PMID- 16954671
OWN - NLM
STAT- MEDLINE
DCOM- 20060918
LR  - 20071114
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 114
IP  - 3-4
DP  - 2006
TI  - Molecular cytogenetic studies towards the full karyotype analysis of human 
      blastocysts and cytotrophoblasts.
PG  - 302-11
AB  - Numerical chromosome aberrations in gametes typically lead to failed 
      fertilization, spontaneous abortion or a chromosomally abnormal fetus. By means 
      of preimplantation genetic diagnosis (PGD), we now can screen human embryos in 
      vitro for aneuploidy before transferring the embryos to the uterus. PGD allows us 
      to select unaffected embryos for transfer and increases the implantation rate in 
      in vitro fertilization programs. Molecular cytogenetic analyses using multi-color 
      fluorescence in situ hybridization (FISH) of blastomeres have become the major 
      tool for preimplantation genetic screening of aneuploidy. However, current FISH 
      technology can test for only a small number of chromosome abnormalities and 
      hitherto failed to increase the pregnancy rates as expected. We are in the 
      process of developing multi-color FISH-based technologies to score all 24 
      chromosomes in single cells within a three-day time limit, which we believe is 
      vital to the clinical setting. Also, human placental cytotrophoblasts (CTBs) at 
      the fetal-maternal interface acquire aneuploidies as they differentiate to an 
      invasive phenotype. About 20-50% of invasive CTB cells from uncomplicated 
      pregnancies were found to be aneuploid, suggesting that the acquisition of 
      aneuploidy is an important component of normal placentation, perhaps limiting the 
      proliferative and invasive potential of CTBs. Since most invasive CTBs are 
      interphase cells and possess extreme heterogeneity, we applied multi-color FISH 
      and repeated hybridizations to investigate the feasibility of a full karyotype 
      analysis of individual CTBs. In summary, this study demonstrates the strength of 
      Spectral Imaging analysis and repeated hybridizations, which provides a basis for 
      full karyotype analysis of single interphase cells.
CI  - Copyright 2006 S. Karger AG, Basel.
FAU - Weier, J F
AU  - Weier JF
AD  - Department of Obstetrics, Gynecology and Reproductive Sciences, University of 
      California, San Francisco, CA 94143-0720, USA. jlfung@itsa.ucsf.edu
FAU - Ferlatte, C
AU  - Ferlatte C
FAU - Baumgartner, A
AU  - Baumgartner A
FAU - Jung, C J
AU  - Jung CJ
FAU - Nguyen, H-N
AU  - Nguyen HN
FAU - Chu, L W
AU  - Chu LW
FAU - Pedersen, R A
AU  - Pedersen RA
FAU - Fisher, S J
AU  - Fisher SJ
FAU - Weier, H-U G
AU  - Weier HU
LA  - eng
GR  - CA88258/CA/NCI NIH HHS/United States
GR  - HD30367/HD/NICHD NIH HHS/United States
GR  - HD41425/HD/NICHD NIH HHS/United States
GR  - HD44313/HD/NICHD NIH HHS/United States
GR  - HD45736/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Blastocyst/*cytology/pathology
MH  - Chromosome Aberrations/*embryology
MH  - Female
MH  - Fertilization in Vitro
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - *Karyotyping
MH  - Maternal-Fetal Exchange
MH  - Metaphase
MH  - Pregnancy
MH  - Trisomy/genetics
MH  - Trophoblasts/*cytology/pathology
EDAT- 2006/09/07 09:00
MHDA- 2006/09/19 09:00
CRDT- 2006/09/07 09:00
PHST- 2005/11/16 00:00 [received]
PHST- 2006/03/06 00:00 [accepted]
PHST- 2006/09/07 09:00 [pubmed]
PHST- 2006/09/19 09:00 [medline]
PHST- 2006/09/07 09:00 [entrez]
AID - 94218 [pii]
AID - 10.1159/000094218 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2006;114(3-4):302-11. doi: 10.1159/000094218.