Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

Mateu‐Brull, Emilia; Rodrigo, Lorena; Peinado,; Mercader, Amparo; Campos‐Galindo, Inmaculada; Bronet, F.; García-Herrero, Sandra; Florensa, M.; Milán, Miguel; Rubio, Carmen

doi:10.1007/s10815-019-01593-9

Cited by 35 publications

(28 citation statements)

References 68 publications

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“…The results might also a reflect natural selection process in gametogenesis and embryogenesis. Analysis of the transferable embryo rates between dif- ferent types of translocation showed that RT carriers had a significantly higher rate of normal/balanced blastocysts compared to rcp carriers, which is in line with a previous study [Mateu-Brull et al, 2019]. This finding was because the trivalent complex of RT had a higher percentage of alternate segregation compared to the quadrivalent complex of rcp.…”

Section: Discussionsupporting

confidence: 89%

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples

Liu

Mao

et al. 2020

Cytogenet Genome Res

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The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer. We enrolled 75 couples with a balanced translocation who underwent 83 PGT cycles (58 cycles for carriers with reciprocal translocations and 25 cycles for carriers with Robertsonian translocations) and 388 blastocysts were diagnosed. Moreover, we transferred single euploid blastocysts through frozen embryo transfer and calculated the biochemical pregnancy, clinical pregnancy, miscarriage, and ongoing pregnancy rates per embryo transfer cycle. Despite a mean maternal age of 29.8 years and mean of 4.34 embryos biopsied, there was a 32.8% chance of recording no chromosomally normal/balanced embryos for reciprocal translocation carriers. The proportion of normal/balanced embryos was significantly higher (44.1 vs. 27.8%) in Robertsonian translocation carriers than in reciprocal translocation carriers. Female carriers had a significantly lower (23.3 vs. 42.4%, 34.7 vs. 54.7%, respectively) percentage of normal/balanced embryos than male carriers, regardless of the translocation. After transfering single blastocysts, we obtained a 64.4% clinical pregnancy rate per transfer, and the clinical miscarriage rate was 5.7%. Amniocentesis results showed that all karyotypes of the fetuses were consistent with PGT results. The clinical outcomes are probably not influenced by the type of translocation, maternal age, and blastocyst morphology following the transfer of euploid blastocysts. Therefore, we conclude that NGS-based PGT is an efficient method for analyzing balanced translocation carriers, and aneuploidy screening had good clinical outcomes.

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Section: Discussionsupporting

confidence: 89%

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples

Liu

Mao

et al. 2020

Cytogenet Genome Res

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“…Considering the frequency of embryos with an unbalanced karyotype is typically higher in reciprocal than that in Robertsonian translocations and can vary considerably in inversions (39)(40)(41), outcomes in three chromosome rearrangement categories from 185 PGT-SR cycles were analyzed. It showed a lower percentage of euploid embryos for reciprocal translocation in both the EFLL group and the MLSL group.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the Number of Euploid Embryos in Preimplantation Genetic Testing Cycles With Early-Follicular Phase Long-Acting Gonadotropin-Releasing Hormone Agonist Long Protocol

Niu

et al. 2020

Front. Endocrinol.

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Studies have shown that early-follicular phase long-acting gonadotropin-releasing hormone (GnRH) agonist long protocol (EFLL), a popular controlled ovarian hyperstimulation protocol widely used in China, leads to higher rates of implantation and clinical pregnancy, as well as lower rates of spontaneous abortion and ectopic pregnancy in patients undergoing in vitro fertilization treatment. However, the impact of EFLL on euploid embryos and its underlying mechanisms remain unclear. To address these gaps of knowledge, we conducted a retrospective comparative study of 310 preimplantation genetic testing (PGT) cycles with a total of 1,541 embryos using the EFLL protocol or midluteal short-acting GnRH agonist long protocol (MLSL). Patients were matched by PGT subtype [aneuploidies (PGT-A) vs. PGT for chromosomal structural rearrangements (PGT-SR)], age (±2 years), and body mass index (±1 kg/m 2 ). For PGT-A, there was no significant difference in the number of euploid embryos (1.80 ± 1.47 for EFLL vs. 1.84 ± 2.03 for MLSL, p > 0.05) or the rate of euploidy (44.6 vs. 36.9%, p > 0.05). For PGT-SR, the number of euploid embryos in the EFLL group was significantly higher than that in the MLSL group (1.76 ± 1.54 vs. 1.21 ± 1.24, p < 0.05). A higher euploidy rate was also observed with the EFLL protocol compared with that obtained in MLSL (31.9 vs. 25.7%), although the difference was not statistically significant ( p > 0.05). Compared with the MLSL protocol, more euploid embryos were achieved when using the EFLL protocol in PGT-SR, demonstrating the value in PGT-SR. To the best of our knowledge, this study is the first one to compare embryonic outcomes between EFLL and MLSL, providing key insights into the clinical application of EFLL in PGT cycles. In the light of the limited sample size of our study, we recommend that these questions be explored using a larger prospective study.

