scholarly journals Mathematical modeling of pregnancy loss with normal embryo karyotype in the first trimester

2020 ◽  
Author(s):  
N. N. Potapov ◽  
E. V. Kudryavtseva ◽  
V. V. Kovalev
Keyword(s):  
Pregnancy Loss ◽  
Molecular Genetic ◽  
Perinatal Outcomes ◽  
Health Indicators ◽  
Normal Karyotype ◽  
Mthfr C677t ◽  
First Trimester ◽  
Normal Embryo ◽  
Control Group ◽  
Mtrr A66g

Introduction. The risk of pregnancy loss in the first trimester is 12.5–18.7 %. The development of methods for predicting miscarriage is timely and relevant.Aim: to develop a predictive model for assessing the risk of miscarriage in the case of a normal embryo karyotype.Materials and Methods. The single-center cohort retrospective comparative study included 52 women with miscarriage at 6–12 weeks of gestation with a normal embrio karyotype (main group) and 126 women with physiologically progressing pregnancies and favorable perinatal outcomes (control group). All patients underwent general clinical and laboratory examination, analysis of genetic polymorphisms (FGBG -455A, F2 G20210A, F5 G1691A, F7 G10976A, F13 G103A, PAI1 -675 5G/4G, ITGA2 C708T, ITGB3 T176C, MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, NOS3 T-786C, NOS3 С894T), examination of the spouse.Results. The factors associated with the loss of pregnancy were a history of infertility, adenomyosis in the patient, a higher platelet count, and an abnormal spermogram of the partner. Significant differences were obtained between the studied groups in the frequency of occurrence of polymorphisms PAI-1 -675 5G/4G, MTHFR C677T, MTRR A66G, NOS3 G894T. On the basis of the revealed patterns, a mathematical model has been developed that makes it possible to determine the high risk of pregnancy loss in the first trimester (86.0 % efficiency).Conclusion. With a comprehensive assessment of clinical and anamnestic indicators, molecular genetic parameters, health indicators of the spouse, it is possible to determine risk groups for pregnancy loss with a normal karyotype of the embryo. Timely forecasting provides the basis for optimizing preconception care and timely prevention of miscarriage.

Predicting the Development of Great Obstetric Syndromes Based on Multilocus Genetic Analysis: Results of a Retrospective Comparative Cohort Study

2021 ◽  
Vol 76 (3) ◽  
pp. 244-253
Author(s):  
Elena V. Kudryavtseva ◽  
Vladislav V. Kovalev ◽  
Igor I. Baranov ◽  
Igor V. Ugarov
Keyword(s):  
Cohort Study ◽  
Pregnancy Complications ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Mthfr C677t ◽  
Main Group ◽  
Control Group ◽  
Mtrr A66g ◽  
Comparative Cohort Study ◽  
Polymorphic Variants

Background. Great obstetric syndromes are pathological conditions, related to the level of maternal, perinatal and infant morbidity and mortality. There is a genetic component in the development of pregnancy complications, as evidenced by numerous clinical observations and research results. Purpose to study the frequency characteristics of the occurrence of polymorphic variants of various genes and their combinations in patients who underwent pregnancy complicated by great obstetric syndromes in comparison with women whose pregnancy proceeded without complications and successfully ended with the birth of a live full-term baby. Methods. A retrospective comparative cohort study was conducted. Molecular genetic research was carried out in 391 women: 279 women who underwent one of the verified clinical forms related to great obstetric syndromes (main group), 112 women were included in the control group. 37 polymorphisms in 33 genes were studied (FGB, F2, F5, F7, F13, GPIa, GPIIIa, GPVI, PROC, PAI1, PLAT, MTHFR, MTHFD, MTRR, MTR, SLC19A1, CBS, NOS3, END1, ACE, ADD1, AGT , CYP11B2, GSTM, GSTT, GSTP1, MnSOD, GPX1, IL1, TNF-a, ESR1, ESR2, PGR). Results. The most significant polymorphisms and their combinations were identified. In the main group, the following combinations were more common: ACE Alu I/D ID + AGT А704G GG, AGT А704G GG + MTRR A66G AG, F7 G10976A GG + AGT А704G GG, F7 G10976A GG + F13 G103A GG, F7 G10976A GG + GPIa С807T CC, F7 G10976A GG + MTHFR C677T CC, CYP11B2 G-344A GA + IL1 G+3953A GA, PAI1-657 5G/4G 5G4G + IL1 G+3953A AA, PAI1-657 5G/4G 4G4G + IL1 G+3953A AA, in control group AGT A704G AA + MTRR A66G AG, AGT A704G AG + MTRR A66G AG (the differences are statistically significant). To simplify the practical application of the analysis for genetic polymorphisms, a computer program named GOS RISK was created to assess the risk of pregnancy complications. The sensitivity and specificity were 70.8% and 78.8%, the efficiency of the method 74.8%. Conclusion. Analysis of individual polymorphic variants of genes indicates their role in the discussed pathology. Creation of computer programs based on multilocus genome analysis increases the predictive value of molecular genetic studies.

