Clinical pregnancy following preimplantation genetic testing for branchi-oto-renal syndrome

2013 ◽  
Vol 100 (3) ◽  
pp. S205
Author(s):  
D. Abdo ◽  
A. Mania ◽  
M. Jansa Perez ◽  
G. Trew ◽  
S. Jaroudi ◽  
...  
2021 ◽  
Vol 12 ◽  
Author(s):  
Yinghui Ye ◽  
Jieliang Ma ◽  
Long Cui ◽  
Sijia Lu ◽  
Fan Jin

Nowadays, most of the preimplantation genetic testing (PGT) is performed with a strategy of comprehensive chromosome screening and trophectoderm biopsy. Nevertheless, patients with ovarian insufficiency may not have competent blastocysts. In the present study, we aimed to establish the value of multiple annealing and looping-based amplification cycle (MALBAC)-based next-generation sequencing (NGS) for PGT in day-3 embryos. A total of 94.3% (1168/1239) of embryos yielded informative results, and the overall embryo euploid rate was 21.9% (256/1168). Overall, 225 embryos were transferred in 169 cycles with a clinical pregnancy rate of 49.1% (83/169). The live birth and implantation rates were 47.3% (80/169) and 44.4% (100/225), respectively. Double embryos transfer showed higher clinical pregnancy and live birth rates compared with single embryo transfer, but the implantation rates were similar (44.2% vs. 44.6%, P > 0.05). The euploid rate for reciprocal translocations (16.1%) was significantly lower than that for Robertsonian translocations (28.0%, P < 0.01) and inversions (28.0%, P < 0.01). However, higher percentages of embryos with de novo abnormalities were observed with Robertsonian translocations (23.3%, P < 0.01) and inversions (30.5%, P < 0.01) than with reciprocal translocations (11.6%). We demonstrated that NGS for PGT on day-3 embryos is an effective clinical application, particularly for patients with a diminished ovarian reserve and limited embryos.


2020 ◽  
Vol 35 (10) ◽  
pp. 2356-2364
Author(s):  
Miriam J Haviland ◽  
Lauren A Murphy ◽  
Anna M Modest ◽  
Matthew P Fox ◽  
Lauren A Wise ◽  
...  

Abstract STUDY QUESTION Does preimplantation genetic testing for aneuploidy (PGT-A) increase the likelihood of live birth among women undergoing autologous IVF who have fertilized embryos? SUMMARY ANSWER PGT-A is associated with a greater probability of live birth among women 35 years old and older who are undergoing IVF. WHAT IS KNOWN ALREADY Previous studies evaluating the association between PGT-A and the incidence of live birth may be prone to confounding by indication, as women whose embryos undergo PGT-A may have a lower probability of live birth due to other factors associated with their increased risk of aneuploidy (e.g. advancing age, history of miscarriage). Propensity score matching can reduce bias where strong confounding by indication is expected. STUDY DESIGN, SIZE, DURATION We conducted a retrospective cohort study utilizing data from women who underwent autologous IVF treatment, had their first oocyte retrieval at our institution from 1 January 2011 through 31 October 2017 and had fertilized embryos from this retrieval. If a woman elected to use PGT-A, all good quality embryos (defined as an embryo between Stages 3 and 6 with Grade A or B inner or outer cell mass) were tested. We only evaluated cycles associated with the first oocyte retrieval in this analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS Our analytic cohort included 8227 women. We used multivariable logistic regression to calculate a propensity score for PGT-A based on relevant demographic and clinical factors available to the IVF provider at the time of PGT-A or embryo transfer. We used the propensity score to match women who did and did not utilize PGT-A in a 1:1 ratio. We then used log-binomial regression to compare the cumulative incidence of embryo transfer, clinical pregnancy, miscarriage and live birth between women who did and did not utilize PGT-A. Because the risk of aneuploidy increases with age, we repeated these analyses among women <35, 35–37 and ≥38 years old based on the Society for Assisted Reproductive Technology’s standards. MAIN RESULTS AND THE ROLE OF CHANCE Overall, women with fertilized embryos who used PGT-A were significantly less likely to have an embryo transfer (risk ratios (RR): 0.78; 95% CI: 0.73, 0.82) but were more likely to have a cycle that resulted in a clinical pregnancy (RR: 1.15; 95% CI: 1.04, 1.28) and live birth (RR: 1.21; 95% CI: 1.08, 1.35) than women who did not use PGT-A. Among women aged ≥38 years, those who used PGT-A were 67% (RR: 1.67; 95% CI: 1.31, 2.13) more likely to have a live birth than women who did not use PGT-A. Among women aged 35–37 years, those who used PGT-A were also more likely to have a live birth (RR: 1.27; 95% CI: 1.05, 1.54) than women who did not use PGT-A. In contrast, women <35 years old who used PGT-A were as likely to have a live birth (RR: 0.91; 95% CI: 0.78, 1.06) as women <35 years old who did not use PGT-A. LIMITATIONS, REASONS FOR CAUTION We were unable to abstract several potential confounding variables from patients’ records (e.g. anti-Mullerian hormone levels and prior IVF treatment), which may have resulted in residual confounding. Additionally, by restricting our analyses to cycles associated with the first oocyte retrieval, we were unable to estimate the cumulative incidence of live birth over multiple oocyte retrieval cycles. WIDER IMPLICATIONS OF THE FINDINGS Women aged 35 years or older are likely to benefit from PGT-A. Larger studies might identify additional subgroups of women who might benefit from PGT-A. STUDY FUNDING/COMPETING INTEREST(S) No funding was received for this study. D.S. reports that he is a member of the Cooper Surgical Advisory Board. The other authors report no conflicts of interest. TRIAL REGISTRATION NUMBER N/A.


