SONOGRAPHIC MARKERS OF ASSOCIATION OF FOLATE CYCLE POLYMORPHIC GENES AND EPIGENETIC FACTORS

2021 ◽  
pp. 92-100
Author(s):  
T. D. Alieva
Keyword(s):  
Pregnant Women ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Epigenetic Factors ◽  
Childbearing Age ◽  
Screening Programs ◽  
Reproductive Losses ◽  
Adverse Pregnancy ◽  
Genetically Determined ◽  
Folate Cycle

Reproductive losses in Ukraine are about twice the European average, but have the same causes: miscarriage, abortion, malformations, parental infertility, death of women of childbearing age and children under six days of age. The study focuses on genetically determined reproductive losses associated with folate cycle polymorphism, some other polymorphisms, and epigenetic factors that increase the risk of adverse pregnancy outcomes. Methods of systematic and demographic analysis studied the indices of medical and statistical observation of the population of the Kharkiv region within the period of 2008−2018 with an emphasis on the results of biochemical, molecular genetic and sonographic examinations of pregnant women. Data on the number of examined pregnant women were analyzed using ultrasonographic and biochemical studies at the level of alpha−fetoprotein, chorionic gonadotropin and free estriol in the framework of selective screening programs for pregnant women. Statistical data on the number of fetuses and newborns who died during the first − sixth day after birth, with a distribution on the basis of full−term have been studied. The data are compared with similar national indices. The directions of reducing the reproductive losses are offered, including complex inspection of pregnant women with use of ultrasonography, biochemical and molecular−genetic methods of diagnostics of genetic diseases and defects of fetus development. Among the epigenetic factors we have identified obesity and old age of pregnant women, among the types of abortions we did medical abortions associated with stillborn pregnancies, as well as miscarriages. The findings of the study can be used to minimize the effects of risk factors for reproductive loss in the activity of general practitioners. Key words: polymorphism of folate cycle genes, reproductive losses, miscarriage, congenital malformations of fetus, ultrasonography.

The role of thrombophilia in the genesis of reproductive losses

2017 ◽  
Author(s):  
I.B. Manukhin , N.F. Kuneshko , G.M. Turgunova et all
Keyword(s):  
Pregnant Women ◽  
High Frequency ◽  
Molecular Genetic ◽  
Fetal Loss ◽  
Reproductive Function ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Reproductive Losses ◽  
Genetically Determined

Objective. Defining the role and frequency of acquired and genetic thrombophilia in the genesis of fetal loss syndrome. Methods. 49 pregnant women with a syndrome of reproductive losses and 27 pregnant women with normal reproductive function were examined. The identification of genetic forms of thrombophilia was performed by the method of molecular genetic analysis in 3 phases. Results. In 31 pregnant women of the main group (63,3 %) and 9 pregnant women in the control group (33,3 %) were the presence of acquired, genetically determined or multigeneration. Conclusion. Our analysis of clinical material showed a high frequency of complications and outcomes of pregnancy in women with thrombophilia and fetal loss syndrome and a possibility to avoid the above complications and poor pregnancy outcomes.

scholarly journals Molecular Genetics and Fetal Brain

2008 ◽  
Vol 2 (3) ◽  
pp. 87-99
Author(s):  
Ana Stavljenic-Rukavina
Keyword(s):  
Genetic Testing ◽  
Clinical Medicine ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Fetal Brain ◽  
Clinical Findings ◽  
Ultrasound Assessment ◽  
Molecular Aspects ◽  
Genetically Determined ◽  
Risk Determinants

Abstract Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.

scholarly journals Schistosomiasis among pregnant women in the Njombe-Penja health district, Littoral region of Cameroon: A cross sectional study

2019 ◽  
Author(s):  
Calvin Tonga ◽  
Charlie Ngo Bayoi ◽  
Flore Chanceline Tchanga ◽  
Jacqueline Félicité Yengue ◽  
Godlove Bunda Wepnje ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Pregnancy Outcomes ◽  
Haemoglobin Concentration ◽  
Epidemiological Data ◽  
Adverse Pregnancy Outcomes ◽  
Health District ◽  
Blood Levels ◽  
Childbearing Age ◽  
Adverse Pregnancy ◽  
In Pregnancy