The relationship between first-trimester haemoglobin a1c and pregnancy loss in women with type 1 diabetes mellitus

2012 ◽  
Vol 19 (3) ◽  
pp. 229-236
Author(s):  
Alin Albai ◽  
Viorel Șerban ◽  
Romulus Timar ◽  
Adrian Vlad ◽  
Bogdan Timar ◽  
...  
Keyword(s):  
Glycemic Control ◽  
Pregnancy Loss ◽  
First Trimester ◽  
Adverse Outcomes ◽  
Control Group ◽  
Haemoglobin A1c ◽  
Diabetes Clinic ◽  
Increasing Risk ◽  
The Relationship

Abstract Background and aims: A precarious glycemic control in the first 10 weeks ofpregnancy, the period defining organogenesis, increases the risk of pregnancy loss.The aim of this study was to estimate the relationship between pregnancy loss andHbA1c values in early pregnancy in type 1 diabetic women.Material and method: The present study included all pregnancies in type 1 diabetic women followed atDiabetes Clinic, Emergency County Clinical Hospital, Timişoara, from 1990-2011.Results: The risk of pregnancy loss was significantly increased compared with thebackground control group. In our study the relative risk of pregancy loss increasedwhen HbA1c exceeded 6.5%. We found a consistent increasing risk with stepwiseincreasing levels of HbA1c. Conclusions: A better glycemic control in this periodand throughout the pregnancy could reduce the risk of severe adverse outcomes intype 1 diabetic pregnancies.

scholarly journals Gestation in patients with a combination of antiphospholipid and torch syndromes

2021 ◽  
Vol 6 (2) ◽  
pp. 41-50
Author(s):  
E. N. Kravchenko ◽  
A. A. Goncharova
Keyword(s):  
Pregnant Women ◽  
Medical Records ◽  
Pregnancy Loss ◽  
Preconception Care ◽  
First Trimester ◽  
Placental Insufficiency ◽  
Control Group ◽  
Fetal Hypoxia ◽  
History Of ◽  
Threatened Abortion

Aim. To study the features of gestation in women with a combination of antiphospholipid and TORCH syndromes in relation to preconception care.Materials and Methods. We analyzed 137 medical records of women with a past medical history of pregnancy loss and antiphospholipid syndrome (APS), focusing on the presence or absence of plasmapheresis in the preconception period, and further ranking the patients into 2 subgroups (with and without TORCH syndrome). As a control group, we included 28 pregnant women without both syndromes.Results. Gestation in women with combined APS and TORCH syndromes was accompanied by a 10-fold higher risk of threatened abortion in the first trimester and 3-fold higher risk of placental insufficiency as compared to those without both syndromes. Notably, the combination of the syndromes doubled the risk of placental insufficiency in comparison with APS alone. The lack of plasmapheresis in patients with APS and TORCH syndrome was associated with > 2-fold higher risk of threatened abortion. Further, in patients with APS and TORCH syndrome, lack of plasmapheresis increased the likelihood of developing fetal hypoxia by a factor of 2 and 3 in comparison with those diagnosed with APS alone or control patients.Conclusions. TORCH syndrome is a major risk factor of adverse outcome in pregnant women with APS. Inclusion of plasmapheresis into the preconception care in women with APS and TORCH syndrome significantly reduced the development of pregnancy complications. 