Zygote ◽  
2021 ◽  
pp. 1-6
Author(s):  
Shun Xiong ◽  
Jun Xia Liu ◽  
Dong Yun Liu ◽  
Jia Hong Zhu ◽  
Xiang Wei Hao ◽  
...  

Summary This study aimed to evaluate to what extent the different interval times between trophectoderm (TE) biopsy and vitrification influence the clinical outcomes in preimplantation genetic testing (PGT) cycles. Patients who underwent frozen embryo transfer (FET) after PGT between 2015 and 2019 were recruited. In total, 297 cycles with single day 5 euploid blastocyst transfer were included. These cycles were divided into three groups according to the interval times: <1 h group, 1–2 h group, and ≥2 h group. Blastocyst survival, clinical pregnancy, miscarriage, and ongoing pregnancy rates were compared. The results showed that, in PGT-SR cycles, survival rate in the ≥2 h group (96.72%) was significantly lower than in the <1 h group (100%, P = 0.047). The clinical pregnancy rate in the ≥2 h group was 55.93%, significantly lower than in the <1 h group (74.26%, P = 0.017). The ongoing pregnancy rates in the 1–2 h group and the ≥2 h group were 48.28% and 47.46%, respectively, significantly lower than that in the <1 h group (67.33%, P < 0.05). The miscarriage rate in the 1–2 h group was 18.42%, significantly higher than that in the <1 h group (5.33%, P = 0.027). In PGT-A cycles, the clinical pregnancy and ongoing pregnancy rates in the <1 h group were 67.44% and 53.49%, respectively, higher than that in the 1–2 h group (52.94%, 47.06%, P > 0.05) and the ≥2 h group (52.63%, 36.84%, P > 0.05). In conclusion, vitrification of blastocysts beyond 1 h after biopsy significantly influences embryo survival and clinical outcomes and is therefore not recommended.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
J Franco ◽  
E Carrill. d. Alborno. Riaza ◽  
A Vill Milla ◽  
R Ga. fernande. -vegue ◽  
F Soto borras ◽  
...  

