In general population, it is estimated that 1/560 -1/1100 of the individuals are carriers of a balanced structural alteration and, in general, do not present an abnormal phenotype. For patients who have balanced rearrangements, a family planning alternative is to perform an In Vitro Fertilization (IVF) cycle with the embryonic analysis by Preimplantation Genetic Testing for Chromosomal Structural Rearrangements (PGT-SR). This test aims to reduce the time to obtain a healthy chromosomally pregnancy, to minimize the risk of miscarriage and a live birth with a chromosomopathy. The present work reports a case in which the couple had a history of implantation failure and biochemical pregnancy. They had not performed the karyotype exam to verify the parents' chromosomal content. After two embryo transfers without achieving pregnancy, the couple was directed to the Preimplantation Genetic Testing for Aneuploidies (PGT-A). The result presented in PGT-A in the couple's first cycle using the embryo selection technique showed recurrent segmental aneuploidies the trophectoderm biopsies. The couple was given genetic counselling, and they decided to investigate their karyotype, which showed a balanced chromosomal rearrangement in one of the parents. With this investigation and genetic counselling, it was possible to apply the correct embryonic analysis strategy, which contributed to a healthy pregnancy and birth with a living child.
The role of the endometrium in the pathogenesis of endometriosis has assumed prominence. Abnormality of gene and protein expression, apoptosis and changes in cell cycle have been extensively studied in endometriosis. We evaluated the cell cycle genes expression on primary stromal endometrial cells (EC) isolated from eutopic endometrium in two different moments: before and after deep infiltrating endometriosis (DIE) surgical treatment. We analysed five ECs from healthy patients (group control) and 9 from women with diagnosis of DIE. Were identified 7 cell cycle genes (p53, TFDP1, TFDP2, KPNA2, RB1, RBL2, SERTAD1) differentially expressed between pre, post-operative and controls. The p53 and KPNA2 genes were downregulated 3.34 fold (p = 0.006) and 2.62, (p = 0.042), respectively, in the endometrium of DIE compared to control. Both were upregulated (p53 - Fold 2.22, p = 0.157; KPNA2 - Fold 4.36, p = 0.017) in the post-operative DIE group in comparison to pre-operative one. Also, the RB1 gene was downregulated 9.36 fold (p = 0.029) in the DIE-post group in comparison to DIE-pre group, having no difference between DIE-pre and control group (p = 0.311). The proteins coded by these genes have association between each other, indicating that the surgical treatment could change the cell cycle regulation in the endometrium of women with endometriosis and that the changes remain after the cell isolation from the tissue.
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