scholarly journals The Rate of Pregnancy Loss in Von Willebrand Disease: A Cross-Sectional Study

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2843-2843
Author(s):  
Leslie Skeith ◽  
Natalia Rydz ◽  
M. Dawn Goodyear ◽  
Man-Chiu Poon
Keyword(s):  
Pregnancy Loss ◽  
First Trimester ◽  
Cross Sectional Study ◽  
Von Willebrand Disease ◽  
Control Group ◽  
Cross Sectional ◽  
Postpartum Bleeding ◽  
Bleeding Score ◽  
Von Willebrand ◽  
And Control

Pregnancy and delivery represent a major hemostatic challenge in von Willebrand disease (VWD). In addition to maintaining adequate hemostasis, von Willebrand factor (VWF) is an important regulator of angiogenesis, with angiodysplasia contributing to morbidity in patients with VWD. Placental development is complex, with vascular development important for fetal growth and viability. It has been hypothesized that antepartum bleeding or abnormal placental angiogenesis may lead to pregnancy loss in women with VWD. Large studies have reported an increased risk of postpartum bleeding in patients with VWD, however, little information is available for rates of pregnancy loss. We conducted a cross-sectional study to determine the rate of pregnancy loss in women with VWD, when compared to a control population. We invited all women with VWD followed by the Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program to participate in an online or paper questionnaire, along with a control group of women without VWD identified through a low-risk obstetrical clinic in Calgary, Alberta. We included patients who were 18 years of age or older with a diagnosis of VWD, defined as VWF antigen and activity levels less than 50 percent or a historical diagnosis, in combination with a bleeding score of 4 or more (condensed MCMDM-1 bleeding questionnaire). Patients were excluded if they had no past pregnancies, no mailing address, or had an alternative bleeding disorder. Our 20-item questionnaire was reviewed and pre-tested by hematologists, obstetricians and laypeople. With patient consent, data was supplemented from clinical and hospital records to verify and expand on the information collected in the questionnaire. The primary outcome was the incidence of spontaneous abortion (fetal loss <20 weeks) or late pregnancy loss (≥20 weeks) in women with VWD. The secondary outcomes were antepartum and postpartum bleeding. Data on co-morbidities including placental abnormalities were also collected. Confidence intervals for proportions were calculated using the Wilson’s score method. Groups were compared using χ2 testing, with p values < 0.05 considered significant. Of the 98 women with VWD who met the study inclusion criteria, 31 (32%) completed the questionnaire. The mean bleeding score was 10.3 in VWD patients (SD 3.6). The majority (81%) of participants were diagnosed with Type 1 VWD, with 16% and 3% diagnosed as Type 2 and 3 VWD, respectively. Twenty-two women in the control group completed the questionnaire. The mean age at recruitment was 46.1 (SD 13.7) and 32.6 (SD 4.2) in the VWD and control group, respectively. There were 83 and 48 pregnancies in the VWD and control group, respectively. Two women in the VWD group and 1 woman in the control group had an elective pregnancy termination. In women with VWD, the rate of pregnancy loss was 24.7% out of 81 pregnancies (95% confidence interval 16.6-35.1), with 17 (85%) losses occurring less than 20 weeks, and 3 (15%) with unknown timing. In contrast, the rate of pregnancy loss in the control group was 12.8% (95% CI 5.96-25.17) (p=0.106), all occurring less than 20 weeks. In 83 pregnancies, the number of antepartum bleeding episodes in VWD women was 45 (29 first trimester, 9 second trimester, 7 third trimester), compared to the control group (9 first trimester, 3 second trimester, 1 third trimester) in 48 pregnancies. More women with VWD reported excessive postpartum bleeding compared to controls (56.7% versus 13.6%, p=0.002), with more delayed (>24 hour) bleeding post-delivery in women with VWD. In VWD women with and without pregnancy loss, there was no difference in mean bleeding score (9.7 vs. 10.9). There was also no difference in cases of pre-eclampsia, placental abruption or gestational hypertension in VWD women with and without pregnancy loss. Two VWD patients with previous pregnancy loss developed gastrointestinal angiodysplasia later in life. There was no significant increase in the rate of pregnancy loss in women with VWD, however, a larger cohort study is needed to confirm the rate of pregnancy loss before further conclusions can be made. Disclosures No relevant conflicts of interest to declare.

