Birth Of Healthy Child Research Articles

Exploring the correlation between homocysteine, red blood cell folate and MTHFRC677T genotypes with female infertility.

Aim: To investigate the association between serum homocysteine (HCY) levels, red blood cell folate (RCF) levels, methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and infertility.Materials & methods: Serum HCY and RCF levels and C677T polymorphism of MTHFR gene were analyzed in 149 infertile patients and 223 women of normal reproductive age with healthy childbirth history.Results: The HCY level of MTHFR C677T TT genotype infertility patients was higher than that of women of normal reproductive age, while the RCF level was not significantly different between the two groups.Conclusion: Serum HCY levels increased in infertility patients, and the MTHFR C677T TT genotype in childbearing-aged women are associated with a higher risk of infertility. The results showed that HCY level and MTHFR C677T genotype were closely related to infertility.

The Relationship between Gymball use and the Duration of Active Phase 1 in Primigravida Mothers

Prolonged labour can cause death, infection, exhaustion, ehydration, and postpartum hemorrhage. In a long fetus, there is a risk of causing infection, injury and asphyxia which can increase infant mortality. prolonged labour can be prevented by doing complementary care, relaxation techniques that relieve prolonged labour and provide healthy childbirth outcomes, yoga, pregnancy exercises and gymball techniques. The purpose of this study is to analyze the effectiveness of gym ball on the duration of 1 active phase of primigravida labor. This type of quasy experimental research was conducted at Pertamina Hospital, Tarakan City, from April to June 2024. The sample in this study was 20 respondents using purposive sampling. The interventions given were gym balls on pelvic rocking movement patterns, rebozo, and child's pose techniques. Bivariate analysis using the chi square test. Multivariate analysis in the form of multiple logistic regression. The results of bivariate analysis showed that there was a significant relationship between the gym ball group and the duration of 1 active phase. This is shown by a p value of 0.020 <0.05.

Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16.

In humans, aneuploidy is incompatible with the birth of healthy children and mainly leads to the death of embryos in the early stages of development in the first trimester of pregnancy. Trisomy 16 is the most common aneuploidy among spontaneous abortions of the first trimester of pregnancy. However, the mechanisms leading to the death of embryos with trisomy 16 remain insufficiently investigated. One of these potential mechanisms is abnormal placental development, including aberrant remodeling of spiral arteries. Spiral artery remodeling involves the migration of trophoblast cells into the maternal spiral arteries, replacing their endothelium and remodeling to ensure a stable embryonic nutrition and oxygen supply. This is a complex process which depends on many factors from both the embryo and the mother. We analyzed the methylation level of seven genes (ADORA2B, NPR3, PRDM1, PSG2, PHTLH, SV2C, and TICAM2) involved in placental development in the chorionic villi of spontaneous abortions with trisomy 16 (n = 14), compared with spontaneous abortions with a normal karyotype (n = 31) and the control group of induced abortions (n = 10). To obtain sequencing libraries, targeted amplification of individual gene regions using designed oligonucleotide primers for bisulfite-converted DNA was used. The analysis was carried out using targeted bisulfite massive parallel sequencing. In the group of spontaneous abortions with trisomy 16, the level of methylation of the PRDM1 and PSG2 genes was significantly increased compared to induced abortions (p = 0.0004 and p = 0.0015, respectively). In the group of spontaneous abortions, there was no increase in the level of methylation of the PRDM1 and PSG2 genes, but the level of methylation of the ADORA2B gene was significantly increased compared to the induced abortions (p = 0.032). The results obtained indicate the potential mechanisms of the pathogenetic effect of trisomy 16 on the placental development with the participation of the studied genes.

