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

2021 ◽  
pp. 1-9
Author(s):  
Hongfang Liu ◽  
Bin Mao ◽  
Xiaojuan Xu ◽  
Lin Liu ◽  
Xiaoling Ma ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Clinical Outcomes ◽  
Embryo Transfer ◽  
Reciprocal Translocation ◽  
Maternal Age ◽  
Clinical Pregnancy ◽  
Balanced Translocation ◽  
Preimplantation Genetic Testing ◽  
Generation Sequencing

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.

scholarly journals Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst

2019 ◽  
Vol 7 (24) ◽  
pp. 4427-4431 ◽  
Author(s):  
Tien-Truong Dang ◽  
Thi Mui Phung ◽  
Hoang Le ◽  
Thi-Bich-Van Nguyen ◽  
Thi Sim Nguyen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Abnormal Chromosome ◽  
High Rate ◽  
Next Generation ◽  
Chromosome 11 ◽  
Preimplantation Genetic Testing ◽  
Generation Sequencing

BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of embryos in vitro fertilization (IVF). AIM: This study was aimed to assess the relationship between maternal age and chromosomal abnormalities NGS technology. METHODS: 603 human trophectoderm (TE) biopsied samples were tested by Veriseq kit of Illumina. The relation of marternal age and chromosomal abnormality of blastocyst embryo was evaluated. RESULTS: Among the 603 TE samples, 247 samples (42.73%) presented as chromosomal abnormalities. The abnormalities occurred to almost chromosomes, and the most popular aneuploidy observed is 22. Aneuploidy rate from 0.87% in chromosome 11 to 6.06% in chromosome 22. The rate of abnormal chromosome increased dramatically in group of mother's ages over 37 (54.17%) comparing to group of mother's ages less than 37 (38.05%) (p < 0.000). The Abnormal chromosome and maternal age has a positive correlation with r = 0.4783 (p<0.0001). CONCLUSION: These results showed high rate abnormal chromosome and correlated with advanced maternal age of blastocyst embryos.

Effect of next-generation sequencing in preimplantation genetic testing on live birth ratio

2018 ◽  
Vol 30 (12) ◽  
pp. 1720 ◽  
Author(s):  
Joanna Liss ◽  
Ewa Pastuszek ◽  
Sebastian Pukszta ◽  
Eva Hoffmann ◽  
Waldemar Kuczynski ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Embryo Transfer ◽  
Live Birth ◽  
Live Birth Rate ◽  
Frozen Embryo Transfer ◽  
Control Group ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Generation Sequencing

The present study analysed live birth ratios in frozen embryo transfer (FET) cycles where embryo ploidy status was determined with preimplantation genetic testing (PGT) using next-generation sequencing (NGS). PGT was performed on trophectoderm cells biopsied at the blastocyst stage. The present prospective cohort study included 112 women undergoing frozen embryo transfer, with NGS PGT. The control group consisted of 85 patients who underwent the IVF procedure with FET planned for a subsequent cycle. The live birth rate per cycle was higher by ~18.5 percentage points in the investigated compared with control group (42.0% vs 23.5% respectively; P = 0.012). The differences between the study and control groups were also significant for clinical pregnancy (42.0% vs 23.5% respectively; P = 0.012), implantation (41.2% vs 22.2% respectively; P = 0.001) and pregnancy loss rates (9.6% vs 28.6% respectively; P = 0.027). The results show that PGT NGS is a useful method for embryo selection and it may be implemented in routine clinical practice with propitious results.

scholarly journals Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement

2021 ◽  
Author(s):  
Dehua Cheng ◽  
Liang Hu ◽  
Fei Gong ◽  
Shimin Yuan ◽  
Keli Luo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Outcomes ◽  
Embryo Transfer ◽  
Chromosome Rearrangement ◽  
Normal Embryo ◽  
Structural Rearrangements ◽  
Junction Region ◽  
Preimplantation Genetic Testing ◽  
Developmental Issues ◽  
Generation Sequencing

Abstract Purpose The purpose of this study is to summarize the clinical outcomes of apparently balanced chromosome rearrangement (ABCR) carriers in preimplantation genetic testing (PGT) cycles by next-generation sequencing following microdissecting junction region (MicroSeq) to distinguish non-carrier embryos from balanced carriers. Methods A retrospective study of 762 ABCR carrier couples who requested PGT for structural rearrangements combined with MicroSeq at the Reproductive and Genetic Hospital of CITIC-Xiangya was conducted between October 2014 and October 2019. Results Trophectoderm biopsy was performed in 4122 blastocysts derived from 917 PGT-SR cycles and 3781 blastocysts were detected. Among the 3781 blastocysts diagnosed, 1433 (37.9%, 1433/3781) were balanced, of which 739 blastocysts were carriers (51.57%, 739/1433) and 694 blastocysts were normal (48.43%, 694/1433). Approximately 26.39% of cycles had both carrier and normal embryo transfer, and the average number of biopsied blastocysts was 6.7. In the cumulative 223 biopsied cycles with normal embryo transfer, all couples chose to transfer the normal embryos. In the 225 cycles with only carrier embryos, the couples chose to transfer the carrier embryos in 169/225 (75.11%) cycles. A total of 732 frozen embryo transfer cycles were performed, resulting in 502 clinical pregnancies. Cumulatively, 326 babies were born; all of these babies were healthy and free of any developmental issues. Conclusion Our study provides the first evaluation of the clinical outcomes of a large sample with ABCR carrier couples undergoing the MicroSeq-PGT technique and reveals its powerful ability to distinguish between carrier and non-carrier balanced embryos.

scholarly journals Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 461
Author(s):  
Yusra Alyafee ◽  
Qamre Alam ◽  
Abeer Al Tuwaijri ◽  
Muhammad Umair ◽  
Shahad Haddad ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Embryo Transfer ◽  
Successful Implementation ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Reliable Technique ◽  
Generation Sequencing

Recently, high-throughput next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies techniques came into use. This technique is essential for successful embryo transfer and accomplishing pregnancy, thus reducing the time and cost of additional cycles. In this study, we describe our first experience in introducing an NGS-based preimplantation genetic testing for aneuploidy (PGT-A) service using next-generation sequencing in King Abdulaziz Medical City located in Riyadh, Saudi Arabia. Our main goal was to report the successful implementation of this new technology in clinical practice and highlight the factors that may affect the results. In total, 200 blastomere biopsies were obtained from 36 in vitro fertilization (IVF) cycles from Saudi couples suffering from prolonged infertility or recurrent embryo transfer failure. NGS-based PGT-A was performed in all embryos. The results were analyzed in five age groups, showing that aneuploidy rates increased with maternal age. Moreover, the results also showed that complex abnormal embryos with (2–5) aneuploidy are the most common type of embryos. Additionally, our data showed that chromosome 16-related abnormality was the most frequent abnormality detected among all reported abnormalities. In conclusion, our study suggests that NGS-based PGT-A is an applicable and reliable technique for routine-based embryo screening, especially for couples suffering from recurrent miscarriages or multiple embryo transfer failures.

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