C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

2016 ◽  
pp. 156-158
Author(s):  
N.P. Veropotvelyan ◽  
◽  
Y.S. Pogulyay ◽  
D.A. Nesterchuk ◽  
M.N. Sviridov ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Mthfr C677t ◽  
Control Group ◽  
Mthfr Polymorphism ◽  
C677t Mthfr ◽  
Homozygous Genotype ◽  
Comparison Groups ◽  
Definition Of

The article presents the data of its own investigation to determine the existence of relationship formation chromosomal aberrations in the fetus with the mother’s genotype polymorphism C677T MTHFR. Materials and methods. Two groups were formed: 1 group – of women with chromosomal abnormalities in the fetus (n=131); 2 group the fruits that have been identified with the use of СA prenatal karyotyping (n=110). By way of comparison groups used women with karyotyped fruits without chromosomal abnormalities (n=139). Control group consisted of 114 healthy women who have one or more of a healthy child. In all groups performed the definition of polymorphism C677T MTHFR. Results. The genotype of C/T was significantly (p<0.01) 1.33 times more common in the group of women who had a fetus with normal karyotype and a control group of women, against women who had a fetus with CA. Genotype T/T was significantly 6.3 times (p<0.01) is more common in women selected for the prenatal diagnosis compared with women in the control group. When calculating the odds ratio shows that the risk of having a fetus with signs of chromosomal aberrations increased 7-fold (OR=7.000) in women with genotype T/T 677 MTHFR. Conclusion. Homozygous genotype for the mutant allele of MTHFR C677T T polymorphism in women with a high probability it determines the group at risk of chromosomal abnormalities in the fetus. Key words: folate metabolism, chromosomal abnormalities.

ASSOCIATION OF C677T POLYMORPHISMS OF MTHFR GENE WITH RECURRENT PREGNANCY LOSS IN VIETNAMESE WOMAN

2019 ◽  
pp. 7-12
Author(s):  
Thanh Nha Uyen Le ◽  
Thi Minh Thi Ha ◽  
Viet Nhan Nguyen
Keyword(s):  
Pregnancy Loss ◽  
Genetic Factors ◽  
Recurrent Pregnancy Loss ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Statistic Analysis ◽  
Vietnamese Woman ◽  
Vietnamese Women

Background: Recurrent pregnancy loss is a major concern in gynecology. Recently, many papers have showed the role of genetic factors in etiology of recurrent pregnancy loss. Several published studied revealed that C677T polymorphism is a high risk of recurrent pregnancy loss. However, this finding is still controversy. Therefore, this study is aimed at investigating the association of C677T polymorphisms of MTHFR gene with recurrent pregnancy loss in Vietnamese woman. Methods: Study subjects comprised 100 healthy women (control group) and 52 women with recurrent pregnancy loss. C677T polymorphisms were identified by PCR-technique. Results: The frequency of 677CC, 677CT, and 677TT genotypes in Vietnamese women with recurrent pregnancy loss is 65.4%, 30.8%, 3.8%, respectively; while the distribution of those genotypes in the control-group is 86%, 12%, và 2% (χ2 = 8.83; p = 0.012). Statistic analysis revealed that MTHFR C677T polymorphismsare associated with recurrent pregnancy loss (for CT vs. CC: OR= 3.37, 95%CI: 1.44 – 7.87, p = 0.0049; for (677CT + 677TT) vs. CC: OR= 3.25, 95%CI: 1.46 – 7.26, p = 0.004; for T vs. C: OR= 2.74, 95%CI:1.55 – 5.55, p = 0.005). Key words: Recurrent pregnancy loss, C677T polymorphisms, MTHFR gene

