Reproductive biomedicine online最新文献

Direct evidence from live cell imaging and single-cell sequencing of disaggregated cells that mitotic abnormalities continue to occur in the trophectoderm at the blastocyst stage, resulting in clones of aneuploid cells, has important implications for preimplantation genetic testing (PGT) for aneuploidies. Here we argue that, to improve accuracy and minimize the deselection of potentially viable embryos with only mitotic aneuploidies of unknown clinical significance, the use of methods that, up until now, have only been used for PGT for monogenic/single-gene defects could provide the answer. Genome-wide single-nucleotide polymorphism parental haplotyping (karyomapping) is a universal linkage-based method for tracking the inheritance of disease genes. However, the same method can be used for molecular karyotyping to identify meiotic trisomies and monosomies or segmental deletions by the presence of dual parental haplotypes, or absence of parental haplotypes, respectively. Combined with parental intensity analysis to detect mitotic aneuploidies with normal biparental inheritance, this allows meiotic and mitotic, whole and segmental chromosome aneuploidies to be identified. This provides the opportunity to prioritize the deselection of embryos with meiotic aneuploidies affecting the whole embryo while considering those with only mitotic aneuploidies for transfer, with appropriate genetic counselling.

Research question: Can artificial intelligence (AI) standardize embryo scoring, and help embryologists to identify embryos with the highest likelihood of pregnancy and live birth?

Design: Multicentre, retrospective, head-to-head analysis across six centres in five countries. An embryo selection algorithm (ESA) and 20 embryologists of varying seniority independently selected the implanting (i.e. 'best') embryo from 1681 pairs (1237 pairs with biochemical pregnancy; 444 pairs with live births), with each pair comprising one embryo with a positive outcome and one embryo with a negative outcome. Accuracy was computed for the ESA and for the embryologists; differences were assessed using McNemar's test.

Results: The accuracy of the ESA was 70.1%. The accuracy of individual embryologists ranged from 64.2% to 68.9% (mean value for embryologists 67.7%), and the accuracy of the expert committee (i.e. majority vote across the 20 embryologists) was 69.5%. McNemar's test indicated a significant advantage for the ESA compared with 14 of 20 embryologists, and the mean value for embryologists (P < 0.05), but no significant difference between the ESA and the remaining six embryologists or the expert committee.

Conclusions: The ESA achieved higher accuracy than most individual embryologists and the mean value for embryologists, supporting its potential as a standardized adjunct to expert judgement. Confirmation of effectiveness and generalizability requires adequately powered, prospective multicentre trials.

Recent advances in IVF have shifted the focus towards maximizing treatment efficacy and efficiency. Traditionally, IVF success has been evaluated on a cycle-by-cycle basis. Advancements such as individualized ovarian stimulation protocols, gonadotrophin-releasing hormone agonist triggers, cryopreservation techniques and embryo selection strategies, including preimplantation genetic testing for aneuploidies, have improved precision medicine in IVF, optimizing clinical outcomes. Despite these developments, certain patient groups - especially those with low ovarian response and/or advanced age - still face lower success rates per IVF cycle initiated. Considering the reproductive system's physiology, which often requires multiple attempts for success, and drawing from the experience of intrauterine insemination, a shift from a single-cycle focus to a multicycle strategy is now needed. A multicycle approach, adopting approaches such as oocyte/embryo accumulation from several stimulations or two consecutive stimulations (e.g. DuoStim), enables the advance planning of multiple attempts. It helps shorten time to pregnancy, reduces treatment discontinuation and offers support for patients facing setbacks. To be effective, this strategy must include personalized psychological counselling to manage emotional stress and prepare patients for possible failures, which are major causes of discontinuation. Evidence shows that well-informed, supported patients are more likely to persist in treatment, leading to higher cumulative success rates.