TY - JOUR
T1 - Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization
AU - Rius, Mariona
AU - Obradors, Albert
AU - Daina, Gemma
AU - Ramos, Laia
AU - Pujol, Aïda
AU - Martínez-Passarell, Olga
AU - Marqus, Laura
AU - Oliver-Bonet, Maria
AU - Benet, Jordi
AU - Navarro, Joaquima
PY - 2011/7/1
Y1 - 2011/7/1
N2 - Objective: To apply a comprehensive chromosomal screening through short comparative genomic hybridization (CGH) in the preimplantation genetic diagnosis (PGD) of translocations. Design: Clinical research study. Setting: A PGD laboratory and two IVF clinics. Patient(s): Three Robertsonian translocation carriers, two reciprocal translocation carriers, and a double-translocation carrier. Intervention(s): After using the short-CGH approach in the reanalysis of two unbalanced embryos, discarded from a PGD for a reciprocal translocation carrier, the same method was applied in the PGD of day-3 embryos of translocation carriers. Main Outcome Measure(s): Ability of short CGH to detect partial chromosomal abnormalities in unbalanced embryos, translocation segregation proportions, and proportion of embryos carrying chromosomal abnormalities not related to the translocations. Result(s): The short-CGH technique detected errors resulting from the meiotic segregation of the chromosomes involved in the translocations and other abnormalities affecting the remaining chromosomes. Alternate segregation was detected most frequently among Robertsonian translocation cases, whereas unbalanced chromosome segregations were found predominantly in reciprocal ones. Aneuploidy and structural chromosome errors were found more frequently in Robertsonian than in reciprocal translocation carriers. Application of short-CGH PGD achieved pregnancy in two cases. Conclusion(s): Short CGH is a reliable approach for PGD of translocations, as it is capable of detecting partial chromosome errors caused by unbalanced segregations simultaneously to the screening of all chromosomes, and it may improve the results after PGD for translocation carriers. © 2011 by American Society for Reproductive Medicine.
AB - Objective: To apply a comprehensive chromosomal screening through short comparative genomic hybridization (CGH) in the preimplantation genetic diagnosis (PGD) of translocations. Design: Clinical research study. Setting: A PGD laboratory and two IVF clinics. Patient(s): Three Robertsonian translocation carriers, two reciprocal translocation carriers, and a double-translocation carrier. Intervention(s): After using the short-CGH approach in the reanalysis of two unbalanced embryos, discarded from a PGD for a reciprocal translocation carrier, the same method was applied in the PGD of day-3 embryos of translocation carriers. Main Outcome Measure(s): Ability of short CGH to detect partial chromosomal abnormalities in unbalanced embryos, translocation segregation proportions, and proportion of embryos carrying chromosomal abnormalities not related to the translocations. Result(s): The short-CGH technique detected errors resulting from the meiotic segregation of the chromosomes involved in the translocations and other abnormalities affecting the remaining chromosomes. Alternate segregation was detected most frequently among Robertsonian translocation cases, whereas unbalanced chromosome segregations were found predominantly in reciprocal ones. Aneuploidy and structural chromosome errors were found more frequently in Robertsonian than in reciprocal translocation carriers. Application of short-CGH PGD achieved pregnancy in two cases. Conclusion(s): Short CGH is a reliable approach for PGD of translocations, as it is capable of detecting partial chromosome errors caused by unbalanced segregations simultaneously to the screening of all chromosomes, and it may improve the results after PGD for translocation carriers. © 2011 by American Society for Reproductive Medicine.
KW - Short comparative genomic hybridization
KW - aneuploidy
KW - blastomere
KW - cryopreservation
KW - partial chromosome error
KW - preimplantation genetic diagnosis
KW - translocation
U2 - https://doi.org/10.1016/j.fertnstert.2011.04.052
DO - https://doi.org/10.1016/j.fertnstert.2011.04.052
M3 - Article
VL - 96
SP - 134
EP - 142
JO - Fertility and Sterility
JF - Fertility and Sterility
SN - 0015-0282
ER -