scholarly journals Ассоциация полиморфизма Т657С гена SYCP3 с потерей беременности на ранних сроках у женщин русской национальности

Author(s):  
A.A.M. Ahmed ◽  
F.U. Ramazanova ◽  
O.B. Gigani ◽  
M.M. Azova

Background. Aneuploidy is a consequence of the chromosome nondisjunction. Majority of aneuploid embryos die in utero between the 6th and 10th week, resulting in early pregnancy loss of approximately 15% of all clinically recognized pregnancies. SYCP3 plays an important role in pairing and recombination of homologous chromosomes in meiosis I, and it has been shown that the lack of this gene leads to sterility in male and subfertility in female mice due to chromosome nondisjunction. So SYCP3 is a candidate gene to evaluate the hypothesis of fetal aneuploidy arisen from meiosis gene mutations as a cause for human early pregnancy loss. Methods. In our study, the SYCP3 T657C polymorphism in 100 Russian women with early pregnancy loss (EPL) that were classified into 2 subgroups: with sporadic pregnancy loss (SPL, n=50) and recurrent pregnancy loss (RPL, n=50), as well as 56 normal fertile women (control), was examined to determine whether there is an association between the polymorphism and early pregnancy loss in Russian population. Genomic DNA was extracted from peripheral blood samples using the standard procedure of a commercially available kit. Genotyping of SYCP3 gene was determined by allele-specific polymerase chain reaction method. Data were analyzed using SPSS statistical software version 22. The chi-square test and Fisher’s exact test were used to compare genotype and allele frequencies between analyzed groups. The odds ratio (OR) and 95% confidence intervals (CI) were used for risk estimation. Results. Frequency of the heterozygous genotype (CT) was significantly higher in the group of women with early pregnancy loss as well as in women with sporadic pregnancy loss (p<0.05). In women with RPL, we found that the frequency of this genotype tended to increase but could not make a significant difference when compared with the control group. Conclusion. Our findings postulate that the T657C polymorphism of the SYCP3 gene is possibly associated with a sporadic early pregnancy loss. Актуальность. Анеуплоидия возникает вследствие нарушения расхождения хромосом, и большинство анеуплоидных эмбрионов погибают до 10 недели гестации, что приводит к потере на ранних сроках приблизительно 15% клинически диагностированных беременностей. Белок SYCP3 играет важную роль в конъюгации и рекомбинации гомологичных хромосом в первом мейотическом делении. Было показано, что отсутствие гена данного белка у мышей приводит к стерильности самцов и снижению фертильности самок вследствие нарушения расхождения хромосом. В этой связи SYCP3 можно рассматривать в качестве кандидатного гена для оценки гипотезы о фетальной анеуплоидии, возникающей в результате мутаций генов, продукты которых участвуют в мейозе, и ведущей к ранним репродуктивным потерям. Методы. В представленной работе был исследован полиморфизм Т657С гена SYCP3 у 100 женщин русской национальности с ранними репродуктивными потерями, подразделенных на две подгруппы: со спорадической потерей беременности (n=50) и привычным невынашиванием (n=50), а также у 56 фертильных женщин (контроль). Целью работы явилось изучение наличия ассоциации между данным полиморфизмом и ранними репродуктивными потерями в русской популяции. Геномная ДНК была выделена из периферической крови, генотипирование выполнялось с использованием аллель-специфической полимеразной цепной реакции. Для сравнения частот генов и генотипов в изучаемых группах применялись критерий Хи-квадрат и точный тест Фишера, для определения которых использовалось программное обеспечение SPSS Statistics, версия 22. Оно также было использовано для расчета отношения шансов (OR) и 95% доверительного интервала. Результаты. Частота гетерозиготного генотипа СТ была достоверно выше в группе женщин с ранними репродуктивными потерями и, в частности, в подгруппе со спорадической потерей беременности (р<0,05). Несмотря на тенденцию к увеличению частоты данного генотипа у женщин с привычным невынашиванием, статистически значимых отличий от контроля обнаружено не было. Заключение. Полученные результаты позволяют предполагать наличие ассоциации между полиморфизмом Т657С гена SYCP3 и спорадической потерей беременности на ранних сроках.

