PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

Fiorentino, Francesco; Spizzichino, Letizia; Bono, Sara; Biricik, Anıl; Kokkali, Georgia; Rienzi, Laura; Ubaldi, Filippo Maria; Iammarrone, E.; Gordon, Alexander; Pantos, K.

doi:10.1093/humrep/der082

Cited by 217 publications

(175 citation statements)

References 43 publications

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“…A complete overview of embryonic chromosomes is difficult because of the number of in vitro cultured embryonic cells is generally small. However, recent technical developments in single cell amplification and microarray analysis make it possible to test chromosomes during the early embryonic stages [12][13][14].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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Purpose To investigate chromosomal characteristics in the same embryos at cleavage and blastocyst stage. Methods Six PGD/PGS cycles were retrospective studied, including five chromosomal translocation PGD cycles and one recurrent abortion PGS cycle. The cleavage embryos were biopsied one blastomere at day 3, followed by blastocyst culture. Trophectoderm cell biopsy was performed when embryos developed into the blastocyst stage. Whole genome amplification and 24-chromosomal analysis by CGH/SNP microarray was performed on each blastomere and trophectoderm cells. Results After PGD/PGS, only one couple had no euploid embryos to transfer. Five couples delivered a healthy, balancedkaryotype baby. A total of 18 embryos had both blastomere and trophectoderm cell reliable results available. Of the 18 embryos, eleven embryos contained identical chromosomes from cleavage stage to blastocyst stage and six embryos contained almost identical chromosomes . Only one embryo presented opposite chromosomal results for the cleavage and blastocyst stage, with abnormal chromosomes in the blastomere but normal chromosomes in trophectoderm cells. Conclusions Most embryos maintain chromosomal stability during embryonic development. Compared to cleavage stage, blastocyst stage may provide more reliable aneuploidy results.

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Section: Discussionmentioning

confidence: 99%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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“…The embryonic DNA is amplified by whole genome amplification and then tested by chromosome microarray analysis to distinguish balanced from unbalanced embryos. Successful application of these diagnostic technologies on a large number of patient embryos has resulted in increased implantation, pregnancy and live birth rates, and importantly, lower miscarriage rates [10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

“…Further, in those embryos that are diagnosed as balanced, there is the possibility of additional incidental aneuploidies, including whole or partial chromosomal gains and losses, mosaicism, and segmental imbalances in other chromosomes that are known to commonly arise by either non-disjunction errors [15] or breakage-fusion-bridge cycles [16]. So far, the technology developed for PGD of translocations has primarily focused on the detection of unbalanced chromosome derivatives and incidental whole or partial chromosomal aneuploidies using 24-chromosome testing either by chromosome microarray analysis [11,12] or next-generation sequencing (NGS) [13,[17][18][19][20]. We speculated that a higherresolution technology with the capacity to additionally detect more subtle chromosomal abnormalities might further benefit patients undertaking PGD cycles for translocations.…”

Section: Introductionmentioning

confidence: 99%

Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations

Zhang

Liu

Wang

et al. 2016

J Assist Reprod Genet

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Purpose The purpose of this study was to apply nextgeneration sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations. Methods A total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq).Results Testing of 98 embryo samples identified 68 aneuploid (69.4 %) and 30 (30.6 %) euploid embryos. Among the aneuploid embryos, the most common abnormalities were segmental translocation imbalances, followed by whole autosomal trisomies and monosomies, segmental imbalances of nontranslocation chromosomes, and mosaicism. In all unbalanced embryos resulting from reciprocal translocations, CNV-Seq precisely identified both segmental imbalances, extending from the predicted breakpoints to the chromosome termini. From the 21 PGD cycles, eight patients had all abnormal embryos and 13 patients had at least one normal/balanced and euploid embryo available for transfer. In nine intrauterine transfer cycles, seven healthy babies have been born. In four of the seven children tested at 18 weeks gestation, the karyotypes matched with the original PGD results. Conclusion In clinical PGD translocation cycles, CNV-Seq displayed the hallmarks of a comprehensive diagnostic technology for high-resolution 24-chromosome testing of embryos, capable of identifying true euploid embryos for transfer.

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“…2 Since 2008, there was emerging evidence regarding the use of array CGH in both translocation carriers and preimplantation aneuploidy screening. [3][4][5] Using aCGH, it could obtain information on all 24 chromosomes to detect aneuploidy, which is common in early human embryos, other than in translocated genetic material. 4 Recourse to WGA in aCGH allowed us to use a single blastomere for both diagnoses as the amplified products could also be used for PCR.…”

Section: Discussionmentioning

confidence: 99%

Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia

Lee¹,

Chow²,

Lau³

et al. 2014

Hong Kong Med J

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PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

Cited by 217 publications

References 43 publications

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations

Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia

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