PMID- 20172975
OWN - NLM
STAT- MEDLINE
DCOM- 20100715
LR  - 20100421
IS  - 1460-2407 (Electronic)
IS  - 1360-9947 (Linking)
VI  - 16
IP  - 5
DP  - 2010 May
TI  - A molecular strategy for routine preimplantation genetic diagnosis in both 
      reciprocal and Robertsonian translocation carriers.
PG  - 329-37
LID - 10.1093/molehr/gaq013 [doi]
AB  - Preimplantation genetic diagnosis (PGD) for structural chromosome abnormalities 
      traditionally uses fluorescence in situ hybridization (FISH) techniques. Although 
      relatively straight forward, FISH is technically demanding with several process 
      problems which include cell loss, cell overlap, variable cell fixation and 
      hybridization as well as sample mosaicism. Increasingly, alternative techniques 
      for chromosome analysis in embryos are being investigated in an attempt to 
      improve on current test outcomes. Here, we report on the first routine 
      application of a polymerase chain reaction (PCR)-based protocol for translocation 
      analysis utilizing multiplexed short tandem repeat (STR) markers located on both 
      segments of the translocated chromosomes. Resulting STR profiles permit the 
      analysis of qualitative dosage of each chromosomal segment to identify 
      translocation malsegregants from the balanced/normal chromosome complements. A 
      total of 29 patients have undergone clinical PGD testing of 78 embryos using this 
      method. The proportion of alternate segregations (i.e. balanced carrier and 
      non-carriers) detected for reciprocal and Robertsonian translocation carriers was 
      33% and 77%, respectively. Fetal heart pregnancy rates per embryo transferred was 
      46% for reciprocal carriers and 40% for Robertsonian carriers (mean number of 
      embryos transferred was 1.0). This novel approach can be applied easily within 
      any existing PGD PCR laboratory and allows for a significant improvement in the 
      identification of segregation types when compared with the standard FISH protocol 
      using combinations of distal and proximal probes. This approach increases test 
      robustness and reliability with improved interpretation of segregation outcomes, 
      decreased analysis time and also enables the straight forward combining of 
      structural chromosome analysis with monogenic testing.
FAU - Traversa, M V
AU  - Traversa MV
AD  - PGD Department, Sydney IVF, NSW 2000, Australia. maria.traversa@sydneyivf.com
FAU - Carey, L
AU  - Carey L
FAU - Leigh, D
AU  - Leigh D
LA  - eng
PT  - Journal Article
DEP - 20100219
PL  - England
TA  - Mol Hum Reprod
JT  - Molecular human reproduction
JID - 9513710
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Embryo Culture Techniques
MH  - Female
MH  - Humans
MH  - Microsatellite Repeats/*genetics
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Translocation, Genetic/*genetics
EDAT- 2010/02/23 06:00
MHDA- 2010/07/16 06:00
CRDT- 2010/02/23 06:00
PHST- 2010/02/23 06:00 [entrez]
PHST- 2010/02/23 06:00 [pubmed]
PHST- 2010/07/16 06:00 [medline]
AID - gaq013 [pii]
AID - 10.1093/molehr/gaq013 [doi]
PST - ppublish
SO  - Mol Hum Reprod. 2010 May;16(5):329-37. doi: 10.1093/molehr/gaq013. Epub 2010 Feb 
      19.