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 Preimplantation Genetic Testing for Thalassemia Through Next- Generation Sequencing of Affected-embryos

2021 ◽  
Author(s):  
Zhanhui Ou ◽  
Yu Deng ◽  
Yunhao Liang ◽  
Zhiheng Chen ◽  
Ling Sun
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Birth Rate ◽  
Normal Karyotype ◽  
Live Birth Rate ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: To evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos. Methods: This study included data from 36 couples who underwent PGT for thalassemia without proband and relative pedigrees. NGS results were compared with prenatal diagnosis results.Results: Thirty-six couples (29 α-thalassemia and 7 β-thalassemia) underwent 41 PGT cycles (31 α-thalassemia and 10 β-thalassemia). All biopsied blastocysts received conclusive results from NGS analysis (100%, 217/217). One hundred and sixty (73.7%, 160/217) were determined to be unaffected by thalassemia. PGT-A (PGT for aneuploidy) results showed that 112 (70.0%, 112/160) were euploid. Thirty-four couples were transferred with a single blastocyst (53 frozen embryo transfer (FET) cycles). Thirty-two cycles resulted in clinical pregnancies, and the clinical pregnancy rate was 60.1% (32/53) per FET cycle. Twenty-two cycles (22 couples) resulted in 23 live births and the live birth rate was 43.4% (23/53, 3 cycles were ongoing pregnancy). All 25 cycles’ prenatal diagnosis results and/or thalassemia gene analysis after the delivery were concordant with the NGS-PGT results. Seven cycles were miscarried before 12 weeks’ gestation, and the abortion villus in four cycles showed a normal karyotype and thalassemia results consistent with the NGS-PGT results. Aborted fetus samples from 3 cycles were not available because the pregnancy was less than 5 weeks.Conclusion: NGS can be used to conduct PGT for thalassemia using affected embryos as a reference.Trial registration: Retrospectively registered.

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.

The effects of the day of trophectoderm biopsy and blastocyst grade on the clinical and neonatal outcomes of preimplantation genetic testing–frozen embryo transfer cycles

Zygote ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linjun Chen ◽  
Zhenyu Diao ◽  
Jie Wang ◽  
Zhipeng Xu ◽  
Ningyuan Zhang ◽  
...  
Keyword(s):  
Birth Weight ◽  
Genetic Testing ◽  
Embryo Transfer ◽  
Live Birth ◽  
Frozen Embryo Transfer ◽  
Neonatal Outcomes ◽  
Miscarriage Rate ◽  
Birth Rates ◽  
Preimplantation Genetic Testing ◽  
Live Birth Rates

Summary This study analyzed the effects of the day of trophectoderm (TE) biopsy and blastocyst grade on clinical and neonatal outcomes. The results showed that the implantation and live birth rates of day 5 (D5) TE biopsy were significantly higher compared with those of D6 TE biopsy. The miscarriage rate of the former was lower than that of the latter, but there was no statistically significant difference. Higher quality blastocysts can achieve better implantation and live birth rates. Among good quality blastocysts, the implantation and live birth rates of D5 and D6 TE biopsy were not significantly different. Among fair quality and poor quality blastocysts, the implantation and live birth rates of D5 TE biopsy were significantly higher compared with those of D6 TE biopsy. Neither blastocyst grade nor the day of TE biopsy significantly affected the miscarriage rate. Neonatal outcomes, including newborn sex, gestational age, preterm birth, birth weight and low birth weight in the D5 and D6 TE biopsies were not significantly different. Both blastocyst grade and the day of TE biopsy must be considered at the same time when performing preimplantation genetic testing–frozen embryo transfer.

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