Search

Sindrome de Down (SD) é uma alteração genética e metabólica complexa atribuída à presença de três cópias do cromossomo 21. O cromossomo extra em 93% dos casos é de origem materna e é resultante de uma segregação anormal durante a meiose (não-disjunção). Com exceção da idade materna avançada, fatores de risco para a não-disjunção meiótica não estão bem estabelecidos. Um estudo preliminar sugeriu que o metabolismo anormal do folato e a mutação 677 (C->T) no gene da metilenotetrahidrofolato redutase (MTHFR) podem ser fatores de risco maternos para a SD. A freqüência das mutações MTHFR 677 (C->T) e 1.298 (A->C) foram avaliadas em 36 mães de crianças com SD e em 200 indivíduos-controle. Os resultados demonstraram que as mutações 677 (C->T) e 1.298 (A->C) são mais prevalentes entre mães de crianças com SD do que nos controles. A heterozigose das duas mutações foi a combinação mais freqüente. O resultado desse estudo inicial sugere que mutações no gene da MTHFR seriam um fator de risco para a SD.

The article discusses concerns about a recent study that examined the use of prednisone in patients with recurrent implantation failure (RIF) and highlights the ongoing controversy surrounding immunosuppressive therapies for reproductive failures, emphasizing the need for precise patient selection based on immune profile patterns and biomarkers.

Dear Editor Recently, the Recurrent Pregnancy Loss (RPL) Guideline Development Group (GDG) of the European Society of Human Reproduction and Embryology (ESHRE) published the updated clinical practice guideline for managing couples with RPL.[1] It was with great interest and satisfaction that we observed the inclusion of new recommendations for counseling, evaluation, and treatment of couples who are so fragile, and often, hopeless with their reproductive potential, due to the lack of answers to their questions. Finally, the ESHRE Guideline update included intravenous immunoglobulin as a possible treatment for couples with unexplained RPL (RN #69). Randomized and nonrandomized clinical trials to evaluate the efficacy and safety of immunotherapies for the treatment of RPL have been conducted since the 1980s. [Extracted from the article]

Studies have investigated the gestational outcomes of new immunological therapies in the treatment of patients with recurrent implantation failure (RIF) in assisted reproductive technology (ART). The objective of this article is to assess the current state of evidence available in the literature on intrauterine perfusion immunotherapies in women undergoing ART treatments. By considering the guidelines of Preferred Reporting Items for Systematic Reviews and Meta‐Analysis (PRISMA), the authors performed systematic review by searching the databases of PubMed/MEDLINE and Scopus using the following key words: "recurrent implantation failure," "intrauterine infusion," "Platelet‐Rich Plasma (PRP)," "Peripheral Blood Mononuclear Cells (PBMC)," "Granulocyte Colony‐Stimulating Factor (G‐CSF)," and "Human Chorionic Gonadotropin (hCG)." The authors analyzed the indications and the impact of new immunological therapies with intrauterine infusions on the pregnancy outcomes of patients undergoing ART. PRP, PBMC, G‐CSF, and hCG were the four most used immunological therapies with intrauterine infusion. These new therapies appear to improve the results of ART treatments in cases of RIF. However, the small number of studies does not allow definitive conclusions about the effectiveness of these therapies. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the difference between chromosomal abnormalities between the gender of couples affected by Recurrent miscarriage (RM) and if there is an association between previous obstetric history and chromosomal abnormalities of the parents.Methods: Multicenter, retrospective, observational study from seven different RM clinics between 2006 and 2016. We enrolled 707 couples (1014 participants) with a history of RM. We compared the frequency of chromosomal abnormalities between groups of couples with primary and secondary RM and separated between women and their partners. Furthermore, we compared the prevalence of chromosomal abnormalities between groups based on the number of previous spontaneous abortions.Results: The overall prevalence of all cytogenetic abnormalities was 5.59% (n = 1414, women and their partners). Excluding cases of polymorphism and inversion of chromosome 9, which are considered variants of normality, the prevalence in all individuals was 2.26% (n = 32/1414). The comparative analysis of cases of chromosomal abnormalities among couples with primary and secondary RM based on the number of previous miscarriages (PM) revealed a similar frequency between groups. The statistical analysis of the total cases (primary PM + secondary PM) in these three groups were as follows: (a) couple, 2 pm versus 3 pm vs. ≥4 PM, p = .514; (b) women, 2 pm versus 3 pm vs. ≥4 PM, p = .347; and (3) partner, 2 pm versus 3 pm vs. ≥4 PM, p = .959. Chromosomal abnormalities were significantly more prevalent among women than among their partners (6.9 versus 4.2%; p = .027). Moreover, the distribution of leading chromosomal abnormalities among women was different compared with their partners. Among women, we observed these abnormalities in the following frequency order: mosaicism (38.8%), polymorphism (32.6%), translocation (16.3%), and inversion (12.3%). Among their partners, these abnormalities were polymorphism (73.3%), inversion (13.3%), mosaicism (6.7%), and translocation (6.7%).Conclusion: The number of PM and the history of full-term pregnancy does not correlate with an increase or decrease in the prevalence of cytogenetic abnormalities in couples with RM. [ABSTRACT FROM AUTHOR]