scholarly journals MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions

2013 ◽  
Vol 16 (1) ◽  
pp. 31-39 ◽  
Author(s):  
Š Stangler Herodež ◽  
B Zagradišnik ◽  
A Erjavec Škerget ◽  
A Zagorac ◽  
I Takač ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Mthfr C677t ◽  
Control Group ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Mthfr Polymorphisms ◽  
Embryonic Tissues ◽  
Allele Specific ◽  
Fertility Problems ◽  
677T Allele

Abstract The objective of this study was to analyze the methylenetetrahydrofolate reductases (MTHFRs) C677T and A1298C genotype distributions in couples with unexplained fertility problems (UFP) and healthy controls, and to analyze the genotype and haplotype distribution in spontaneously aborted embryonic tissues (SAET) using allele specific polymerase chain reaction (PCR) in 200 probands with UFP, 353 samples of SAET and 222 healthy controls. The analysis revealed a significant overall representation of the 677T allele in male probands from couples with UFP (p = 0.036). The combined genotype distribution for both MTHFR polymorphisms was also significantly altered (χ2 21.73, p <0.001) although female probands made no contribution (c2 1.33, p = 0.72). The overall representation of the 677T allele was more pronounced in SAET (0.5 vs. 0.351 in controls, p <0.001) regardless of the karyotype status (aneuploidy vs. normal karyotype). In addition, the frequencies of the CA and CC haplotypes were significantly lower than in the control group (p = 0.021 and p = 0.001, respectively), whereas the frequency of the TC haplotype was significantly higher than in controls (p <0.0001). The presented findings indicate that only male probands contribute to the association of MTHFR mutations with fertility problems in grown adults and demonstrate a high prevalence of mutated MTHFR genotypes in SAET.

scholarly journals The effect of the maternal vitamin D level on the risk of spontaneous pregnancy loss in the first trimester

2021 ◽  
Vol 10 (6) ◽  
pp. 2215
Author(s):  
Sharmin Ferdous ◽  
Farhat Hussain ◽  
Samira Hayee ◽  
Nahreen Akhtar ◽  
Suraiya Khanam ◽  
...  
Keyword(s):  
Vitamin D ◽  
Pregnancy Loss ◽  
Serum Vitamin ◽  
First Trimester ◽  
Maternal Serum ◽  
Control Group ◽  
Case Group ◽  
Maternal Vitamin ◽  
Serum Vitamin D ◽  
Spontaneous Pregnancy

Background: Pregnancy loss in the first trimester is one of the most disappointing matters for a mother. But spontaneous pregnancy loss in the first trimester is the most common negative outcome of pregnancy. It's estimated that about 10% of known pregnancies are lost in the first trimester whereas fewer than 4% of pregnancies miscarry in the second trimester. Aim of current study was to assess the effect of the maternal vitamin D level on the risk of spontaneous pregnancy loss in the first trimester.Methods: It was a case-control study conducted in the department of obstetrics and gynecology, Sir Salimullah medical college Mitford hospital, Dhaka, Bangladesh during the period of September 2018 to August 2019. A total of 100 patients were included in this study. Statistical analyses of the results were obtained by using window-based computer software devised with SPSS version 22.0.Results: In analyzing the association of serum vitamin D status with first-trimester pregnancy state it was observed that more than half (52.0%) patients had severe deficiency (<10 ng/ml) in the case group and 14 (28.0%) patients in the control group. In total 24 (48.0%) patients had deficiency (10-20 ng/ml) in case and 35 (70.0%) in control group. Only 1 (2.0%) patient had insufficiency (21-29 ng/ml) in control group. The difference was statistically significant (p<0.05) between the two groups.Conclusions: Maternal serum vitamin D deficiency was significantly associated with early spontaneous pregnancy loss in the first trimester.

