scholarly journals Healthy Genetically Normal Live-Birth After Mosaic Chromosome 5 Embryo Transfer: A Case Report

2021 ◽  
pp. 1-6
Author(s):  
Tam M. Luu ◽  
Nhung C. Nguyen ◽  
Cam T. Tran ◽  
Anh H. Le ◽  
Bao G. Huynh ◽  
...  

Embryonic mosaicism is defined as two or more distinct cell lines within an embryo, which is originally developed from a zygote. Although the potential of mosaic embryos still remain unclear, recent reports have proved that mosaic embryo transfer can achieve healthy live-births. Up to now, there is no report of a live-birth having mosaic trisomy of full chromosome 5 following in-vitro fertilization (IVF). Our case is the first case proving that the transfer of medium-mosaicism embryo can result in a healthy live-birth. The couple are both carriers of balanced reciprocal translocations (46,XX,t(2;8)(p23;q24.3) and 46,XY,t(12;16)(q13.2;q23)). They had three IVF cycles combined with PGT-SR (Preimplantation Genetic Testing for Structural Rearrangement). A total of 18 blastocysts were biopsied and no euploid embryo was found. After the conselling, the patients chose to transfer a 40% mosaic trisomy chromosome 5 embryo. The follow-up pregnancy including prenatal diagnosis, amniocentesis and peripheral blood chromosome analysis of the newborn revealed no trisomy chromosome 5.

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Norbert Gleicher ◽  
Lyka Mochizuki ◽  
David H. Barad

AbstractUntil 2010, the National Assisted Reproductive Technology Surveillance System (NASS) report, published annually by the Center for Disease Control and Prevention (CDC), demonstrated almost constantly improving live birth rates following fresh non-donor (fnd) in vitro fertilization (IVF) cycles. Almost unnoticed by profession and public, by 2016 they, however, reached lows not seen since 1996–1997. We here attempted to understand underlying causes for this decline. This study used publicly available IVF outcome data, reported by the CDC annually under Congressional mandate, involving over 90% of U.S. IVF centers and over 95% of U.S. IVF cycles. Years 2005, 2010, 2015 and 2016 served as index years, representing respectively, 27,047, 30,425, 21,771 and 19,137 live births in fnd IVF cycles. Concomitantly, the study associated timelines for introduction of new add-ons to IVF practice with changes in outcomes of fnd IVF cycles. Median female age remained at 36.0 years during the study period and center participation was surprisingly stable, thereby confirming reasonable phenotype stability. Main outcome measures were associations of specific IVF practice changes with declines in live IVF birth rates. Time associations were observed with increased utilization of “all-freeze” cycles (embryo banking), mild ovarian stimulation protocols, preimplantation genetic testing for aneuploidy (PGT-A) and increasing utilization of elective single embryo transfer (eSET). Among all add-ons, PGT-A, likely, affected fndIVF most profoundly. Though associations cannot denote causation, they can be hypothesis-generating. Here presented time-associations are compelling, though some of observed pregnancy and live birth loss may have been compensated by increases in frozen-thawed cycles and consequential pregnancies and live births not shown here. Pregnancies in frozen-thawed cycles, however, represent additional treatment cycles, time delays and additional costs. IVF live birth rates not seen since 1996–1997, and a likely continuous downward trend in U.S. IVF outcomes, therefore, mandate a reversal of current outcome trends, whatever ultimately the causes.


2019 ◽  
Vol 58 (4) ◽  
pp. 173-178
Author(s):  
Milan Reljič ◽  
Vida Gavrić Lovrec

Abstract Background The aim of the study was to determine predictive factors for live birth after in vitro fertilization with autologous oocytes in women ≥40 years of age. Methods Authors conducted a retrospective analysis of in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) cycles performed at the Department of Reproductive Medicine and Gynecologic Endocrinology, University Medical Centre Maribor, Slovenia between January 2006 and December 2015 in women aged 40 or more. The characteristics of patients and cycles were compared regarding live birth as the final outcome. Results A total of 1920 IVF/ICSI cycles with egg retrieval in women ≥40 years of age were performed leading to 1591 embryo transfers. The live birth rate per embryo transfer was 17.3% at 40, 11.6% at 41, 8.2% at 42, 7.9% at 43, 1.9% at 44 and 0.0% at ≥45 years of age. The multivariate logistic regression model showed that besides women’s age (OR 0.66, 95% CI: 0.55–0.78), the number of previous cycles (OR 0.88, 95% CI: 0.82–0.95), number of good quality embryos on day 2 (OR 1.19, 95% CI: 1.05-1.36), number of embryos transferred (OR 1.57, 95% CI: 1.19–2.07) and day 5 embryo transfer (OR 2.21, 95% CI: 1.37–3.55) were also independent prognostic factors for live birth. Conclusions The chance of in vitro fertilization success in women ≥40 years of age should not be estimated only on the woman’s age, but also on other predictive factors: number of previous cycles, number of good quality embryos on day 2, number of transferred embryos and blastocyst embry transfer.