AbstractBackgroundSchistosomiasis is a Neglected Tropical Disease with endemic foci in Cameroon. Epidemiological data on schistosomiasis in pregnancy are scarce in the country. This study is about schistosomiasis among pregnant women in the Njombe-Penja health district, where schistosomiasis was reported since 1969.MethodologyOverall, 282 pregnant women were enrolled upon informed consent at first antenatal consultation. A questionnaire was administered to document socio-economic and obstetric information. Stool and terminal urine samples were collected and analysed using the Kato-Katz/formol-ether concentration techniques and centrifugation method respectively. Haemoglobin concentration was measured with finger prick blood, using a URIT-12® electronic haemoglobinometer.Principal findingsThe overall prevalence of schistosomiasis was 31.91%. Schistosoma guineensis, S. haematobium and S. mansoni infections were found in 0.35%, 04.96% and 28.01% of participants respectively. Co-infection with 2 species of Schistosoma was found in 04.44% of these women. The prevalence of schistosomiasis was significantly higher in younger women (≤20) and among residents of Njombe. All S. haematobium infected women were anemic and infection was associated with significantly lower haemoglobin levels (p=0.02).ConclusionThe prevalence of schistosomiasis is high in pregnant women of the Njombe-Penja health district, with possible adverse pregnancy outcomes. Female of childbearing age should be considered for mass drug administration.Author summaryPregnant women are known to be more vulnerable to infectious diseases and in their case, at least two lives are at risk. Although schistosomiasis remains a major public health issue in Cameroon, epidemiological data on schistosomiasis in pregnancy are scarce. These data are of high interest for informed decision-making. We examined stools and urines from 282 women of the Njombe-Penja Health district and measured their blood levels. Overall, 31.91% of women were infected, mostly younger ones and those living in the town of Njombe. Three species of Schistosoma parasite were identified. Women having urinary schistosomiasis had lower blood levels. These results show that the prevalence of schistosomiasis is high in pregnant women of Njombe. Also, because of the anemia it induces, the disease can lead to adverse pregnancy outcomes on the woman and her foetus. Treating female of childbearing age would cure the disease and prevent adverse outcomes.

scholarly journals Medical and Social Justification of the Implementation of the Optimized Model of Prevention of Genetically Determined Reproductive Losses

2021 ◽  
Vol 6 (1) ◽  
pp. 213-221
Author(s):  
T. D. K. Alieva ◽  
◽  
Keyword(s):  
Folic Acid ◽  
Vitamin B12 ◽  
Birth Defects ◽  
Model Material ◽  
Genetic Maps ◽  
Reproductive Losses ◽  
Optimized Model ◽  
Cycle Disorders ◽  
Genetically Determined ◽  
Folate Cycle

Among the objects of organizational influence of the health care system on reproductive losses, miscarriages and congenital malformations (birth defects) are the most important. Diagnosis of most genetic, chromosomal diseases and malformations of the embryo and fetus is performed using biochemical, cytogenetic, molecular genetic tests and ultrasound diagnostic. Many clinical geneticists focus on birth defects and miscarriages associated with folate cycle disorders related with the greatest number of reproductive losses. We studied levels of homocysteine, folic acid and vitamin B12 in pregnant blood and polymorphic genes C677T MTHFR and A66G MTRR considered due to folate cycle disorders. The purpose of the study was to analyze the organizational aspects of the existing model for the prevention of genetically determined reproductive losses and to propose measures to improve the model. Material and methods. The methods of system approach and analysis, bibliosemantic, prospective, economic, expert assessments provided by the specialty passport (14.02.2003) "Social Medicine" were used for the research. Research period: 2008–2018. Place of research: "Interregional Specialized Medical and Genetic Center – Center for Rare (Orphan) Diseases" of Kharkiv Regional Council. Genetic maps of the archive and own patients, normative-legal acts, data of medical statistics were analyzed. Results and discussion. The study suggested an optimized model for the prevention of genetically determined reproductive losses, which took into account examinations for homocysteine, folic acid, vitamin B12 levels, MTHFR and MTRR genes to find their polymorphism, ultrasound, prevention using diet and vitamin therapy, involving gynecologists, family physicians and clinical geneticists. The principles of accessibility, safety, effectiveness, timeliness, cost-effectiveness, protection of rights and freedoms (non-discrimination), personal orientation, legal basis, cooperation with other medical and non-medical organizations and institutions, prevention character, complexity and variety of forms of physician’s cooperation who provide care to pregnant with reproductive losses in anamnesis, couples planning a pregnancy, newborns with birth defects, chromosomal, genetic diseases and syndromes. The efficient and uninterrupted operation of the developed optimized system is ensured with the participation of "feedback" mechanisms. Adherence to the proposed model will provide an opportunity to significantly reduce reproductive losses in the coming years in Ukraine, provided that its principles are included in the relevant national programs and protocols

scholarly journals CLINICAL-ANAMNESTIC AND MOLECULAR-GENETIC FACTORS IN DIFFERENT FORMS OF HYPERTENSION AND ITS RELATIONSHIP TO COURSE AND PREGNANCY OUTCOMES

2013 ◽  
Vol 68 (11) ◽  
pp. 22-25 ◽  
Author(s):  
V. S. Chulkov ◽  
N. K. Vereina ◽  
S. P. Sinitsyn ◽  
V. F. Dolgushina
Keyword(s):  
Pregnant Women ◽  
Pregnancy Outcomes ◽  
Genetic Factors ◽  
Gestational Hypertension ◽  
Molecular Genetic ◽  
Renin Angiotensin System ◽  
Overweight And Obesity ◽  
Control Group ◽  
Chronic Hypertension ◽  
Adverse Pregnancy

