简介：AbstractObjective:The objective of this study is to study whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcomes of infertile patients with repeated implantation failure (RIF) undergoing frozen-thawed embryo transfer.Methods:This is a retrospective analysis of clinical pregnancy, live birth, miscarriage rates, and obstetric and perinatal outcomes of women with RIF with or without PGT-A. Statistical analyses of categorical data were performed using propensity score matching (PSM), χ2 test, and Student’s t test.Results:We enrolled 466 patients with RIF, of which, 209 were in the RIF-PGT-A group. The rate of euploid blastocysts was significantly associated with age and day 5 or 6 blastocysts. There were significant differences between the RIF-PGT-A group and the RIF-non-PGT-A group across several parameters. After PSM, positive serum human chorionic gonadotropin (56.9% and 33.9%, P<0.01), clinical pregnancy (49.5% and 31.2%, P<0.01), live birth (43.1% and 25.7%, P<0.01), and fetal heart rates (50.0% and 29.8%, P<0.01) per transfer were significantly higher in the RIF-PGT-A group.Conclusion:Elective single-embryo transfer PGT-A can minimize the risk of obstetric and perinatal outcomes, especially fetal body weight, in women with RIF. Additionally, PGT-A can significantly improve pregnancy and live birth rates.

简介：AbstractThere is increasing evidence that cell-free DNA (cfDNA) in spent culture media (SCM) can be amplified for genetic testing. Therefore, this paper reviews the characteristics of cfDNA, including its fragment size, amount, origin, as well as some factors affecting the success rate of its amplification, together to provide researchers with a more comprehensive perspective on embryonic cfDNA. The origin of cfDNA in SCM is complicated and poses challenges to the interpretation of genetic test results. Advanced molecular techniques should distinguish between embryonic and contaminated DNA to maximize the success rate of amplification and analysis. Recent data showed that the type of culture medium, assisted hatching or not, the type of amplification kit, and fresh or thawed embryos were not related to the success rate of amplification, but the length of culture time might affect the success rate. The longer culture time, the more cfDNA is available in the SCM. Then we focused on the concordance between trophectoderm (TE), inner cell mass, whole embryo, and embryonic cfDNA. Despite successful amplification, the concordance between TE and embryonic cfDNA was low. In summary, non-invasive genetic testing using SCM could represent a major advance in future single embryo selection, however, contamination and timing for media collection are key factors affecting the results, and current non-invasive cfDNA testing should not be directly applied to clinical practice. Further research is needed to improve the methods used for testing techniques and genetic analysis to achieve greater accuracy and trace its origins before it can be used in the clinics.

简介：AbstractObjective:This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure.Methods:Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University. Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells.Results:Samples from 12 couples with total fertilization failure or poor fertilization (fertilization rate <20%) were subjected to whole-exome sequencing, and a novel homozygous protein-truncating mutation (c. 1101dupC, p. S368Qfs*5) in ACTL7A was identified in a patient with recurrent poor fertilization. The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells.Conclusions:Our findings expand the mutational and phenotypic spectrum of ACTL7A, thus providing a potential diagnostic marker for fertilization failure due to male factors.