In this retrospective study, the utility of preimplantation genetic screening (PGS) in patients with advanced maternal age is evaluated. The patient population consisted of women aged 38-44years and included in a regular IVF programme with or without PGS analysis. Transfer rate, ongoing implantation rate and ongoing pregnancy rate were the main outcome parameters measured. A trend of better ongoing pregnancy rate per oocyte retrieval was observed in patients aged 38 and 39years in the non-PGS group when compared with PGS groups, but better ongoing pregnancy rate per oocyte retrieval was observed in patients 41-44years old in the PGS group. When patients with a low ovarian response accumulated oocytes in several stimulation cycles, clinical outcomes were comparable to those of normal-responder patients. These results show that, although PGS does not benefit patients less than 40years of age, reproductive success increases more than two-fold in patients over 40years, especially in patients with more than six metaphase II oocytes, as a result of a good ovarian response or gamete accumulation, suggesting a redefinition of advanced maternal age as indication for PGS. In this retrospective study, the utility of preimplantation genetic screening (PGS) in patients with advanced maternal age is evaluated. Patient population consisted of women aged 38-44 years and included in a regular IVF programme with or without PGS analysis. Transfer rate, ongoing implantation rate and ongoing pregnancy rate were the main outcome parameters measured. A trend of better ongoing pregnancy rate per ovarian stimulation cycle was observed in patients aged 38-39 years in the non-PGS group when compared with PGS groups, but better ongoing implantation rate was observed in patients aged 41-44 years old in the PGS group. When patients with a low ovarian response (low number of oocytes available for the IVF cycle) accumulated oocytes in several stimulation cycles, their reproductive possibilities were comparable to those of normal-responder patients. These results show that, although PGS does not benefit patients less than 40 years of age, reproductive success increases more than 2-fold in patients over 40 years, especially in patients with more than six metaphase II oocytes, as a result of a good ovarian response or gamete accumulation, suggesting a redefinition of advanced maternal age as indication for PGS.
The objective of this study was to identify specific subgroups of recurrent pregnancy loss (RPL) patients of unknown aetiology in whom the selection of chromosomally normal embryos for transfer improves reproductive outcome in preimplantation genetic screening (PGS). A total of 428 PGS cycles were included and chromosomes 13, 15, 16, 18, 21, 22, X and Y were evaluated. In RPL patients < or =37 years, a lower incidence of chromosomal abnormalities (P = 0.0004) and miscarriages (P = 0.0283) was observed, and there were significantly higher pregnancy (P < 0.0384) and implantation (P < 0.0434) rates than in patients >37 years. In the former subset, results showed: (i) significantly higher implantation rates (P = 0.0411) in couples that had experienced a previous aneuploid miscarriage; (ii) similar aneuploidy, pregnancy and implantation rates in couples suffering previous miscarriages during fertility treatments and in those with previous spontaneous pregnancies; (iii) no miscarriages after PGS in couples in whom a fluorescence in-situ hybridization assay showed the male partner's sperm to be abnormal; and (iv) lower implantation rates in couples with > or =5 previous miscarriages, associated with a lower percentage of chromosomally abnormal embryos. It is concluded that PGS is to be strongly recommended when RPL is associated with miscarriages during infertility treatments, chromosomopathy in a previous miscarriage, up to five previous miscarriages and a high incidence of chromosomal abnormalities in spermatozoa.
Our data indicate that additional hybridization rounds improve the accuracy of the diagnosis, increasing the number of chromosomally normal embryos available for transfer. Re-hybridization with additional probes as a standard approach to PGS could enhance the potential benefits of the technique.
Aneuploidy in preimplantation embryos is a major cause of human reproductive failure. Unlike uniformly aneuploid embryos, embryos diagnosed as diploid-aneuploid mosaics after preimplantation genetic testing for aneuploidy (PGT-A) can develop into healthy infants. However, the reason why these embryos achieve full reproductive competence needs further research. Current RNA sequencing techniques allow for the investigation of the human preimplantation transcriptome, providing new insights into the molecular mechanisms of embryo development. In this prospective study, using euploid embryo gene expression as a control, we compared the transcriptome profiles of inner cell mass and trophectoderm samples from blastocysts with different levels of chromosomal mosaicism. A total of 25 samples were analyzed from 14 blastocysts with previous PGT-A diagnosis, including five low-level mosaic embryos and four high-level mosaic embryos. Global gene expression profiles visualized in cluster heatmaps were correlated with the original PGT-A diagnosis. In addition, gene expression distance based on the number of differentially expressed genes increased with the mosaic level, compared to euploid controls. Pathways involving apoptosis, mitosis, protein degradation, metabolism, and mitochondrial energy production were among the most deregulated within mosaic embryos. Retrospective analysis of the duration of blastomere cell cycles in mosaic embryos revealed several mitotic delays compared to euploid controls, providing additional evidence of the mosaic status. Overall, these findings suggest that embryos with mosaic results are not simply a misdiagnosis by-product, but may also have a genuine molecular identity that is compatible with their reproductive potential.
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