17 embryos were available with a 
      diagnosis based on two blastomeres on day 3 and confirmatory studies on day 5. In 
      10 of these 17 cases the initial diagnosis could be confirmed. However, in only 
      six cases cytogenetic results were concordant. Besides the 10 cases with a 
      'correct' diagnosis, there were six false positive results and one false 
      negative, all involving mosaicism. CONCLUSIONS: Investigating the chromosomal 
      constitution of two blastomere nuclei offers a good opportunity to study the 
      incidence of chromosomal mosaicism in early embryo development. The confirmation 
      rate of the results obtained on day 3 depends on the interpretation and is higher 
      when considered from a clinical than from a cytogenetic point of view.
FAU - Baart, E B
AU  - Baart EB
AD  - Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, 
      Erasmus Medical Centre, Rotterdam, The Netherlands. e.baart@erasmusmc.nl
FAU - Van Opstal, D
AU  - Van Opstal D
FAU - Los, F J
AU  - Los FJ
FAU - Fauser, B C J M
AU  - Fauser BC
FAU - Martini, E
AU  - Martini E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20040129
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
MH  - Aneuploidy
MH  - Biopsy
MH  - Blastomeres/*pathology
MH  - Cell Nucleus/ultrastructure
MH  - *Chromosomes, Human
MH  - Cryopreservation
MH  - Culture Techniques
MH  - Embryo, Mammalian/physiology
MH  - *Embryonic and Fetal Development
MH  - False Negative Reactions
MH  - False Positive Reactions
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - Preimplantation Diagnosis
EDAT- 2004/03/05 05:00
MHDA- 2004/10/08 09:00
CRDT- 2004/03/05 05:00
PHST- 2004/03/05 05:00 [pubmed]
PHST- 2004/10/08 09:00 [medline]
PHST- 2004/03/05 05:00 [entrez]
AID - deh094 [pii]
AID - 10.1093/humrep/deh094 [doi]
PST - ppublish
SO  - Hum Reprod. 2004 Mar;19(3):685-93. doi: 10.1093/humrep/deh094. Epub 2004 Jan 29.