THE GENERAL CULTURAL ASPECT OF PROFESSIONAL TRAINING OF STUDENTS BY MEANS OF PHYSICAL EDUCATION

The health of young people is a socially significant category of society, the most important condition for the successful implementation of professional knowledge, skill, creative activity, and performance of future specialists. It has long been an axiom: good physical fitness during student years is the key not only to health and successful mastery of educational material, but also, in the future, highly productive mental and physical labor, the birth of healthy children, active longevity and many positive phenomena associated with this.
 Therefore, physical culture, presented in higher educational institutions as an academic discipline that promotes the harmonious development of the individual, is an integral part of higher education. The program of the discipline “Physical Education” states that the goal of physical education of NTUU “Igor Sikorsky Kyiv Polytechnic Institute” students is the formation of physical culture of the individual and the ability to purposefully use a variety of means of physical culture, sports, and tourism to preserve and improve health, psychophysical training, and selfpreparation for future professional activities.
 The capabilities of physical culture in achieving these goals are determined by the functions it performs biological, informational, aesthetic, communicative, hedonistic, compensatory and several others.
 Along with this, in modern society, physical culture has begun to perform the functions of a social institution that helps the future specialist to navigate well in market conditions. For this purpose, means of physical education are used to develop students' managerial readiness, desire for leadership, and success.
 As a result of combined educational and physical culture-sports activities, students also develop socially significant qualities: social activity, independence, self-confidence, ambition.
 The task of physical education at a university is not only to develop certain physical skills and abilities in students, to increase the level of physical fitness, and to improve physical qualities. During the training process, future specialists must master the system of scientific, practical, and special knowledge necessary to understand the natural and social processes of the functioning of the physical culture of society and the individual.
 This article will help students understand the essence, objectives, goals and possibilities of physical culture and sports in a wide range of their manifestations.

Сучасне уявлення про вплив стресу на імунну систему вагітної

Today, there is increasing attention being paid to mental health, especially in pregnant women who are vulnerable to the risk of mental disorders such as depression, anxiety, and post-traumatic stress disorder. Despite scientific progress, research on the impact of stress on mental health during pregnancy is insufficient. Purpose - to analyze the impact of stress on the immune system of pregnant women. A search and analysis of 78 original studies investigating the impact of stress on the course of pregnancy were conducted. Keywords and article selection criteria were applied. The systematic review included the most relevant studies that met the established criteria. The findings indicate that the immune system plays a significant role in the development of stress-related mental disorders during pregnancy. However, most studies do not establish a clear link between stress, inflammation, and mental disorders in pregnant women. Conclusions. The review highlights the need for further research aimed at understanding the relationship between stress, the immune system, and mental health in pregnant women. This will help develop effective methods for the prevention and treatment of mental disorders in this population, promoting healthy pregnancy outcomes and the birth of healthy children. No conflict of interests was declared by the authors.

ВЛИЯНИЕ ВСПОМОГАТЕЛЬНОЙ РЕПРОДУКЦИИ НА САМОСОХРАНИТЕЛЬНОЕ ПОВЕДЕНИЕ НАСЕЛЕНИЯ

Significance. The introduction of assisted reproductive technologies based on in vitro fertilization into public health practice eliminates the direct impact of reproductive pathologies on individual childbearing, yet raises questions about which elements of reproductive health have the greatest impact on decision-making about giving birth to a child and how their role in self-preservation behavior is changing. The purpose of the study is to identify the main directions of the influence of modern methods of assisted reproduction on self-preservation behavior of the population. Material and methods. Based on open data from official and sectoral Russian and foreign statistics, as well as materials from Russian and English-language scientific publications, the analysis of the main indicators characterizing changes in self-preservation behavior under the influence of assisted reproductive technologies was carried out. The use of secondary sociological information and certain results of the current author's survey of medical university students made it possible to determine the prospects of assisted reproduction as an external factor of reproductive health. Results. A generalizing characteristic of reproductive health disorders is infertility, while assisted reproduction based on in vitro fertilization has been the most effective method of correction for almost half a century. Continuous improvement of assisted reproductive technology programs has made them a modern factor of self-preservation behavior, creating opportunities for the birth of healthy children not only in case of infertility, but also in case of subfertility against the background of chronic non-communicable diseases, as well as in case of inhibition of reproductive function after cancer treatment. As the availability of assisted reproduction programs expands, they began to be used as an alternative conception and have even indirectly influenced contraceptive behavior, leading to the choice in favor of comfortable, yet previously considered irreversible, sterilization. This determines the social and medical prospects of assisted reproductive technologies, however, an obstacle to their practical implementation may be the cost, which in Russia far exceeds the financial standards of in vitro fertilization under compulsory health insurance. Conclusion. The study showed the main current trends and extended scope of the impact of assisted reproduction on self-preservation behavior. Due to decrease in the number and health deterioration of the health of the population of reproductive age, a decrease in the birth rate becomes an urgent national challenge, which increases the importance of births that are impossible without the use of assisted reproductive technologies. This is especially important against the background of the increase in non-communicable diseases, leading to subfertility, and “social infertility” without reproductive pathologies, which are successfully corrected with in vitro fertilization. However, the commercialization and information popularization of assisted reproductive technology programs create inflated expectations among a certain segment of the population who expect to become parents at any age, regardless of health status. There are new requirements for official justification of indications and contraindications to in vitro fertilization, on the one hand, and for a more accurate account of individual reproductive capabilities of self-preservation behavior, on the other.