Abstract Study question Can non-invasive preimplantation genetic testing of aneuploidies (niPGT-A) improve the clinical outcome in IVF patients after proper validation? Summary answer We demonstrate the usefulness of the embryonic cell-free DNA (cfDNA) in the blastocyst culture medium to select more objectively the blastocysts with higher implantation potential. What is known already One of the greatest challenges in IVF is accurately selecting viable embryos that are more likely to achieve healthy livebirths following embryo transfer. Trophectoderm (TE) biopsy and PGT-A provide a direct assessment of chromosome status and improve implantation and clinical pregnancy rates per transfer. A non-invasive alternative is to analyse embryonic cfDNA in the blastocyst culture medium. Previous studies have shown that cfDNA testing in culture medium of blastocysts on day 6 of development allows aneuploidy detection with high concordance rates compared to TE biopsy and inner cell mass (Rubio et al., 2020). Study design, size, duration Observational study of the clinical application of niPGT-A (July 2020-December 2020). The clinical application consisted in a first validation phase, comparing TE biopsies with cfDNA in the media of 28 blastocysts. And, in a second phase, niPGT-A was applied and the outcome of 13 single embryo transfers (SETs) compared to 13 PGT-A SETs and 130 IVF/ICSI SETs performed in a period of six months. In the three groups, women and donors age was ≤38 years. Participants/materials, setting, methods Embryos were cultured in a Geri incubator (Merck) up to day 4, and then individually cultured in 10µl drops of CCSS (Fujifilm) until day 6 in a bench-top K-system. At day 6, blastocysts were vitrified, and media collected in sterile PCR tubes after at least 40 hours in culture. After collection, media were immediately frozen and analyzed by NGS analysis in our reference laboratory (Igenomix, Spain). Deferred transfer was performed according to media results. Main results and the role of chance Before the first clinical cases, a validation of the protocol comparing the results of cfDNA with the TE biopsies of the same day–6 blastocyst was performed, and ploidy concordance rates were 87.5%. Similar results were found for niPGT-A and PGT-A in terms of aneuploidy results and in clinical outcomes. The percentages of informative results were 95% and 97% and the aneuploidy rates were 44% and 46%, for niPGT-A and PGT-A, respectively. Clinical pregnancy rates were in both groups of aneuploidy testing, 69.2%, with 8 ongoing pregnancies (61.5%) and 4 tested by prenatal screaning NACE. For untested embryos clinical pregnancy (57.7%) and ongoing pregnancy rates (48.5%) were lower than in the two groups of tested embryos (niPGT-A and PGT-A). In the niPGT-A cycles embryo transfer was performed according to media results and morphology. We did a secondary analysis of which blastocyst we would transfer, if only morphology is considered. We observed that if we only select the embryos by morphology, in 61.5% of the cases we would choose the same embryo than with niPGT-A, and in 30.4% of the cases we would transfer a blastocyst with an aneuploid medium. Limitations, reasons for caution Our results are encouraging but should be interpreted with caution due to the small sample size. Larger and randomized controlled trials are needed to verify and extend our findings in each group. Wider implications of the findings: We observed consistent results for niPGT-A compared to TE biopsies in our internal validation. These results endorse the clinical application of niPGT-A in the routine of the laboratory and can avoid the embryo manipulation also reducing the subjectivity when embryos are selected only by morphology. Trial registration number Sa–16552/19-EC:428


2021 ◽  
Author(s):  
xiliang wang ◽  
Yankun Wang ◽  
kaibo hou ◽  
dongmei hao ◽  
jinyan zhang ◽  
...  

Abstract BackgroundMicrodeletions of AZF are the most common factor causing male infertility except Klinefelter syndrome. AZF patients are able to father babies through intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF), and the ICSI embryos for IVF can be scored based on morphological criteria. However, the clinical pregnancy rate and the live birth rate are unsatisfactory.ResultsHere, we investigated the outcomes of using preimplantation genetic testing for aneuploidies (PGT-A) in families with AZFc microdeletions. A total of 26 intracytoplasmic sperm injection (ICSI) cycles were performed in 22 families, 25 ICSI cycles were performed, and 81 embryos underwent PGT-A. Among them, 48 were euploid embryos (23 females and 25 males), 30 were aneuploid embryos, and three embryos did not meet the quality control standards. Thirteen ICSI cycles with female euploid embryos and one ICSI cycle with male euploid embryos entered the stage of embryo implantation. Finally, the clinical pregnancy rate was 100% (14/14), and the live birth rate was 85.7% (12/14).ConclusionCompared with other published results, PGT-A increased the chance of fertility in AZFc microdeletion patients.


2021 ◽  
pp. 1-9
Author(s):  
Hongfang Liu ◽  
Bin Mao ◽  
Xiaojuan Xu ◽  
Lin Liu ◽  
Xiaoling Ma ◽  
...  

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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