scholarly journals Individualized Folic Acid Supplementation based on Polymorphisms of Methylenetetrahydrofolate Reductase (MTHFR) and Methionine Synthase Reductase (MTRR), Compared with Traditional Folic Acid Supplementation, Reduces Gestational Diabetes Mellitus

2022 ◽  
Author(s):  
Xiaoying Yu ◽  
Le Diao ◽  
Baoying Du ◽  
Ying Wang ◽  
Xiaoqin Xv ◽  
...  
Keyword(s):  
Folic Acid ◽  
Gestational Diabetes ◽  
Pregnant Women ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Allele Frequencies ◽  
Control Group ◽  
Case Group ◽  
Methionine Synthase Reductase ◽  
Mtrr A66g

Abstract Backgroud: Folic Acid (FA) may contribute to the development of gestational diabetes mellitus (GDM), but existing studies are inconsistent. We examined the genotype distributions and allele frequencies of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms of pregnant women in China, and compared the effects of individualized folate supplementation and traditional FA supplementation on GDM.Methods: The genotype distributions and allele frequencies of MTHFR C677T, A1298C and MTRR A66G polymorphisms in 968 pregnant women (case group) were tested. FA metabolism was ranked at four levels, and then pregnant women of different levels are supplemented with different doses of FA at different periods. The case group was followed up for pregnancy complications and compared with 1,940 pregnant women traditionally supplemented with FA in the same hospital (control group).Results: The allele frequencies of MTHFR C677T were 63.3% (C) and 36.7% (T), those of MTHFR A1298C were 79.3% (A) and 20.7% (C), and those of MTRR A66G were 75.0% (A) and 25.0% (G). Compared with control group, the incidence of GDM in the case group were significantly lower, especially in high-risk pregnant women after FA supplementation.Conclusion: Traditional FA supplementation based on personal habits is controversial, but the use of polymorphisms of genes to clarify the FA metabolism of pregnant women, appropriate, timely and accurate supplementation of FA can effectively reduce gestational diabetes, especially for high-risk pregnant women.

scholarly journals MTHFR 677 C< T and 1298 A>C polymorphisms increases the risk of recurrent abortion in the Iraqi woman

2021 ◽  
Author(s):  
Emad Salaam Abood ◽  
Maryam Sabah Naser ◽  
Raheem Jabaar Naser
Keyword(s):  
Human Blood ◽  
Protein C ◽  
Methylenetetrahydrofolate Reductase ◽  
Protein S ◽  
Mthfr C677t ◽  
First Trimester ◽  
Mthfr Gene ◽  
Control Group ◽  
C Protein ◽  
Cardiolipin Antibodies

Abstract Background: The C677T and A1298C polymorphism mutations in the methylenetetrahydrofolate reductase (MTHFR) gene will be investigated in a multi-abortion study. Aim: To determine mutation (SNP) in the methyl tetrahydrofolate reductase (MTHFR) Gene with multiple abortion. Methods: “We nominated two hundred patients for this study in three groups: the study group, The first group included 50 women with a history of 1 or 2 missed first trimester Abortions and fifty to control group the last group which consisted of one hundred Patients with a history more than two missed abortion. Anticoagulants human blood tests such as (protein C, protein S, and lupus) as well as general serum tests IgG and IgM for (Cytomegalovirus, Toxoplasma gondii, Rubella virus, Anti-cardiolipin antibodies and anti-phospholipid antibody) were performed. In addition, screening of the maternal MTHFR C667T and MTHFR a 1298C mutation was determined by PCR.Result: all common serum test for study population (CMV, Toxo, Rubella, ACA and APL) IgG and IgM, also anticoagulants human blood test (protein C, protein S and Lupus) is negative. The frequency of heterozygous (genotype) A1298C and C677T was similar. The distribution of MTHFR, C677T and A1298C genotypes show significantly differences P ≤ 0.05; OR= (95%CI) between patients with multiple abortions and control subjects.Conclusions: the result suggestion MTHFR A>C 1298 and C< T 677 polymorphisms might be associated with multiple abortion in the examined population.

Sign in / Sign up

Export Citation Format

Share Document