The Effect of Alarm Use on the Awareness of Taking Iron Supplements (Haemoglobin Levels) as a Prevention of Haemorrhagic Postpartum

Anemia is one of the indirect causes of Postpartum Hemorrhage (HPP) during childbirth. The development of iron supplement alarm reminders can be used as an alternative intervention to increase awareness and consumption of iron supplements as a preventive measure against HPP. This study aims to analyze the Effect of Alarm Usage on Awareness in Consuming Iron Supplements (Hemoglobin Levels) as a Prevention of HPP in the Working Area of the Tempurejo Community Health Center, Jember Regency. The research employs a one-group pre-post-test design (pre-experiment) with a cross-sectional approach involving 30 respondents through Accidental Sampling. Data collection includes coding, editing, tabulation, and subsequent manual and computer-based analysis using Paired T-Test. Among the 30 respondents, the awareness of taking iron supplements before using the alarm showed non-compliance in 22 respondents (73.3%) and compliance in only 8 respondents (26.7%), with all 30 (100%) pregnant women experiencing anemia, either moderate (73.3%) or mild (26.7%). After the alarm was used, the number of respondents aware and compliant in taking iron supplements increased to 27 respondents (90%), with only 3 respondents (10%) remaining non-compliant. This was also indicated by an increase in normal Hb levels in 18 respondents (60%). The P-value was 0.000 and a = 0.05, meaning r < a, indicating the influence of alarm usage on awareness in consuming iron supplements (hemoglobin levels) as a preventive measure against HPP. This is crucial for pregnant women to regularly consume iron supplements for safe and healthy childbirth. Midwives should consistently remind pregnant women to consume a minimum of 90 supplements during pregnancy and adapt to technological advancements by using gadgets familiar to the community

A - 89 Cognitive Evaluation of Suspected Wernicke- Korsakoff's Encephalopathy in a Woman with Complicated Hyperemesis Gravidarum.

Wernicke-Korsakoff syndrome (WKS) is a neurological disorder caused by the lack of thiamine (vitamin B1) and includes Wernicke encephalopathy and the later stage of Korsakoff amnesic syndrome. WKS could be secondary to malnutrition, including Hyperemesis Gravidarum (HEG), which is characterized by severe vomiting during pregnancy. We present a case of HEG resulting in suspected WKS where neuropsychological evaluation clarified cognitive status with complex cultural, language, and educational factors. Repeat evaluations of a 29-year-old West-African* woman with mental status change, decreased verbal output, agitation, and inability to walk in the context of HEG. Initially referred for inpatient neuropsychological evaluation at 21weeks gestation. MRI demonstrated mild diffuse cerebral atrophy and symmetric foci of T2 FLAIR hyperintensities in periaqueductal gray matter, hypothalamus, bilateral thalami, perirolandic cortex, and bilateral mammillary bodies. Initial inpatient testing with a face-to-face language congruent interpreter demonstrated notable multidomain impairment. Possible Intellectual Disability was considered by the referring team and test performances. Attempts at re-evaluation were limited by medical complications and prolonged hospitalization. Repeat inpatient evaluation 5months later following birth of healthy child and initiation of stimulant medication, demonstrated profound memory impairment but otherwise improved cognitive capacity and engagement. Results aided in discharge planning including cognitive remediation with goal of improving functional independence. Wernicke-Korsakoff syndrome due to Hyperemesis Gravidarum is an uncommon but known complication that can have profound acute and long-term consequences. This case demonstrates that repeat neuropsychological evaluations can clarify cognitive status in complex medical/cultural/language situations. *(country of origin and primary language not provided for patient privacy).

Healthy Childbirth Model Based on Husband's Support in Poor Families in Deli Serdang, North Sumatra Province, Indonesia

Healthy Childbirth Model Based on Husband's Support in Poor Families in Deli Serdang, North Sumatra Province, Indonesia

O-079 Perinatal and postnatal outcomes up to the third year of life after the transfer of mosaic embryos compared with euploid embryos

