PMID- 16192709
OWN - NLM
STAT- MEDLINE
DCOM- 20060123
LR  - 20220311
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 111
IP  - 3-4
DP  - 2005
TI  - Analysis of chromosome segregation during preimplantation genetic diagnosis in 
      both male and female translocation heterozygotes.
PG  - 305-9
AB  - Individuals carrying translocations suffer from reduced fertility or spontaneous 
      abortions and seek help in form of assisted reproductive technology (ART) and 
      preimplantation genetic diagnosis (PGD). While most translocations are relatively 
      easy to detect in metaphase cells, the majority of embryonic cells biopsied in 
      the course of in vitro fertilization (IVF) procedures are in interphase. These 
      nuclei are thus unsuitable for analysis by chromosome banding or painting using 
      fluorescence in situ hybridization (FISH). Thus several methods have been devised 
      to detect translocation imbalance through FISH in single cells for purpose of 
      PGD, among them polar body chromosome painting, interphase FISH with combination 
      of subtelomeric and centromeric probes, breakpoint spanning probes, and cell 
      conversion. Results with PGD indicate a significant decrease in spontaneous 
      abortions, from 81% before PGD to 13% after PGD. They also indicate very high 
      rates of chromosome abnormalities in embryos from translocation carriers, 72% for 
      Robertsonian translocations and 82% for reciprocal translocations. Sperm analysis 
      was found to be a good predictor of IVF and PGD outcome, with samples with more 
      than 60% abnormal forms indicating poor prognosis. Similarly, the predictability 
      from first PGD cycle results for future cycles was 90%. In summary, PGD can help 
      translocation carriers to achieve viable pregnancies, but the success of the 
      process is conversely related to the baseline of unbalanced gametes.
CI  - Copyright 2005 S. Karger AG, Basel.
FAU - Munne, S
AU  - Munne S
AD  - Reprogenetics, LLC, West Orange, NJ 07052, USA. munne@Embryos.net
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Blastula/*physiology
MH  - Chromosome Aberrations
MH  - *Chromosome Segregation
MH  - Embryonic Development/genetics
MH  - Female
MH  - Fertilization in Vitro
MH  - Humans
MH  - Male
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Prenatal Diagnosis
MH  - *Translocation, Genetic
RF  - 52
EDAT- 2005/09/30 09:00
MHDA- 2006/01/24 09:00
CRDT- 2005/09/30 09:00
PHST- 2004/10/15 00:00 [received]
PHST- 2005/02/16 00:00 [accepted]
PHST- 2005/09/30 09:00 [pubmed]
PHST- 2006/01/24 09:00 [medline]
PHST- 2005/09/30 09:00 [entrez]
AID - 86904 [pii]
AID - 10.1159/000086904 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2005;111(3-4):305-9. doi: 10.1159/000086904.