PMID- 21441546
OWN - NLM
STAT- MEDLINE
DCOM- 20110912
LR  - 20211020
IS  - 1460-2350 (Electronic)
IS  - 0268-1161 (Linking)
VI  - 26
IP  - 6
DP  - 2011 Jun
TI  - Meiotic segregation of Robertsonian translocations ascertained in cleavage-stage 
      embryos--implications for preimplantation genetic diagnosis.
PG  - 1575-84
LID - 10.1093/humrep/der080 [doi]
AB  - BACKGROUND: The aim of this study was to ascertain the prevalence of meiotic 
      segregation products in embryos from carriers of 13/14 and 14/21 Robertsonian 
      translocations and to estimate the predictive value of testing single cells using 
      the fluorescence in situ hybridization (FISH) technique, to provide more 
      information for decision-making about PGD. METHODS: In this prospective cohort 
      study, the copy number of translocation chromosomes in nuclei from lysed 
      blastomeres of cleavage-stage embryos was ascertained using locus-specific FISH 
      probes. Logistic regression analysis, controlling for translocation type, female 
      age and fertility status, was used to calculate the odds ratio (OR) of unbalanced 
      segregation products for female and male heterozygotes. The primary diagnostic 
      measure was the predictive value of the test result. The primary outcome measure 
      was the live birth rate per couple. RESULTS: Female carriers were four times more 
      likely than male carriers to produce embryos with an unbalanced translocation 
      product (OR 3.8, 95% confidence interval 2.0-7.2, P < 0.001). The prevalence of 
      abnormality for the chromosomes tested in embryos from female or male 
      heterozygotes was estimated to be 43 or 28%, respectively, while estimates of the 
      predictive value were 93-100 or 96-100% for a normal test result and 79 or 57% 
      for an abnormal test result. The live birth rate per couple was 58% for female 
      carriers and 50% for male carriers. CONCLUSIONS: For female carriers, PGD using 
      FISH could reduce the risk of miscarriage from either translocation or the risk 
      of Down syndrome from the 14/21 Robertsonian translocation. PGD using FISH for 
      male carriers is unlikely to be indicated given the relatively low prevalence of 
      chromosome imbalance and low predictive value.
FAU - Bint, S M
AU  - Bint SM
AD  - Guy's and St Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's and St 
      Thomas' Hospital NHS Foundation Trust, London, UK.
FAU - Ogilvie, C Mackie
AU  - Ogilvie CM
FAU - Flinter, F A
AU  - Flinter FA
FAU - Khalaf, Y
AU  - Khalaf Y
FAU - Scriven, P N
AU  - Scriven PN
LA  - eng
GR  - 086034/Wellcome Trust/United Kingdom
PT  - Journal Article
DEP - 20110325
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - *Cleavage Stage, Ovum
MH  - Cohort Studies
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - *Meiosis
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - *Translocation, Genetic
EDAT- 2011/03/29 06:00
MHDA- 2011/09/13 06:00
CRDT- 2011/03/29 06:00
PHST- 2011/03/29 06:00 [entrez]
PHST- 2011/03/29 06:00 [pubmed]
PHST- 2011/09/13 06:00 [medline]
AID - der080 [pii]
AID - 10.1093/humrep/der080 [doi]
PST - ppublish
SO  - Hum Reprod. 2011 Jun;26(6):1575-84. doi: 10.1093/humrep/der080. Epub 2011 Mar 25.