Abstract Study question Are perinatal and postnatal outcomes different following the transfer of blastocysts diagnosed as low-grade mosaic compared to euploid embryos? Summary answer Our study did not show any significant difference between children conceived after transferring low-grade mosaic versus euploid embryos regarding perinatal outcomes and physical health. What is known already A considerable percentage of embryos are classified as mosaic in IVF-cycles with preimplantation genetic testing for aneuploidy (PGTA). Although societies, such as Preimplantation Genetic Diagnosis International Society (PGDIS), have proposed recommendations for the transfer of these embryos, there is no worldwide consensus on the classification, especially in terms of the level of mosaicism, and their clinical management. There are studies on clinical outcomes in terms of implantation and pregnancy, and some of them have reported the birth of healthy children. However, studies evaluating perinatal outcomes and, physical health and development during childhood are limited. Study design, size, duration This retrospective cohort study includes 172 children born after the transfer of a single embryo analysed with PGT-A using next-generation sequencing (NGS), between October-2017 and August-2022. Children were divided into two groups, according to whether they were classified as euploid (n = 115) or mosaic embryo (n = 57) after PGT-A. All mosaic embryos carried a level of mosaicism below 50%. Data related to the level of mosaicism, number of chromosomes involved or type of alteration were reviewed. Participants/materials, setting, methods This study analyses clinical parameters/outcomes during gestation, birth and postnatal period, including prenatal test, pregnancy and delivery complications, type of delivery, breastfeeding, incubator/neonatology stay, congenital anomalies, maternal and gestational age, birth weight, height and head circumference, Apgar-score and health problems or chronic diseases until today. The oocyte/sperm age and their origin were also analysed. The differences between groups were evaluated by R (4.2.0). In children from mosaic embryos, postnatal karyotyping was offered to the parents. Main results and the role of chance According to mosaicism characteristics, 61.4% of embryos had 25-39% of mosaicism and 38.6% had 40-50%, 82.5% had one chromosome affected and 17.5% two chromosomes. No significant differences were observed between the euploid and mosaic groups in pregnancy and delivery complications, type of delivery and gestational age (39.22±1.92 weeks in euploid group vs 39.00±1.78 in mosaic), however maternal age was higher in mosaic group (40.07±3.32y vs 38.27±3.06y, p < 0.001). Regarding newborn parameters, no differences were reported in birth weight, height and head circumference in euploid group compared to mosaic group (3222±581 vs 3227±530g, 49.92±2.67 vs 50.13±2.65cm, 34.50±1.87 vs 34.50±1.86cm; p > 0.05), neither in the Apgar-score (8.58±2.48 vs 8.96±1.79, p > 0.05) nor in the incubator/neonatology stay. With regard to congenital anomalies, their incidence was similar in both groups (8.7%, euploid vs 7.0%, mosaic) and in all cases were minor anomalies. No health problems/chronic diseases were recorded in either group, with the average age of the child at present being 3.48±0.81y in euploid group and 2.92±1.32y in mosaic. Prenatal testing was higher in the mosaic group, being carried out in 49.1% of pregnancies (23 non-invasive test and 4 amniocentesis) with normal result. Moreover, postnatal karyotype was performed in 6 children from mosaic group with normal result. Limitations, reasons for caution This study was limited by the sample size. Further larger studies are needed to ensure that the health outcome of children conceived after low-grade mosaic embryo transfer is comparable with children conceived after euploid embryo transfer. Wider implications of the findings Data following the transfer of blastocysts diagnosed as mosaic remain limited, especially in terms of neonatal/early-childhood outcomes. Our study suggests that the transfer of low-grade mosaic embryos lead to healthy children and provides further perinatal and postnatal clinical data. The normal prenatal/postnatal karyotype in the analyzed cases provides further reassurance. Trial registration number Not applicable

Management of perinatal care during the COVID-19 pandemic in Ukraine: organizational and legal mechanism