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“…The testing capabilities of aCGH and NGS are improved by whole-genome amplification and simultaneous aneuploidy screening for all 24 chromosomes (25, 26). Higher aneuploidy rates are expected from day-3 embryos due to the decline in the incidence of chromosome abnormalities during development to the blastocyst stage (27,28). However, fewer aneuploid embryos were detected with FISH testing of cleavage-stage biopsies when compared with aCGH testing performed on cleavage and blastocyststage biopsies as well as NGS testing performed solely on blastocyst-stage biopsies.…”

Section: Discussionmentioning

confidence: 99%

“…Overall there is a high incidence of embryo arrest among translocation carriers, which has been attributed to alterations in chromosomes not directly involved in the translocation (29). Another hypothesis to account for greater embryo arrest is the decreased potential of unbalanced embryos to develop to the blastocyst stage, resulting in a net loss of unbalanced embryos from the day-3 embryo stage to blastocyst stage (28). A retrospective analysis of translocation carriers using FISH, SNP array, aCGH, and NGS testing suggested a natural selection process resulting in more normal or balanced embryos from days 5 or 6, based on the finding that there was an increase in the proportion of genetically normal or balanced embryos from day 3 (38.7%) to day 5 or 6 (74.1%) (30).…”

Section: Discussionmentioning

confidence: 99%

“…Accurate aneuploidy detection is imperative, especially in a population of translocation carriers who are at higher risk for aneuploidy (40). One explanation for this finding is the theory of interchromosomal effect, in which the presence of the translocation negatively affects the segregation of other chromosomes not involved in the translocation (28,41). Chromosomes involved in rearrangements may interfere with segregation of other chromosomes by disrupting spindle alignment during meiosis.…”

Section: Discussionmentioning

confidence: 99%

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In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing

et al. 2020

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Objective: To compare in vitro fertilization (IVF) outcomes for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) using various testing platforms. Design: Retrospective cohort. Setting: Large academic IVF center. Patient(s): Fifty-one balanced translocation carriers undergoing IVF with PGT-SR who completed a total of 91 cycles, including 31 fluorescence in-situ hybridization (FISH), 24 microarray comparative genomic hybridization (aCGH), and 36 next-generation sequencing (NGS) testing cycles. Intervention(s): PGT-SR. Main Outcome Measure(s): Primary outcome of live-birth rate and secondary outcomes including implantation rate, clinical loss rate, and percentages of normal or balanced, unbalanced, and aneuploid embryos detected. Result(s): There was no statistically significant difference in LBR, though there was a tendency toward a higher LBR for NGS testing (14 of 19, 73.7%) compared with FISH (8 of 18, 44.4%) and aCGH (10 of 20, 50.0%). The implantation rate was statistically significantly higher for NGS (16 of 20, 80.0%) compared with FISH (11 of 25, 44.0%) and aCGH (16 of 30, 53.3%). There was no statistically significant difference in clinical pregnancy losses. There was a lower percentage of normal or balanced embryos with FISH (12.5%) compared with aCGH (23.7%) and with NGS (20.7%). Conclusion(s): This is the first report of PGT-SR outcomes for translocation carriers directly comparing PGT-SR using FISH, aCGH, and NGS. Our findings suggest an improvement in pregnancy outcomes parallel to the advancement in technology and are reassuring for continued use of NGS for this population.

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Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

Cited by 35 publications

References 68 publications

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples

Analysis of the Number of Euploid Embryos in Preimplantation Genetic Testing Cycles With Early-Follicular Phase Long-Acting Gonadotropin-Releasing Hormone Agonist Long Protocol

In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing

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