The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)

Boynukalın, Fazilet Kübra; Gültomruk, Meral; Turgut, Niyazi Emre; Rubio, Carmen; Rodrigo, Lorena; Yarkıner, Zalihe; Ecemis, Selen; Karlikaya, G.; Fındıklı, Necati; Bahçeci, Mustafa

doi:10.1007/s10815-020-02054-4

Cited by 10 publications

(9 citation statements)

References 62 publications

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“…Some reports focusing on ICE show that RecT carriers have a higher abnormality in nontranslocated chromosomes containing unbalanced chromosomes 27,40 . In addition, the incidence of ICE by the location of breakpoints on the RecT chromosomes has been reported to be high in short‐arm translocations 26 . The difference in the location of breakpoints in RecT would affect the rearrangement and pairing of translocated chromosomes and normal homologous chromosomes compared with RobT.…”

Section: Discussionmentioning

confidence: 99%

“…25 RobT carriers are shown to have more impact on ICE than RecT carriers, albeit in some contradictory reports. [26][27][28] However, it is still unclear how ovarian stimulation, female age at oocyte retrieval, carrier gender, and ICE impact chromosomal abnormalities during meiosis in translocation carriers.…”

Section: Introductionmentioning

confidence: 99%

“…So far, translocation carriers with the acrocentric chromosome or telomere region have been reported to have a high chromosomal abnormality rate 25 . RobT carriers are shown to have more impact on ICE than RecT carriers, albeit in some contradictory reports 26–28 . However, it is still unclear how ovarian stimulation, female age at oocyte retrieval, carrier gender, and ICE impact chromosomal abnormalities during meiosis in translocation carriers.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement

Nakano¹,

Ammae²,

Satoh³

et al. 2022

Reprod Medicine & Biology

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Purpose: To retrospectively evaluate the effectiveness of PGT-SR by array comparative genomic hybridization (aCGH) or next-generation sequencing (NGS) in preventing recurrent miscarriages.Methods: Thirty one couples with balanced translocation who underwent 68 PGT-SR cycles between 2012 and 2020 were evaluated. A total of 242 blastocysts were biopsied for aCGH or NGS. The genetically transferable blastocysts were transferred in the subsequent frozen-thawed single embryo transfer cycle. Results:The genetically transferable blastocyst rate was 21.2% (51/241). Thirty five genetically transferable blastocysts were transferred into the uterine cavity. The clinical pregnancy rate was 57.1% (20/35), and the ongoing pregnancy rate was 100.0% (20/20). The incidence of interchromosomal effect (ICE) was influenced by ovarian stimulation protocol, female age, and carrier's gender, but dependent on the types of balanced translocation carriers. Furthermore, there was no significant difference in meiotic segregation modes in ovarian stimulation protocols and carrier's gender.Interestingly, the incidence of adjacent-1 segregation in ≧40 years group increased significantly compared with <35 years group. Conclusions:For the first time in Japan, we show the effectiveness of PGT-SR using aCGH or NGS, which enables comprehensive analysis of chromosomes, in the prevention of recurrent miscarriages. Furthermore, our results may support better genetic counseling of balanced translocation carriers for PGT-SR cycles.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement

Nakano¹,

Ammae²,

Satoh³

et al. 2022

Reprod Medicine & Biology

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“…Research has indicated that individuals carrying chromosomal translocations exhibit a reduced rate of blastocyst formation and delayed blastocyst development. Various translocation characteristics, including carrier sex, translocation types and chromosome length, may exert distinct detrimental effects on the process of blastocyst development, as evidenced by relevant literature [ 7 – 9 ]. Scholars generally believe that the carrier sex and translocation type have significant effects on chromosome ploidy of blastocysts [ 10 – 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…Scholars generally believe that the carrier sex and translocation type have significant effects on chromosome ploidy of blastocysts [ 10 – 12 ]. There is no inevitable relationship between breakpoint positions and blastocyst outcomes [ 9 ]. Some researchers suggested that male carriers may be a risk factor for fertilization rate [ 13 ], this may be related to differences in the mechanism of gamete meiosis and the probability of errors between male and female gametes [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study

Wu,

Zhang,

Guan

et al. 2023

BMC Med Genomics

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Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of Zhengzhou University From January 2017 to December 2022.All couples were diagnosed as reciprocal translocation or Robertsonian translocation by karyotype of peripheral blood lymphocytes test. After adjusting for confounding factors, the effect of chromosomal rearrangement characteristics, such as carrier sex, translocation type, chromosome length and break sites, on fertilization rate and embryo development were analysed separately using multiple linear regression. Results In cases of Robertsonian translocation (RobT), the carrier sex plays an independent role in fertilization rate, and the male carriers was lower than that of female carriers (76.16% vs.86.26%, P = 0.009). In reciprocal translocation (RecT), the carrier sex, chromosome types and break sites had no influence on fertilization rate, blastocyst formation rate (P > 0.05). However, patients with human longer chromosomal (chromosomes 1–5) translocation have a lower available blastocyst formation rate (Group AB vs. Group CD: 41.49%vs.46.01%, P = 0.027). For male carriers, the translocation types was an independent factor affecting the fertilization rate, and the RobT was the negative one (B = − 0.075, P = 0 0.009). In female carriers, we did not observe this difference (P = 0.227). Conclusions In patients with chromosomal translocation, the fertilization rate may be influenced by carrier sex and translocation type, chromosomes 1–5 translocation may adversely affect the formation of available blastocysts. Break sites have no role in fertilization and blastocyst development.

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PGT-SR: the red-herring and the siren; interchromosomal effect and screening for unrelated aneuploidy

Scriven¹

2021

J Assist Reprod Genet

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The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)

Cited by 10 publications

References 62 publications

Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement

Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement

Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study

PGT-SR: the red-herring and the siren; interchromosomal effect and screening for unrelated aneuploidy

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