Introduction. The topic of maternity and childhood care is one of the most important in the health care system of Ukraine, given the importance of the issue of the birth of healthy children – the future potential of an independent state. At the beginning of the era of implementation of the Sustainable Development Goals, the morbidity and mortality of women during pregnancy and childbirth remained unacceptably high. Most of them could have been prevented. The 2019 coronavirus disease (COVID-19) pandemic significantly changed the way of life of most people and disrupted the work of specialized health care systems. Therefore, anticipating the possibility of repeated pandemics, it is necessary to analyse the experience of the functioning of the medical field at this stage and justify new approaches to the organization of high-quality medical perinatal care in the conditions of possible repeated outbreaks of infection. Isolation of previously unresolved parts of the general problem. Although there is much published scientific literature on various aspects of the organization of perinatal care, there is almost no literature on how management approaches to women's routine prenatal care have changed and how the system has been reorganized during the pandemic in Ukraine. Results. The effectiveness of Ukrainian health care system, which has historically been built on face-to-face interactions between patients and health care providers, has suffered severely. And it is not only in Ukraine. Healthcare systems of all countries, especially those with limited financial resources, are facing a challenge. Pregnant women are particularly vulnerable to respiratory pathogens due to physiological changes in the immune and cardiorespiratory systems and may be at increased risk of severe disease. In this regard, it is extremely important to reorganize the system of prenatal visits not only to reduce the possibility of contact of a healthy pregnant woman with infected people, but also to minimize the contact of medical workers with patients who may be infected. International experience shows that during this COVID-19 pandemic, some countries have decided to reduce the number of in-person antenatal visits to only three (for example, Australia) or four (as recommended by the WHO) for low-risk women throughout pregnancy. For Ukraine, a model of prenatal care has also been proposed as a quick response to combating the spread of infection. According to this model, when monitoring a pregnant woman in an outpatient setting, all consultations that do not require testing and ultrasound should be conducted remotely (video consultations or telephone consultations). Pregnant women must be referred to a specialized maternity hospital, designated by the Department of health care of Regional State Administration, to provide assistance to pregnant women with suspected or confirmed COVID-19 infection in clearly defined cases. We emphasize: the main conditions for the introduction of such a model in Ukraine are a well-established system of medical services using telemedicine, as well as a well- thought-out information campaign. And the foundations for its implementation are already laid in the branch state policy and legislation. In the event of an epidemic or an outbreak of an infectious disease, the media, regardless of the form of ownership, assist the executive authorities and local self- government bodies in carrying out the necessary explanatory work among the population, regarding the dangers of self-medication. According to the results of our study, conducted based on the Lviv Regional Clinical Perinatal Centre, in which 535 women in labour were interviewed, it was established that 22 percent of the surveyed women took medication for the prevention of COVID-19. Conclusion. Health care facilities should develop plans to minimize exposure to healthy pregnant women while continuing to provide both routine and emergency obstetric care. Telemedicine can play an important role in updating healthcare systems during the outbreak of COVID-19 cases. Even though such digital technologies have existed for decades and are already at the advanced stage of implementation in some areas, they are still minimally studied for obstetric care. Therefore, the following key components are needed to rapidly deploy an antenatal care model in response to the COVID-19 pandemic: 1) a locally approved antenatal care program; 2) a developed algorithm for monitoring pregnant women with suspected or confirmed diagnosis of COVID-19; 3) provision of equipment and Internet supply to healthcare institutions; 4) staff training; 5) informing the population.

RISK FACTORS OF UMBILICAL CORD PATHOLOGY AND FACTORS OF NEGATIVE PERINATAL CONSEQUENCES AND NEWBORN INCIDENCE

According to literature sources, the real frequency of many umbilical cord pathologies differs significantly from the statistical data indicated by researchers in their works (from 15% to 38%). The implementation of a system of diagnostic and treatment and preventive measures, based on mandatory antenatal and postnatal assessment of the features and characteristics of the umbilical cord, allows to improve perinatal outcomes and reduce perinatal morbidity. The aim of the work was to identify the main risk factors of umbilical cord pathology and negative perinatal consequences; to develop elements of standardization of antenatal and postnatal diagnosis of umbilical cord pathology. Research materials and methods. A retrospective assessment of medical documentation data (3,280 individual medical records of pregnant women) made it possible to establish the frequency of umbilical cord pathology in the population. In the future, a more detailed extended antenatal and postnatal examination of the umbilical cord and placenta after delivery was carried out in 637 patients of reproductive age with pregnancy complicated by pathology of the umbilical cord (main group). The control group was formed by 40 patients with an uncomplicated course of pregnancy and live birth of full-term healthy children. The study was conducted taking into account the main principles of the Helsinki Declaration on Biometric Research and the powers of the GCH ICH, in accordance with biometric norms with compliance with the principles of confidentiality and ethics (excerpt from protocol No. 128/22 of the meeting of the Bioethics Commission dated September 29, 2022, Ivano-Frankivsk National Medical University, Ministry of Health of Ukraine).Data analysis was performed using the Statistica 7.0 package of statistical programs (StatSoftInc., USA). The association of independent variables with the condition being studied is presented as odds ratio (OR) and 95% confidence interval (CI).The materials of the article are the result of the research of the complex research work fragment of the Department of Obstetrics and Gynecology named after I.D. Lanovyi of the Ivano-Frankivsk National Medical University: “Development of diagnostic tactics and pathogenetic substantiation of effective methods of preserving and restoring reproductive potential and improving parameters of a woman’s quality of life in obstetric and gynecological pathology” (state registration number 0121U109269, implementation dates 2021-2026 ), the author is a co-executor of the topic.Research results and their discussion. The following data were noted: an excess of the population norm of the length of the umbilical cord, a high proportion of eccentric and marginal insertion of the umbilical cord (22.14%) and umbilical cord coiling (33.28%), a decrease in the proportion of the reference limits of the umbilical cord tortuosity index (15.86%), in 56.7% of observations, the specific gravity of the umbilical cord was lower. Probable risk factors for umbilical cord pathology with a predominance of age over 35 years, nicotine addiction in pregnant women, multiple fertility, use of IVF programs, change in the amniotic fluid index, overweight and obesity, other clinical conditions associated with metabolic disorders (gestational diabetes, insulin resistance) were identified. Conclusion. The share of the umbilical cord pathology both in the isolated type and in the combination of characteristic features of the umbilical cord is 40.98%. The increase in the risk of negative perinatal consequences has a close relationship with the umbilical cord pathology and the combination of different types of pathology, as well as the addition of gestational complications, which allows for the formation of screening programs and optimization of the diagnostic algorithm.

