Dataset Information

Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.

ABSTRACT:

Objective

To evaluate the clinical outcomes in the carriers of insertional translocation (IT).

Design

Retrospective case series.

Setting

University-affiliated reproductive medical center.

Patients

Twenty-three couples with ITs.

Intervention

No direct interventions were involved; however, this study included patients who underwent preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR).

Main outcome measure

Outcome of preimplantation genetic testing for structural chromosomal rearrangements and percentage of blastocysts available for transfer.

Results

Among 23 IT carriers, 15 were simple interchromosome ITs (type A), 3 were intrachromosome IT carriers (type B), and 5 were interchromosome IT carriers combined with other translocations (type C). A total of 190 blastocysts from 30 cycles were biopsied, 187 embryos were tested successfully, and only 57 blastocysts (30.5%) from 21 patients were available for transfer (normal or balanced). The unbalanced rearrangement rate of type C was 79.2% (42/53), and the proportion of type A was 50.0% (57/114), which was significantly higher than that of type B (5%, 1/20). In type A, the probability of embryos harboring unbalanced rearrangement in female carriers was 56.0% (51/91), which was higher than that in male carriers (26.1%, 6/23). Furthermore, the haploid autosomal length value of the inserted fragment was correlated linearly with the incidence of abnormal embryos. In type A gametes, most gametes produced by 2:2 separation without crossover, and no 3:1 separation gamete was observed.

Conclusions

The chance of identifying normal or balanced and mosaic blastocysts per mature oocytes in patients with ITs are 16.6% (67/404). Greater IT complexity results in fewer transferable embryos. For simple interchromosome ITs, female carriers and those with higher haploid autosomal length values have a higher risk of producing embryos with unbalanced rearrangement.

SUBMITTER: Zhang Z

PROVIDER: S-EPMC10958698 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.

Zhang Zhiqi Z Luo Keli K Zhang Senlin S Cheng Dehua D Hu Liang L Tan Yue-Qiu YQ Zhang Shuoping S Gong Fei F Xie Pingyuan P Lin Ge G

F&S reports 20231202 1

<h4>Objective</h4>To evaluate the clinical outcomes in the carriers of insertional translocation (IT).<h4>Design</h4>Retrospective case series.<h4>Setting</h4>University-affiliated reproductive medical center.<h4>Patients</h4>Twenty-three couples with ITs.<h4>Intervention</h4>No direct interventions were involved; however, this study included patients who underwent preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR).<h4>Main outcome measure</h4>Outcome of preimplan ...[more]

PMID: 38524217

Similar Datasets

Project description:ObjectiveTo examine whether comprehensive chromosome screening (CCS) for preimplantation genetic screening (PGS) has an effect on improving in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) outcomes compared to traditional morphological methods.MethodsA literature search was conducted in PubMed, EMBASE, CNKI and ClinicalTrials.gov up to May 2015. Two reviewers independently evaluated titles and abstracts, extracted data and assessed quality. We included studies that compared the IVF/ICSI outcomes of CCS-based embryo selection with those of the traditional morphological method. Relative risk (RR) values with corresponding 95% confidence intervals (CIs) were calculated in RevMan 5.3, and subgroup analysis and Begg's test were used to assess heterogeneity and potential publication bias, respectively.ResultsFour RCTs and seven cohort studies were included. A meta-analysis of the outcomes showed that compared to morphological criteria, euploid embryos identified by CCS were more likely to be successfully implanted (RCT RR 1.32, 95% CI 1.18-1.47; cohort study RR 1.74, 95% CI 1.35-2.24). CCS-based PGS was also related to an increased clinical pregnancy rate (RCT RR 1.26, 95% CI 0.83-1.93; cohort study RR 1.48, 95% CI 1.20-1.83), an increased ongoing pregnancy rate (RCT RR 1.31, 95% CI 0.64-2.66; cohort study RR 1.61, 95% CI 1.30-2.00), and an increased live birth rate (RCT RR 1.26, 95% CI 1.05-1.50; cohort study RR 1.35, 95% CI 0.85-2.13) as well as a decreased miscarriage rate (RCT RR 0.53, 95% CI 0.24-1.15; cohort study RR 0.31, 95% CI 0.21-0.46) and a decreased multiple pregnancy rate (RCT RR 0.02, 95% CI 0.00-0.26; cohort study RR 0.19, 95% CI 0.07-0.51). The results of the subgroup analysis also showed a significantly increased implantation rate in the CCS group.ConclusionsThe effectiveness of CCS-based PGS is comparable to that of traditional morphological methods, with better outcomes for women receiving IVF/ICSI technology. The transfer of both trophectoderm-biopsied and blastomere-biopsied CCS-euploid embryos can improve the implantation rate.

Dataset Information

Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.

Objective

Design

Setting

Patients

Intervention

Main outcome measure

Results

Conclusions

Publications

Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.

Similar Datasets

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