Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement.
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.
Stephenson
Mary D
MD
Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL 60637, USA. mstephen@babies.bsd.uchicago.edu
Sierra
Sony
S
D000026:Abortion, Habitual / Q000235:genetics*; D001723:Birth Rate; D007446:Chromosome Inversion; D005260:Female; D006579:Heterozygote; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome; D011446:Prospective Studies; D014178:Translocation, Genetic