2021 ◽  
Vol 2 (2) ◽  
pp. 52-63
Author(s):  
Ana Jeremić ◽  
Dragana Vuković ◽  
Srna Subanović ◽  
Jovana Broćić ◽  
Biljana Macanović

The application of preimplantation genetic testing (PGT) began in the late 1980s. Pre-implantation genetic testing, as the earliest possible method of prenatal diagnosis, enables the selection of embryos with a normal karyotype for embryo transfer. The use of preimplantation genetic testing has proven to be a useful method in the following three groups of inherited diseases: monogenic disorders (single gene defects), trinucleotide repeat disorders, and chromosomal abnormalities. The success rate of in vitro fertilization (IVF) has increased significantly since the introduction of PGT into clinical practice. This paper presents a literature review with the aim of clearly determining the role of PGT in embryo selection before embryo transfer, as well as the role of this type of testing in increasing the success rate of IVF. One of the goals of the paper is also to review the development of molecular genetic methods that are currently, or have once been, in routine use when performing PGT. The current literature is an indicator of the development and progress of molecular genetics techniques applied in PGT. At the same time, it provides an opportunity and an incentive for further extensive research that will lead to the improvement of preimplantation genetic testing and thus increase the success rate of in vitro fertilization.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
L H Sordia-Hernandez ◽  
F A Morale. Martinez ◽  
A Flore. Rodriguez ◽  
F Diaz-Gonzale. Colmenero ◽  
P Leyv Camacho ◽  
...  

Abstract Study question Does the selection of blastocysts for single embryo transfer, through the diagnosis of aneuploidy, improves the live birth rate in patients undergoing in vitro fertilization? Summary answer There seems to be no statistical difference in live birth rates between embryos with preimplantational genetic diagnosis (PGD) and those without. What is known already: Initial reports indicate that reproductive results improve after the selection of embryos to be transfer after performing a biopsy of the blastomeres, or trophectoderm cells, with the subsequent comprehensive analysis of the chromosomes. However, these results are now questioned. Reports in the literature are contrasting, so the real utility of selecting all embryos through comprehensive chromosome analysis calls for a more careful analysis that compares the risks, costs, and benefits of these techniques and their actual utility in reproductive results of patients treated with in vitro fertilization. Specifically results related to live birth rate. Study design, size, duration A systematic review of prospective studies evaluating live birth rate after embryo transfer of embryos selected by blastocyst biopsy for aneuploidy analysis compared with reproductive outcomes in embryo transfers of embryos selected morphologically, without biopsy nor screening for aneuploidies. Participants/materials, setting, methods A literature search was performed in PubMed, EmBase, and the Cochrane library (from January 2000 to december 2019). A cumulative meta-analysis and evaluation of heterogeneity was performed for the clinical pregnancy rate. The quality of the included studies was assessed using Cochrane’s Risk of Bias tool and ROBINS I for observational studies Main results and the role of chance Seven studies were included, three were randomized controlled trials and four were non-randomized studies of intervention (NRSI). The included studies were published between 2013 and 2019. For the preimplantational genetic diagnosis, three studies used array comparative genomic hybridization, three studies used next generation sequencing and only one study used qPCR. A total of 1638 patients were included, only two studies excluded patients with advanced maternal age (>35 years), two studies studied patients with recurrent implantation failure and three studies patients with recurrent pregnancy loss. Regarding the assisted reproduction techniques (ART), only studies where embryos where biopsied after day five for the genetic diagnosis where considered, most used ICSI and performed frozen-thawed transfer of up to two embryos, only one study allowed patients to be transferred with more than two embryos per cycle. Reproductive outcomes (live birth rate, miscarriage rate, clinical pregnancy) were extracted considering the events per embryo transfer and calculating the pooled odds ratios (OR) with 95% confidence intervals (95%CI) as our main outcome, sensitivity analyses will be performed using the events per cycles to assess the robustness of the effect estimate. Preliminary meta-analyses resulted in a pooled OR of 1.45 (95%CI 0.24–8.78) for NRSI and 1.34 (95%CI 0.85–2.11) for RCT. Limitations, reasons for caution The main limitation was the quantity of studies with acceptable methodology. This generated heterogeneity, hindering the evaluation of the true impact of PGD in ART outcomes. The use of events per embryo transfer as a main outcome could bias the results favoring PGD as less embryos are usually transferred. Wider implications of the findings: Our results show that there are too few studies with adequate methodology to generate a conclusion about the true benefit of PGD. However, a slight tendency favoring the reproductive outcomes of PGD was found. Trial registration number PROSPERO CRD42020198866