МОРФОЛОГИЧЕСКАЯ ХАРАКТЕРИСТИКА РУБЦОВОЙ ТКАНИ ПОСЛЕ КЕСАРЕВА СЕЧЕНИЯ ПРИ НЕБЛАГОПРИЯТНЫХ ПЕРИНАТАЛЬНЫХ ИСХОДАХ

Objective: to evaluate changes in the morphology of scar tissue tissues after cesarean section with unfavorable perinatal outcomes in the consecutive pregnancy. Materials and methods. A morphological study of a resected scar on the uterus after a previous cesarean section was performed. The main group (n=28) included samples of scar tissues of patients in case of unfavorable perinatal outcomes; the comparison group (n=32) included biological samples of 32 pregnant women at birth of healthy newborns with an Apgar score of 7 or more points and no signs of physiological immaturity and fetal growth retardation. Results. In case of unfavorable perinatal outcomes significantly more often uneven and/or weak blood filling of the microvasculature was determined (p=0,0483 and p=0,0492 respectively) in the area of scar tissue regarding to the group of women at the birth of healthy children. In contrast, the comparison group is characterized by a significantly larger number of sections with neoangiogenesis (p=0,0452). The most significant difference in the histological pattern of the scar tissue of the comparison groups was the presence of moderate diffuse intermuscular stroma edema: in 85,7% of the samples of the main group and in 56,3% of the comparison group (p=0,0173). Conclusion. It can be assumed that the formation of placental dysfunction with an outcome of unfavorable perinatal outcomes in patients with a scar on the uterus after cesarean section is preceded by a violation of the formation of an adequate uterine structure in the scar area due to local microcirculation dysfunction.

Legal estimation of adverse effects of genome technologies applied to embryos

By manipulating the genome, it is possible to correct hereditary diseases in humans. Ensuring the birth of healthy children by diagnosing and selecting, for in vitro fertilization, an embryo that does not contain a pathogenic mutation is a serious prospect in modern genomic research. However, the legislative approaches of states towards this issue remain very ambiguous due to the complexity of the ethical and legal sides of this problem. We believe that a single consensus international position should be adopted on the issues of intervention in the human genome, otherwise permission to conduct in one country may lead to negative reactions in other states and lay criminal risks in this area.

Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia.

β-thalassemia is an autosomal recessive disease with the reduction or absence in the production of β-globin chain in the hemoglobin, which is caused by mutations in the Hemoglobin subunit beta (HBB) gene. In Vietnam, the number of β-thalassemia carriers range from 1.5 to 25.0%, depending on ethnic and geographical areas, which is much higher than WHO's data worldwide (1.5%). Hence, preimplantation genetic diagnosis (PGD) plays a crucial role in reducing the rate of β-thalassemia affected patients/carriers. In this research, we report the feasibility and reliability of conducting PGD in combination with the use of short tandem repeat (STR) markers in facilitating the birth of healthy children. Six STRs, which were reported to closely linked with the HBB gene, were used on 15 couples of β-thalassemia carriers. With 231 embryos, 168 blastocysts were formed (formation rate of 72.73%), and 88 were biopsied and examined with STRs haplotyping and pedigree analysis. Thus, the results were verified by Sanger sequencing, as a definitive diagnosis. Consequently, 11 over 15 couples have achieved pregnancy of healthy or at least asymptomatic offspring. Only three couples failed to detect any signs of pregnancy such as increased Human Chorionic Gonadotropin (HCG) level, foetal sac, or heart; and one couple has not reached embryo transfer as they were proposed to continue with HLA-matching to screen for a potential umbilical cord blood donor sibling. Thus, these results have indicated that the combination of PGD with STRs analysis confirmed by Sanger sequencing has demonstrated to be a well-grounded and practical clinical strategy to improve the detection of β-thalassemia in the pregnancies of couples at-risk before embryo transfer, thus reducing β-thalassemia rate in the population.

