Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

Gulino, Ferdinando Antonio; Capriglione, Stella; Fauzia, Marta; Gregorio, Luisa Maria Di; Stefano, A. Di; Musmeci, Giulia; Angioli, Roberto; Palumbo, Marco

doi:10.1080/09513590.2016.1188378

Cited by 6 publications

(6 citation statements)

References 14 publications

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“…These results were in accordance with Gulino, 15 who found MTHFR gene mutation in most infertile patients selected for thrombophilia screening. The number of mutations for each patient is not detailed, since, according to Patounakis, 16 outcomes cannot be predicted by the cumulative number of thrombophilic mutations present in the patient.…”

Section: Resultssupporting

confidence: 92%

The postpartum uterine ultrasonographic scale in assessment of uterine involution after cesarean section in treated thrombophilia pregnant patients at term

Filip

Covali

Socolov

et al. 2022

Clinical Laboratory Analysis

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Background Pregnancy is a prothrombotic condition which can be abnormally exaggerated in women with thrombophilia. Methods In a prospective study, patients who delivered at term, by cesarean section, between 1 October 2017 and 1 December 2021, who already had a diagnosis of thrombophilia before coming to our hospital, were included in the study group ( n = 80). A similar number of nonthrombophilia patients ( n = 80) without any history of thrombotic events, age‐ and para‐matched with the study group, were included in the control group. The postpartum uterine ultrasonographic scale (PUUS) values, in the first 24–48 h, were correlated with the patients' data. Results The P‐LCR (platelet large cell ratio), was significantly higher in the treated thrombophilia group ( p = 0.042). There was no correlation between PUUS and complete blood count values, coagulation factors, maternal characteristics, or fetal outcomes, except for postpartum neutrophils ( p = 0.047) and postpartum platelet count ( p = 0.046). Conclusions Postpartum uterine involution was not significantly different, after cesarean section, between treated thrombophilia patients and nonthrombophilia patients. Involution correlated only with postpartum neutrophils and postpartum platelet count.

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Section: Resultssupporting

confidence: 92%

The postpartum uterine ultrasonographic scale in assessment of uterine involution after cesarean section in treated thrombophilia pregnant patients at term

Filip

Covali

Socolov

et al. 2022

Clinical Laboratory Analysis

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“…There is accumulating evidence that there is a connection between thrombophilia factor MTHFR and infertility of both men and women (1,3,(10)(11)(12)(16)(17)(18). In females, the C677T mutation in the MTHFR gene greatly increases the risk of miscarriage (1,3,11,(16)(17)(18).…”

Section: Discussionmentioning

confidence: 99%

“…In females, the C677T mutation in the MTHFR gene greatly increases the risk of miscarriage (1,3,11,(16)(17)(18). As far as males with azoospermia are concerned, there is a high prevalence of the MTHFR C677T mutation in comparison to fertile controls (19,20).…”

Section: Discussionmentioning

confidence: 99%

“…While male infertility accounts for about half of infertility cases that characterize 15-20% of couples (9), to our knowledge there is no report of testing of the two major coagulation factor mutations in infertile men. Another common thrombophiliacausing mutation, C677T, in the methylene-tetrahydrofolate reductase (MTHFR) gene has been associated with both female and male infertility (10)(11)(12).…”

Section: Abstract Background: Thrombophilia-related Mutations Such mentioning

confidence: 99%

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Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Yapijakis

Pachis²,

Avgoustidis

et al. 2016

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“…Most recent findings have described a negative feedback function of MTHFR C677T mutation in the coordination of follicle development. In a study composed of 262 women undergoing a fresh cycle of IVF with ICSI, the polymorphism frequency of related genes, for example, the ACE and PAI-1 genes, especially the most common mutation of the MTHFR gene C667T, were found to be increased in women reporting failures in IVF techniques (21). Pavlik et al (22) indicated that the MTHFR 677TT genotype is associated with higher serum AMH concentrations and has a negative effect on numbers of oocytes retrieved in 270 women undergoing COH for IVF.…”

mentioning

confidence: 99%

MTHFR C677T polymorphism is associated with follicle-stimulating hormone levels and controlled ovarian hyperstimulation response: a retrospective study from the clinical database

Zeng

Wang

et al. 2019

Fertility and Sterility

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This genetic association study included 722 infertile women who received the standard long treatment protocol with accessible and complete electronic medical records. Intervention(s): None. Main Outcome Measure(s): The clinical parameters were obtained from the Intravenous Infusion Safety Evaluation center. Result(s): Basal FSH levels in the TT group were significantly higher than those of the CC group. The FSH levels after down-regulation in the TT group were higher than those of CC/CT genotypes. The TT genotype patients received significantly higher total doses of GnRH agonist and FSH compared with CC/CT genotypes, whereas the total dose of hCG was higher in the CT genotypes compared with the CC/ TT genotypes. Further association analysis between hormone levels and COH outcomes indicated significantly negative correlation of basal FSH levels with antral follicle count and number of oocytes as well as the down-regulation FSH levels with the number of metaphase II oocytes and oocytes. Conclusion(s):The MTHFR C677T polymorphism was associated with high doses of ovarian stimulation medications, as well as higher FSH levels. The negative correlation between FSH levels and the number of oocytes suggested that C677T polymorphism may play a role in the poor prognosis of COH oocytes. This needs to be studied in future prospective studies with longer follow-up. (Fertil Steril Ò 2019;111:982-90. Ó2019 by American Society for Reproductive Medicine.) El resumen está disponible en Español al final del artículo.

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Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

Cited by 6 publications

References 14 publications

The postpartum uterine ultrasonographic scale in assessment of uterine involution after cesarean section in treated thrombophilia pregnant patients at term

The postpartum uterine ultrasonographic scale in assessment of uterine involution after cesarean section in treated thrombophilia pregnant patients at term

Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

MTHFR C677T polymorphism is associated with follicle-stimulating hormone levels and controlled ovarian hyperstimulation response: a retrospective study from the clinical database

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