panels. WES reveals that the variant frequency of the most common genes (top 15 genes) constitute only 34% of all variants detected.CONCLUSIONS: Carrier screening is an essential public health requirement, especially in countries where high consanguineous marriage is observed. Since commercially available panethnic panels do not fully meet the needs of geographical regions, no panel can be designated as universal. This hypothesis is supported by the comparison results revealing that 360 genes in Panel 1 do not overlap with any other group. The most important reason for this is high consanguinity in our country underlying rare genetic variants and it is noteworthy that 65% of the families applying for PGT-M are carriers of rare diseases. This is also highlighted in the outcome of the study, where variant frequency of the most common genes (top 15 genes) in WES cases constitutes only 34% of all variants detected. Furthermore, since mutation databases are not well-established in our population, especially in rare diseases, variants of uncertain significance (VUS) are frequently encountered. Therefore, these kind of studies constitute an important source of information for the creation of community-specific panels.
OBJECTIVE:The embryonic morphology is an important factor while evaluating embryonic potential. With the advances in the field of genetic analysis techniques, it is known that the decision to transfer an euploid embryo is related to higher pregnancy rates. However, genetic evaluation is an invasive exam, which does not occur with the morphology evaluation, which can be considered an advantage. Nonetheless, it is not yet known whether it is possible to associate embryonic quality with euploidy, and the literature are very controversial. Because of this, we aimed to evaluate the effects of embryo quality on the aneuploidy.DESIGN: Prospective study. MATERIALS AND METHODS: Data from 1037 blastocysts were collected that were cultivated in continuous culture medium in incubators at 37oC, CO 2 8%, and O 2 5%. The blastocyst morphology was classified by SART criteria and the best quality embryos (3-6; A and B) were denominated top-quality embryos. The blastocysts were biopsied, and the cells were sending to PGT-A, subsequently being cryopreserved. According to the results, the embryos were separated into three groups: >75% aneuploidy (G1), between 74,9%-24,9% aneuploidy (G2), and <25% aneuploidy (G3). 320 couples undergoing in vitro fertilization in 2019 agreed to participate in the study. The female partners underwent controlled ovarian stimulation and had their oocytes recovered and subsequently inseminated. The fertilized embryos were cultivated in the group with the CSCM (Irvine) culture medium. In the stage of the blastocyst, they were biopsied and the preimplantation genetic diagnosis was performed by next-generation sequencing. Besides that, the embryos were evaluated for their quality through the morphological assessment.RESULTS: Considering the morphologic variables, the G3 group (<25% aneuploidy) presented a significant (p<0.01) higher rate of top-quality embryos (55.1%AE39.1%) when compared with the G1 group (35.9%AE 41.9%). No significant difference was found when compared to the G3 group with the G2 group (46.4%AE40.0%), and the G2 group with the G1 group, concerning the rate of top-quality embryos. These results show that embryos with better morphology assessment end up being euploid, which would allow the association of morphology evaluation with the embryo genetics status. However, this study has the same weakness that other blastocysts morphological studies, the evaluation always can be influenced by the observer, in addition to the possible loss of events due to time of analysis.CONCLUSIONS: Because of this, further studies are necessary to establish whether it is safe to predict ploidy through embryo morphological analysis, also with the support of new technologies such as time-lapse. However, this study shows the relation between blastocyst aneuploidy and embryo quality on day 5/6. Our results are close to the routine of the vast majority of laboratories in the world, which do not have the resources of time-lapse technology, and It is possible to think of a joint strategy that allows the association o...
Study question Are patients with a low ovarian response more likely to develop embryos with chromosomal alterations? Summary answer Low ovarian response has an impact on embryonic development and the genetic normality rate of embryos. What is known already Low ovarian response is characterized by a reduction in the follicular response resulting in a reduced number of eggs. This fact has an impact on the outcome of assisted reproduction treatments. Therefore, understanding the genetic behavior of the embryos of these patients is still a great challenge for both the clinic and the in vitro fertilization laboratory, because, with a better understanding of the embryo's genetic segregation process, it will be possible to apply more assertive behaviors in the human reproduction routine. Study design, size, duration This retrospective cross-sectional study included 73 patients up to 35 years old, splitted into two groups. The poor ovarian responder group (n = 32) and the controls (n = 41). The study group included patients with poor ovarian response, less than six MII oocytes after ovarian punction. The control group was selected according to the following inclusion criteria: the presence of tubal factor unexplained infertility, or adenomyosis. The data were collected between January 2019 and December 2021. Participants/materials, setting, methods All patients included in the study (n = 73) underwent the same assisted reproduction treatment with embryos transferred after biopsy and PGT-A. The T-Students test was applied to compare numerical variables and the q-square test for categorical variables. All the analysis was performed in SPSS software (V26). Patients who had other factors associated with poor ovarian response were excluded. Main results and the role of chance In the comparison between the groups, the differences in the levels of AMH, progesterone, and the number of oocytes in MII were observed, as expected for the two groups (p < 0.05). However, the control group had a higher rate of chromosomally normal embryos when compared to patients with a low ovarian response (60.9%± 30.1 vs 37.6%± 39.7, p = 0.0057) respectively. The other variables such as age, FSH, LH, BMI, estradiol, fertilization rate, rate of blastocyst formation, and quality of blastocysts did not show statistically significant differences. Limitations, reasons for caution Preliminary results with a low number of patients. Wider implications of the findings Patients with a low ovarian response may have lower rates of embryonic chromosomal normality, this fact is important for the indication of genetic testing for these couples. Future prospective studies should be carried out with a larger number of patients to understand the mechanisms that cause genetic alterations in embryos. Trial registration number non applicable
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