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype

The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms, and phenotypes. In recent years, the prevention of mtDNA-related diseases has trended toward precision medicine strategies, such as preimplantation genetic diagnosis (PGD) and mitochondrial replacement therapy (MRT). These techniques are set to allow the birth of healthy children, but clinical implementation relies on thorough insights into mtDNA genetics. The genotype and phenotype of m.3243A>G vary greatly from mother to offspring, which compromises genetic counseling for the disease. This review is the first to systematically elaborate on the characteristics of the m.3243A>G mutation, from genetics to phenotype and the relationship between them, as well as the related influencing factors and potential strategies for preventing disease. These perceptions will provide clarity for clinicians providing genetic counseling to m.3243A>G patients.

POS1336 BEHCET’S DISEASE AND PREGNANCY OUTCOMES

BackgroundBehcet’s disease (BD) is multisystemic disease of unknown cause. The relationship between BD and pregnancy is reported in limited number of studies.ObjectivesTo evaluate outcomes of pregnancies in BD patients (pts).MethodsWe retrospectively collected data of 45 women with BD diagnosis (according to ISGBD 1990 and ICBD 2014) and their 118 pregnancies. Pts’ mean age was 31,3 [27;35] years., disease duration 6,0 [3;8] years. 11,1% pts had severe BD according to Ch.Zouboulis classification (due to generalized uveitis, retinal vasculitis and parenchymatous CNS lesions), 31,1% pts had a moderate disease, 57,8% pts had a mild disease with mainly dermal-mucous manifestations.Results118 pregnancies in 35 pts resulted in 75 live birth (6 cesarean section in 3 pts). Thirty-nine incomplete pregnancies were observed in 26 patients. Ten patients had 20 medical abortions on request before 12 weeks of gestation, one patient had an abortion due to medical reasons (rubella on the 7 th week of gestation), two patients had premature birth at 28 and 32 weeks with subsequent perinatal death of the baby. Fifteen out of 35 pts had 20 adverse pregnancy outcomes: 8 spontaneous abortion, 12 missed miscarriage. Nine patients had 12 Missed miscarriage at 6-11 weeks of gestation, one patient had 3 missed miscarriage, two had 2, and the others had 1 missed miscarriage. Six patients had 8 spontaneous abortions (early miscarriage). In the control group of 15 women, 7 had 15 pregnancies, 13 live birth of healthy children on time. Table 1 presents a comparison of pregnancy outcomes in patients with BD and healthy control.Table 1.Pregnancy outcomesPregnancy, nBD, n=118 (%)Control, n=15 (%)pBirth77 (65)13 (87)0,01Abortion21 (18)00,00Unfavorable pregnancy outcome20 (17)2 (13)nsMissed miscarriage12 (10)0nsSpontaneous abortion8 (7)2 (13)nsPatients with BD were more likely to terminate pregnancy of their own volition compared to control group. All women with unfavorable pregnancy outcomes are re-pregnant, have healthy children born on time, all had a second or subsequent pregnancy with an unfavorable outcome. Immunosuppressive therapy of BD was not received by any of the pregnant women, which makes it possible to exclude the connection of the outcome of pregnancy with BD therapy.The manifestation of BD with skin-mucous lesion of the patient in the first and third trimester of pregnancy was noted by 3 patients. In one patient, the appearance of a recurrent ulcer on the vulva was an indication for cesarean section.Only three women had one favorably completed pregnancy, all the others had from 2 to 7 pregnancies. Out of 45 patients, 10 patients did not have pregnancies, 9 of them are not married, 1 patient is planning a pregnancy.Table 2 shows the frequency of pregnancy pathology with varying degrees of severity of BD.ConclusionPatients with BD were more to terminate pregnancy compared to control group. Unfavorable outcomes of pregnancy were documented in pts regardless (with all grades of) BD severity.

Predictors of the utilisation of continuum of maternal health care services in India.