Aim: to assess of the relationship of clinical and molecular genetic factors in the course and outcome of pregnancy in different forms of hypertension in pregnant women. Patients and methods: a total of 125 pregnant women who were divided into the following groups: with chronic hypertension (n =45), with gestational hypertension (n =20), with pre-eclampsia (n =10), superimposed preeclampsia upon chronic hypertension (n =15) and 35 women without hypertension in control group. Results: in pregnant women with chronic hypertension and superimposed preeclampsia upon chronic hypertension were observed higher incidence of overweight and obesity, smoking before pregnancy and family history of hypertension and thrombosis, the course and outcomes of pregnancy characterized by higher frequency of obstetric complications, higher frequency of polymorphisms of genes identified the renin-angiotensin system, folate cycle and endothelial function. Conclusions: Molecular-genetic factors, combined with the factors of cardiovascular risk may make some contribution to the phenotypic realization of pregnancy complications and adverse pregnancy outcomes in pregnant women with different forms of hypertension. 

scholarly journals THE STUDY OF SOCIAL-MEDICAL AND GENETIC RISKS OF REPRODUCTIVE LOSSES

ScienceRise ◽  
2021 ◽  
pp. 41-49
Author(s):  
Tarana Dzhafar Kyzy Alieva
Keyword(s):  
Folic Acid ◽  
Methylenetetrahydrofolate Reductase ◽  
Medical Genetic ◽  
Methionine Synthase Reductase ◽  
Reproductive Losses ◽  
Genes Encoding ◽  
Depth Study ◽  
Genetically Determined ◽  
Folate Cycle ◽  
Technological Product

Object of research: homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle, methylenetetrahydrofolate reductase (MTHFR) and methionine-synthase-reductase (MTRR). Solved problem: an in-depth study of genetically determined risk factor’s influence for reproductive losses associated with homozygous and heterozygous disorders of folate cycle genes. Main scientific results: in-depth study of genetically determined reproductive losses as a systemic phenomenon was held. The structural characteristics of reproductive losses in population and significant predominance of pathology in the pedigrees of those examined with a burdened obstetric history of reproductive losses were determined. Also, a significant increase in the chances of reproductive loss in patients with heterozygous and homozygous inheritance of MTHFR and MTRR genes was determined. A correlation effect on the degree of genomic polymorphism of the MTHFR and MTRR gene was noted. Area of practical use of research results: medical-genetic institutions. Innovative technological product: determination of genetically risk factors for growth of reproductive losses of the population associated with homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle (MTHFR C677T and MTRR A66G). Timely adjustment of folic acid levels allows to prevent birth defects and reduce reproductive losses Scope of application of the innovative technological product: clinical medical-genetic practice using the ability to determine the polymorphism of genes MTHFR and MTRR, which makes it possible to timely adjust the level of folic acid and prevent the reproductive losses.

scholarly journals Selective serotonin reuptake inhibitors use in pregnancy: a risk assessment study using administrative pharmaceutical data

2019 ◽  
Vol 4 (3) ◽  
Author(s):  
Shaun Purkiss ◽  
Tessa Keegel ◽  
Hassan Vally ◽  
Dennis Wollersheim
Keyword(s):  
Pregnant Women ◽  
Pregnancy Outcomes ◽  
Serotonin Reuptake ◽  
Selective Serotonin Reuptake Inhibitors ◽  
Adverse Pregnancy Outcomes ◽  
Serotonin Reuptake Inhibitors ◽  
Selective Serotonin ◽  
Published Data ◽  
Childbearing Age ◽  
Adverse Pregnancy

BackgroundAntidepressant management with Selective Serotonin Reuptake Inhibitors (SSRI) during pregnancy is associated with risks of congenital malformations and adverse pregnancy outcomes. Main AimWe examined the incidence of SSRI use during pregnancy using Australian administrative pharmaceutical data linked to medical service data detailing antenatal consultations to assess pregnancy risk at current levels of treatment. MethodA published data source from the Australian Pharmaceutical and Medical Benefit Schemes was used to identify pregnant women starting new onset treatments with SSRI medications during the provision of antenatal services. A longitudinal profile of SSRI incidence in the pre, peri and post pregnancy periods were constructed to define incident SSRI use. The potential increased burden from adverse pregnancy outcomes was calculated using estimates of risks from the literature. ResultsFrom 2005-2011, 40,778 women were identified to have started de novo SSRI treatments within 10 years of pregnancy (n=172,951). The prenatal monthly incidence of SSRI prescriptions was 25 per 1000 women in 2005 and 7.5/1000 in 2011. During pregnancy, this incidence fell to 7.5 and 4/1000 women in years, and rose above perinatal levels to between 13 and 33/1000 women one year postnatally (X2 p<.001). At these incidence rates, an estimated 2400 women per year receive SSRI’s during pregnancy. In comparison, with non-depressed pregnant women this potentially results in 10 further cardiovascular defects, 94 pre-term births, and 1 still birth annually. ConclusionThis pharmaco-surveillance study has demonstrated continued use of SSRIs in Australian women of childbearing age but diminishing usage during pregnancy. A small number of women continue to be prescribed SSRI during the prenatal period in Australia with risks of adverse pregnancy outcomes.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

