OBJECTIVE: To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN: Retrospective study. SETTING: Clinical IVF laboratory. PATIENT(S): Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S): PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): Several trends were observed. First, PGD can achieve a statistically significant reduction in spontaneous abortion, from 95% to 13%. Second, the chances of achieving pregnancy are correlated with 50% or more of the embryos being chromosomally normal. Third, patients with robertsonian translocations produced fewer abnormal gametes and more pregnancies than did patients with reciprocal translocations. Fourth, a new fluorescence in situ hybridization protocol for PGD of translocations, which involves applying telomeric probes, has proved adequately reliable with a 6% average error rate. CONCLUSION(S): PGD of translocations achieves a statistically significant reduction in spontaneous abortion, both for polar-body and blastomere biopsy cases. Pregnancy outcome depended on the number of normal embryos available for transfer, with patients having <50% abnormal embryos achieving the most pregnancies. Because robertsonian translocations caused fewer abnormal embryos than reciprocal translocations, they also resulted in higher rates of implantation.
OBJECTIVE: To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN: Retrospective study. SETTING: Clinical IVF laboratory. PATIENT(S): Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S): PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): Several trends were observed. First, PGD can achieve a statistically significant reduction in spontaneous abortion, from 95% to 13%. Second, the chances of achieving pregnancy are correlated with 50% or more of the embryos being chromosomally normal. Third, patients with robertsonian translocations produced fewer abnormal gametes and more pregnancies than did patients with reciprocal translocations. Fourth, a new fluorescence in situ hybridization protocol for PGD of translocations, which involves applying telomeric probes, has proved adequately reliable with a 6% average error rate. CONCLUSION(S): PGD of translocations achieves a statistically significant reduction in spontaneous abortion, both for polar-body and blastomere biopsy cases. Pregnancy outcome depended on the number of normal embryos available for transfer, with patients having <50% abnormal embryos achieving the most pregnancies. Because robertsonian translocations caused fewer abnormal embryos than reciprocal translocations, they also resulted in higher rates of implantation.
Authors: Eun Mi Chang; Ji Eun Han; In Pyung Kwak; Woo Sik Lee; Tae Ki Yoon; Sung Han Shim Journal: J Assist Reprod Genet Date: 2011-11-12 Impact factor: 3.412
Authors: Chris M J van Uum; Servi J C Stevens; Joseph C F M Dreesen; Marion Drüsedau; Hubert J Smeets; Bertien Hollanders-Crombach; Christine E M de Die-Smulders; Joep P M Geraedts; John J M Engelen; Edith Coonen Journal: Eur J Hum Genet Date: 2012-02-29 Impact factor: 4.246
Authors: Kyle J Tobler; Paul R Brezina; Andrew T Benner; Luke Du; Xin Xu; William G Kearns Journal: J Assist Reprod Genet Date: 2014-04-26 Impact factor: 3.412