2020 ◽  
Vol 8 (B) ◽  
pp. 160-165
Author(s):  
Snezhana Stojkovska ◽  
Gligor Dimitrov ◽  
Jane Stojkovski ◽  
Stefan Saltirovski ◽  
Makuli Hadzi-Lega

BACKGROUND: It is estimated that 30–70% of patients who undergo treatment for infertility are afflicted with endometriosis. AIM: The objectives of this study are to evaluate the impact of laparoscopic treated endometrioma compared to unexplained subfertility on the live birth rate in women undergoing in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI). METHODS: This randomized prospective study included 120 women who contacted the department of IVF in the period from 2010 to 2015. Women were divided into two groups according to the findings obtained by laparoscopy. The treated endometrioma group (n = 60) with unilateral ovarian endometriomas and the non-endometriosis group (n = 60) with unexplained infertility undergoing the first cycle of IVF-embryo transfer (IVF-ET) were included in the study. In all participants, ICSI was used and all had fresh embryo transfer per cycle. The primary outcome was to live birth. RESULTS: Our results demonstrated that clinical pregnancy rates (p = 0.54) and live birth rate (p = 0.63) are similar. The preservation of a good ovarian response to stimulation by gonadotropins after laparoscopic ovarian cystectomy was presented. Laparoscopic cystectomy is followed by good IVF/ICSI outcome into the level expected in women with unexplained subfertility. CONCLUSION: Therefore, operative treatment is justified by not altering the live birth rate. Additional study is needed to be considered cystectomy before IVF as an effective approach for managing endometriosis-associated infertility.


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.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Han-Chih Hsieh ◽  
Chun-I Lee ◽  
En-Yu Lai ◽  
Jia-Ying Su ◽  
Yi-Ting Huang ◽  
...  

Abstract Background For women undergoing in vitro fertilization (IVF), the clinical benefit of embryo transfer at the blastocyst stage (Day 5) versus cleavage stage (Day 3) remains controversial. The purpose of this study is to compare the implantation rate, clinical pregnancy rate and odds of live birth of Day 3 and Day 5 embryo transfer, and more importantly, to address the issue that patients were chosen to receive either transfer protocol due to their underlying clinical characteristics, i.e., confounding by indication. Methods We conducted a retrospective cohort study of 9,090 IVF cycles collected by Lee Women’s Hospital in Taichung, Taiwan from 1998 to 2014. We utilized the method of propensity score matching to mimic a randomized controlled trial (RCT) where each patient with Day 5 transfer was matched by another patient with Day 3 transfer with respect to other clinical characteristics. Implantation rate, clinical pregnancy rate, and odds of live birth were compared for women underwent Day 5 transfer and Day 3 transfer to estimate the causal effects. We further investigated the causal effects in subgroups by stratifying age and anti-Mullerian hormone (AMH). Results Our analyses uncovered an evidence of a significant difference in implantation rate (p=0.04) favoring Day 5 transfer, and showed that Day 3 and Day 5 transfers made no difference in both odds of live birth (p=0.27) and clinical pregnancy rate (p=0.11). With the increase of gestational age, the trend toward non-significance of embryo transfer day in our result appeared to be consistent for subgroups stratified by age and AMH, while all analyses stratified by age and AMH were not statistically significant. Conclusions We conclude that for women without strong indications for Day 3 or Day 5 transfer, there is a small significant difference in implantation rate in favor of Day 5 transfer. However, the two protocols have indistinguishable outcomes on odds of live birth and clinical pregnancy rate.


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