2021 ◽  
Vol 104 (10) ◽  
pp. 1626-1631

Objective: To compare the complete abortion rate, the induction-to-abortion time, and side effects between 600 mcg and 800 mcg misoprostol sublingually. Materials and Methods: Total, of 108 pregnant women with gestational age less than 12 weeks with early pregnancy loss from March 2020 to February 2021 at the Department of Obstetrics and Gynecology, Queen Savang Vadhana Memorial Hospital, were included. For group 1 (n=54), 600 mcg misoprostol was administrated sublingually. For group 2 (n=54), 800 mcg misoprostol was administrated sublingually. If the abortion did not occur, the repeated misoprostol in the same dose would be administrated sublingually every 6 hours for a maximum of three doses. Results: There was no significant difference in the complete abortion rate between the two groups (55.6% in the 600 mcg misoprostol group, 64.7% in the 800 mcg misoprostol group, p=0.339, and 95% CI 0.082 to 1.862). The induction-to-abortion time was 9.5 hours (IQR 6.75 to 48.00) in the 600 mcg misoprostol group and 10 hours (IQR 6.00 to 60.00) in the 800 mcg misoprostol group. The side effects of both groups were similar, included abdominal pain, diarrhea, nausea and vomiting, fever, heavy bleeding, and headache. Conclusion: The efficacy of the 600 mcg misoprostol was noninferior to 800 mcg misoprostol. The adverse effects were similar in both groups. Mean induction-to-abortion time was also similar in both groups. Keywords: Early pregnancy loss; Misoprostol; Medical abortion


2016 ◽  
Vol 48 (1-2) ◽  
pp. 7-10
Author(s):  
Eti Saha ◽  
Fouzia Begum ◽  
Zannatul Ferdous Jesmin

Early pregnancy loss is a frustrating experience for both the patient and the physician. Approximately 5% of couples trying to conceive have 2 consecutive miscarriages and approximately 1% couples have 3 or more consecutive losses. Objective of this study is to determine whether therapy with dydrogesterone or Human chorionic Gonadotrophin hormone (HCG) in history of repeated pregnancy loss during the first trimester of pregnancy will improve pregnancy outcome. This is a prospective open comparative study.Women having early pregnancy presenting to a private clinic with history of early pregnancy loss, having no medical disorder were included in this study. Eligible subjects were randomised to receive either dydrogesterone 20mg daily or injection Human Chorionic Gonadotrophins (HCG) 5000 iu intramuscularly at 72 hours interval up to fourteen weeks of pregnancy or no additional treatment. Follow up of those patients were done with transabdominal ultrasonography. Hundred women were recruited. There was no statistically significant difference between the three groups with regard to pretreatment status. The continuing pregnancy success rate was higher in women treated with dydrogesterone (79.17%) and highest with Injection Human Chorionic, Gonadotrophin (86.36%) compared with women received no treatment (70%), (p=0.358). Hormonal support with either dydrogesterone or Human Chorionic Gonadotrophin may increase the chances of a successful pregnancy in women with a history of spontaneous abortion.Bang Med J (Khulna) 2015; 48 : 7-10


2019 ◽  
pp. 1-4
Author(s):  
Deepali Janugade

OBJECTIVE : To evaluate the effectiveness of metformin therapy in preventing early pregnancy loss in pregnant women with polycystic ovary syndrome (PCOS). MATERIALS AND METHODS : This is a prospective cohort study conducted in the Obstetric Department of Krishna Institute of Medical Sciences, Karad, Maharashtra, India for a period of 2 years. This study involved 100 nondiabetic pregnant women with PCOS. They were divided into two groups, namely, the group that received metformin throughout pregnancy (metformin group) and the group that got pregnant but, did not receive metformin (control group). A comparison was made between the two groups of patients with respect to certain basal characteristics (age, body mass index, previous obstetric outcome, serum glucose with free testosterone). Statistical analysis was performed using Chi-square test to compare the differences between the two groups. RESULTS : There were 50 patients who received metformin during pregnancy (metformin group) compared with 50 patients who did not receive the treatment (control group). The rate of early pregnancy loss in the metformin group was 10% (5/50) compared with 36% (18/50) in the control group (p < 0.001). For patients in the metformin group with a history of previous miscarriage, the rate of pregnancy loss was 45% (35 cases/50 pregnancies). CONCLUSION : Metformin therapy in pregnant women with PCOS was associated with a significant reduction in the rate of early pregnancy loss


2021 ◽  
Vol 11 ◽  
Author(s):  
Montse Pauta ◽  
Cèlia Badenas ◽  
Laia Rodriguez-Revenga ◽  
Anna Soler ◽  
Maribel Grande ◽  
...  

Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic villi sampling (CVS) offered to women experiencing an early pregnancy loss.Methods: During a 3-year period (January 2016–December 2018), CVS was offered to women experiencing an early pregnancy loss before the evacuation of the products of conception (POC) to retrieve chorionic villi, irrespective of the number of previous losses. A new molecular work-up was prospectively assayed encompassing a first QF-PCR round (with the 21, 18, 13, 7, X, and Y chromosomes), a second QF-PCR round (with the 15, 16, and 22 chromosomes), and a high resolution SNP-array in those cases with normal QF-PCR results. A control group in which POC were collected after surgical uterine evacuation was used to be compared with the intervention group.Results: Around 459 women were enrolled in the intervention group (CVS) and 185 in the control group (POC after uterine evacuation). The QF-PCR testing success rates were significantly higher in the intervention group (98.5%: 452/459) as compared to the control group (74%: 109/147; p &lt; 0.001), while the chromosomal anomaly rate at the two QF-PCR rounds was similar between the two groups: 52% (234/452) in the intervention and 42% (46/109) in the control group (p = 0.073). The SNP-array was performed in 202 QF-PCR normal samples of the intervention group and revealed 67 (33%) atypical chromosomal anomalies (&gt;10 Mb), 5 (2.5%) submicroscopic pathogenic copy number variants, and 2 (1%) variant of uncertain significance (VOUS).Conclusion: Eighty-two percent of women experiencing an early pregnancy loss opted for a CVS. The testing success rates were higher in the intervention group (CVS; 98%) as compared to the control group (POC; 74%). The overall yields were 52% by QF-PCR (including three complete hydatiform moles), and 16% by SNP-array, including 15% atypical chromosomal anomalies and 1.1% submicroscopic pathogenic copy number variants.


Author(s):  
Basma S. Ibrahem ◽  
Amal A. El Syokar ◽  
Ahmed M. Ossman ◽  
Tarek M. El-Saba

Background: The most prominent source of anovulatory infertility in the world is polycystic ovary syndrome. Getting pregnant these days has a larger risk of early maternal death than in the general population. It induces symptoms in about five and ten percent of women of reproductive age (12-45 years old). Women that are insulin tolerant are more prone to have Elevated Insulin levels, Polycystic OVARIES and Hyperandrogens. They are at risk for suboptimal reproductive activity attributable to compromising ovarian function and hormonal equilibrium. The aim of this research was to determine the prevalence of late pregnancy failure in women with Polycystic Ovary Syndrome (PCOS) taking metformin as compared to women who don't take it. Materials and Methods: This case control-controlled study included 100 females and divided in to two groups. Each group composed of 50 patients and the patients were distributed   in each group by simple Randomization method. Results: There was no significant difference between control and study group regarding todescriptive data. Association between rate of pregnancy loss and metformin treatment early pregnancy loss was significantly frequent in control group than in study group with metformin treatment. Gestational age (weeks)at which pregnancy loss occurred is significantly higher in study group than in control group. The rate of early pregnancy loss among studied groups is significantly lower than in control group. Conclusion: Metformin therapy in pregnant women with polycystic ovary syndrome was associated with a significant reduction in the rate of early pregnancy loss. It was well tolerated by patients with a minimum of side effects. However, extended studies are required to evaluate its effect on further pregnancy complications and fetal outcomes.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.


2000 ◽  
Vol 79 (1) ◽  
pp. 43-48 ◽  
Author(s):  
PÉTER FEDORCSÁK ◽  
RITSA STORENG ◽  
PER OLAV DALE ◽  
TOM TANBO ◽  
THOMAS ÅBYHOLM

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