Epigenetic factors and molecular markers of the risk of early pregnancy losses

GYNECOLOGY ◽  
2019 ◽  
Vol 21 (3) ◽  
pp. 9-16
Author(s):  
Nataly I Frolova ◽  
Tatiana E Belokrinitskaya
Keyword(s):  
Early Pregnancy ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Pregnancy Complication ◽  
Common Complication ◽  
Epigenetic Factors ◽  
Genetic Determination ◽  
Periconceptional Period ◽  
Combined Impact

Background. Miscarriage is a common complication in early pregnancy. Current studies have shown a higher prevalence of miscarriage, ranging from 10 to 20%. The review is devoted to modern concepts of etiology and pathogenesis of early pregnancy losses. Aim. Assess the role of epigenetic factors and molecular-genetic markers in the pathogenesis and prediction of early pregnancy losses Materials and methods. In order to write this review domestic and foreign publications were searched in Russian and international search systems (PubMed, eLibrary, etc.) for the last 10-15 years. Relevant articles from the peer-reviewed literature and clinical practice guidelines were included. Results. Many recent studies have proved the contribution of various epigenetic factors to the pathogenesis of spontaneous miscarriages, and the molecular-genetic determination such kinds of pregnancy complication has been confirmed. Conclusion. The miscarriage in early gestation is driven by combined impact of epigenetic and molecular-genetic factors, as well as the presence of intergenic interactions. It is may lead to deterioration of physiological functions, and maternal pathologenic pathways could be changed as during her periconceptional period as so during the pregnancy.

Identifying psychosocial determinants related to alcohol consumption during pregnancy: a systematic literature review

2018 ◽  
Author(s):  
Sylvia Roozen ◽  
Gjalt - Jorn Ygram Peters ◽  
Gerjo Kok ◽  
Leopold Curfs
Keyword(s):  
Alcohol Consumption ◽  
Pregnant Women ◽  
Perceived Risk ◽  
Human Subjects ◽  
Meta Analysis ◽  
Univariate Analysis ◽  
Childbearing Age ◽  
Psychosocial Determinants ◽  
Maternal Alcohol ◽  
Maternal Alcohol Consumption

BackgroundFetal Alcohol Spectrum Disorders (FASD) is an important global health problem in need of prevention. For FASD prevention it is important to understand why pregnant women engage or do not engage in drinking alcohol. It remains unknown which psychosocial determinants related to maternal alcohol consumption are most in need of prevention. The objective of this study was to identify these.MethodWe searched in PubMed, PsychINFO, PsychARTICLES, ERIC, CINAHL, EMBASE and MEDLINE databases up to May 2018 using an extensive query consisting of keywords related to pregnancy (e.g., maternal, prenatal), alcohol use (e.g., alcohol, drink) and determinants (e.g., attitude, norm). Studies were excluded when not published in English, were reviews, or involved non-human subjects. Substantial heterogeneity precluded aggregation or meta-analysis of the data. Instead, data were qualitatively inspected.ResultsA total of 23 studies including 150 identified items were eligible for data analysis. Studies covered over 15 psychosocial determinants (e.g., attitude, perceived social norm, risk perception). Studies differed in their operationalizations. As a majority of data was based on univariate analysis, little is known about the relationship with specific drinking behaviors. The majority of studies targeted perceived risk and motivation to comply with each social referents' approval or disapproval. A large proportion of studies focused on disadvantages and risks of maternal alcohol consumption. Results from these studies show that women do not continue to drink because the risks are unknown to them. Cautious interpretation is needed while the observed heterogeneity hindered firm conclusions. Conclusion We aimed to identify all relevant psychosocial determinants of maternal alcohol consumption behavior(s). The state of the literature precludes such conclusions. It remains unknown which determinants are most in need of intervention. It is recommended for future studies to (i) identify all possible psychosocial determinants of drinking during pregnancy using both quantitative and qualitative methods; (ii) include different target groups (e.g., women with unplanned pregnancies, pregnant women, women in childbearing age); (iii) identify key environmental agents; (iv) operationalize their measures based on theoretical models; (v) report specific variables such as the study method and association with behavior.

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