BackgroundUtilisation of continuum of maternal health care services is crucial for a healthy pregnancy and childbirth and plays an important role in attaining Universal Health Coverage (UHC) and Sustainable Development Goals (SDGs) related to maternal and child health. This paper aims to assess the percentage of dropouts across various stages of utilization of continuum of maternal health services (CMHS) in India and also investigates the factors hindering the utilization of these services.MethodsWe used recent data from National Family Health Survey(NFHS) encompassing a total sample of 1,70,937 pregnant women for the period 2015–16. The percentage of women dropping out while seeking maternal health care is measured using descriptive statistics. While, the factors impeding the utilization of maternal health services is estimated using a Multinomial Logistic Regression Model, where dependent variable (CMHS) is defined as complete care, incomplete care and no care.ResultsOnly17% of pregnant women availed the utilisation of complete care and 83% either did not seek any care or dropped after seeking one or two services. For instance, it is found that 79% of women who registered for antenatal care services (ANC) did not avail the same adequately. An empirical investigation of determinants of inadequate utilization of CMHS revealed that factors like individual characteristics, for instance- access to media (RRR: 2.06) and mother’s education play (RRR: 3.61) a vital role in the uptake of CMHS. It is also found that the interaction between wealth index and place of residence plays a pivotal role in seeking complete care. Lastly, the results revealed that male participation (RRR: 2.69) and contacting multi-purpose worker (MPW) (RRR: 2.33) are also at play.ConclusionThe study suggests that the major determinants of utilisation of CMHS are access to media, mother’s education, affordability barriers and male participation. Hence, policy recommendations should be oriented towards strengthening these dimensions and the utilisation of adequate ANC has to be considered as the need of the hour.

Reaching the unreached: Sri Sathya Sai Sanjeevani Centres for child heart care

Learning outcomes Need for preventive health care: To comprehend the contribution of preventive health care in improving the health quotient. Sri Sathya Sai Sanjeevani Hospital (SSSSH) and its initiative is an apt example of the wonder which preventive care can bring in the context of rural health. Community participation: The case can be instrumental in showing the pathway to encourage community involvement in mainstream health by promoting the holistic model of SSSSH that understands mothers and children's health profile and needs, especially in the unreached rural segments of an emerging economy like India. Importance of healthy childhood: World Health Organization (WHO) promotes the school health programme to prevent health risks among children by inculcating healthy behaviours during childhood. The successful SSSSH model proves that it is implementable by integrating comprehensive health education modules in the existing institutions for medical care. Case overview/synopsis The challenge of a healthy childhood is inadequate availability and accessibility of quality care. Non-awareness of the parents is also a significant reason for the children who miss the benefit of a happy childhood. While much is planned by the Government and some part of it being executed, this case highlights the effectiveness of the maternal and child health programme executed by the Sri Sathya Sai Sanjeevani Hospital (SSSSH). This initiative fulfills the dire need of ensuring the preventive healthcare component leading to safe motherhood and safe birth of healthy children. Further, the case is also the culmination of pin-pointed innovative awareness activities such as school health screening and the Divine Mother and Child Health Program (DMCHP). It opens up the discussion on the current model of health care followed by SSSSH, Raipur, and its impact in the local areas to decide on its expansion across the country for nationwide implementation. Complexity academic level Bachelors in Business Administration, MBA, Executive MBA, Post Graduate Diploma in Healthcare Management Supplementary materials Teaching notes are available for educators only. Subject code CSS 2: Built Environment.

Понтоцеребеллярная гипоплазия типа 2А

Objective of the Paper: Show the importance of genetic diagnosis in children with movement disorders. Key points. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of autosomal recessive neurodegenerative diseases. They are characterized by a beginning in the prenatal period, a slowdown in the growth of the cerebellum, frontal and occipital cortex of the cerebral hemispheres, and microcephaly. The disease manifests itself from birth and is steadily progressing. PCH2A is the most part of the described variant of the disease. It is characterized by moderate respiratory disorders, swallowing disorders, dyskinesia at rest, choreic hyperkinesias, muscle spasticity, pharmacoresistant epilepsy and progressive microcephaly. To date, about 80–100 cases have been described. An own observation of a patient with pontocerebellar hypoplasia of type 2A is presented. The girl noted a slowly progressive violation of motor, speech and mental development of a severe degree of severity, epileptic seizures and extrapyramidal paroxysms. Conclusion. Timely genetic diagnosis in children with the phenotype of microcephaly and cerebral palsy allows reaching an etiological diagnosis, determining treatment tactics, rehabilitation prognosis and helps in the future to plan the birth of healthy children in the family. Keywords: pontocerebellar hypoplasia type 2A, TSEN54 gene, secondary paroxysmal dyskinesia, cerebral palsy, epilepsy, prognosis.