PMID- 21403624
OWN - NLM
STAT- MEDLINE
DCOM- 20110610
LR  - 20211020
IS  - 1940-087X (Electronic)
IS  - 1940-087X (Linking)
IP  - 48
DP  - 2011 Feb 23
TI  - FISH for pre-implantation genetic diagnosis.
LID - 2570 [pii]
LID - 10.3791/2570 [doi]
AB  - Pre-implantation genetic diagnosis (PGD) is an established alternative to 
      pre-natal diagnosis, and involves selecting pre-implantation embryos from a 
      cohort generated by assisted reproduction technology (ART). This selection may be 
      required because of familial monogenic disease (e.g. cystic fibrosis), or because 
      one partner carries a chromosome rearrangement (e.g. a two-way reciprocal 
      translocation). PGD is available for couples who have had previous affected 
      children, and/or in the case of chromosome rearrangements, recurrent 
      miscarriages, or infertility. Oocytes aspirated following ovarian stimulation are 
      fertilized by in vitro immersion in semen (IVF) or by intracytoplasmic injection 
      of an individual spermatozoon (ICSI). Pre-implantation cleavage-stage embryos are 
      biopsied, usually by the removal of a single cell on day 3 post-fertilization, 
      and the biopsied cell is tested to establish the genetic status of the embryo. 
      Fluorescence in situ hybridization (FISH) on the fixed nuclei of biopsied cells 
      with target-specific DNA probes is the technique of choice to detect chromosome 
      imbalance associated with chromosome rearrangements, and to select female embryos 
      in families with X-linked disease for which there is no mutation-specific test. 
      FISH has also been used to screen embryos for spontaneous chromosome aneuploidy 
      (also known as PGS or PGD-AS) in order to try and improve the efficiency of 
      assisted reproduction; however, the predictive value of this test using the 
      spreading and FISH technique described here is likely to be unacceptably low in 
      most people's hands and it is not recommended for routine clinical use. We 
      describe the selection of suitable probes for single-cell FISH, spreading 
      techniques for blastomere nuclei, and in situ hybridization and signal scoring, 
      applied to PGD in a clinical setting.
FAU - Scriven, Paul N
AU  - Scriven PN
AD  - Department of Cytogenetics, GSTS-Pathology, Guy's & St Thomas' NHS Foundation 
      Trust, Guy's & St Thomas' Centre for Preimplantation Genetic Diagnosis.
FAU - Kirby, Toby L
AU  - Kirby TL
FAU - Ogilvie, Caroline Mackie
AU  - Ogilvie CM
LA  - eng
PT  - Journal Article
PT  - Video-Audio Media
DEP - 20110223
PL  - United States
TA  - J Vis Exp
JT  - Journal of visualized experiments : JoVE
JID - 101313252
SB  - IM
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
PMC - PMC3197414
EDAT- 2011/03/16 06:00
MHDA- 2011/06/11 06:00
PMCR- 2013/02/23
CRDT- 2011/03/16 06:00
PHST- 2011/03/16 06:00 [entrez]
PHST- 2011/03/16 06:00 [pubmed]
PHST- 2011/06/11 06:00 [medline]
PHST- 2013/02/23 00:00 [pmc-release]
AID - 2570 [pii]
AID - 10.3791/2570 [doi]
PST - epublish
SO  - J Vis Exp. 2011 Feb 23;(48):2570. doi: 10.3791/2570.