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Hum. Reprod. Advance Access originally published online on January 5, 2006
Human Reproduction 2006 21(4):1076-1082; doi:10.1093/humrep/dei417
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement

Mary D. Stephenson1,2,3,4 and Sony Sierra2

1 Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL, USA, 2 Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, Canada and 3 Recurrent Pregnancy Loss Program, British Columbia’s Women’s Hospital & Health Centre, Vancouver, Canada

4 To whom correspondence should be addressed at: University of Chicago, 5841 South Maryland Avenue (MC2050), Chicago, IL 60637, USA. E-mail: mstephen{at}babies.bsd.uchicago.edu

BACKGROUND: Reproductive outcome studies of couples with a history of recurrent pregnancy loss (RPL) associated with a maternal or paternal carrier of a structural chromosome rearrangement are limited. Correlation of carrier status and cytogenetics of miscarriage specimens is critical to estimate subsequent pregnancy outcome. METHODS: Couples found to have a structural chromosome rearrangement were followed prospectively in a tertiary academic centre. Descriptive analysis and subsequent pregnancy outcomes were tabulated and compared to historic controls. RESULTS: In 1893 RPL couples, 51 carriers of a structural chromosome rearrangement were identified (2.7%). Overall, this cohort had a total of 273 documented pregnancies. Prior to evaluation, the mean maternal age at the time of delivery or miscarriage was 29.8 years and the live birth rate was 15%. Following evaluation and treatment of concomitant factors, there were 58 monitored pregnancies, with a live birth rate of 71%. Amniocentesis was performed on 22% of the ongoing pregnancies; all were diploid or balanced structural chromosome rearrangements. Thirty-six per cent of the miscarriages were found to have an unbalanced structural chromosome rearrangement. CONCLUSIONS: Following evaluation and management of RPL, the live birth rate for carriers of a structural chromosome rearrangement is highly encouraging at 71%, without the addition of assisted reproductive technology.

Key words: miscarriage/recurrent pregnancy loss/structural chromosome rearrangement/translocation


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