Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes.
OBJECTIVE
To estimate chromosomal imbalances in preimplantation embryos from reciprocal translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles.


METHODS
Fluorescence in situ hybridization was applied to PGD cycles for reciprocal translocation carriers.


METHODS
University-based centers for reproductive medicine.


METHODS
Ten and 24 patients of reciprocal translocation with and without Acro-Ch, respectively.


METHODS
Fluorescence in situ hybridization in biopsied blastomeres.


METHODS
Estimation of meiotic segregation mode in embryos from translocation carriers.


RESULTS
The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%).


CONCLUSIONS
This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal translocation carriers for PGD-fluorescence in situ hybridization cycles.
Lim
Chun Kyu
CK
Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, South Korea.
Cho
Jae Won
JW
Song
In Ok
IO
Kang
Inn Soo
IS
Yoon
Yong-Dal
YD
Jun
Jin Hyun
JH
D000022:Abortion, Spontaneous / Q000209:etiology; D000328:Adult; D020090:Chromosome Segregation; D002877:Chromosomes, Human; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000628:therapy*; D007621:Karyotyping; D007723:Korea; D050498:Live Birth; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D027724:Reproductive Techniques, Assisted / Q000009:adverse effects; D012189:Retrospective Studies; D014178:Translocation, Genetic; D016896:Treatment Outcome