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Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Summary

Purpose

To evaluate the proportions of abnormal and normal embryos detected by preimplantation genetic diagnosis (PGD) of infertile couples of whom one was a Robertsonian translocation (RT) carrier, and to provide practical information, including details of reproductive outcomes, to aid in genetic counseling of such couples.

Methods

We retrospectively analyzed all PGD cycles conducted to deal with RT at our center between January 2000 and December 2009. Subject demographic and clinical data were compared with the results of PGD.

Results

Employing PGD, we conducted a total of 66 cycles on 34 couples of whom one was an RT carrier, including 24 female and 10 male carriers. Of the 514 blastomeres tested, 161 (31.3%) were normal or balanced. Of the 57 cycles that included embryo transfer, 17 (29.8%) attained positivity for human chorionic gonadotropin (hCG). A total of 17 embryos were implanted and 16 babies, including two sets of twins, were born. The takehome baby rate was 41.2% per couple and the loss rate 6.6%. Receiver operating characteristic curve analysis showed that the proportion of alternate embryos associated with a sensitivity of 70.6% for prediction of clinical pregnancy following PGD was 0.31. Sex of the carrier and type of translocation were not significantly associated with pregnancy outcomes.

Conclusion

Couples with RT may benefit from PGD; pregnancy success rate is improved and embryo loss reduced. We found that about 30% of embryos were of normal or balanced chromosomal constitution and that the percentage of normal or balanced embryos was predictive of PGD outcome.

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Acknowledgments

This study was supported by a grant (no. A084923) from the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea.

This work was presented, in part, at the 64th Annual Meeting of the American Society for Reproductive Medicine, San Francisco, CA, on November 8, 2008.

Author information

Authors and Affiliations

  1. Fertility Center of CHA Gangnam Medical Center, Department of Obstetrics and Gynecology, 606-13 Yeoksam-dong, Gangnam-gu, Seoul, 135-081, South Korea

    Eun Mi Chang, Ji Eun Han, In Pyung Kwak, Woo Sik Lee & Tae Ki Yoon

  2. Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, Department of Biomedical Science, CHA University, 606-13 Yeoksam-dong, Gangnam-gu, Seoul, 135-081, South Korea

    Sung Han Shim

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  1. Eun Mi Chang
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  2. Ji Eun Han
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Correspondence to Sung Han Shim.

Additional information

Capsule Couples with RT may have benefit from PGD by improving success rate of pregnancy with reducing loss and ratio of normal or balance embryo has value in predicting PGD outcome.

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Chang, E.M., Han, J.E., Kwak, I.P. et al. Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling. J Assist Reprod Genet 29, 67–75 (2012). https://doi.org/10.1007/s10815-011-9654-1

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  • DOI: https://doi.org/10.1007/s10815-011-9654-1

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