scholarly journals Certain historical, practical and scientific aspects of prenatal diagnostics in st. Petersburg

2004 ◽  
Vol 53 (1) ◽  
pp. 82-88
Author(s):  
V. S. Baranov
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Research Methods ◽  
Rapid Growth ◽  
Medical Genetics ◽  
Practical Significance ◽  
Non Invasive ◽  
Methodological Problems ◽  
Biochemical Research ◽  
Selection Of

Prenatal diagnosis (PD), as a relatively new area of ​​medical genetics, is experiencing a period of rapid growth. Methodological problems of PD associated with the selection of women at high risk of congenital and hereditary pathology, complex examination of the fetus using non-invasive (ultrasound) and invasive (cytogenetic, molecular, biochemical) research methods have already been resolved. Further increase in the effectiveness of PD, its scientific and practical significance depends entirely on the level of organization of this service in the field and its funding. An important role in the development of modern PD in Russia was played by the PD laboratory of the N.I. BEFORE. Otta RAMS.

Early non-invasive selection of patients at high risk of severe hepatitis C recurrence after liver transplantation

2016 ◽  
Vol 18 (3) ◽  
pp. 471-479 ◽  
Author(s):  
G. Crespo ◽  
M. Gambato ◽  
O. Millán ◽  
G. Casals ◽  
P. Ruiz ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Hepatitis C ◽  
High Risk ◽  
Severe Hepatitis ◽  
Non Invasive ◽  
Hepatitis C Recurrence ◽  
Selection Of Patients ◽  
Selection Of

scholarly journals Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women

2019 ◽  
Vol 7 (14) ◽  
pp. 319-319 ◽  
Author(s):  
Jing Wang ◽  
Zhi-Wei Wang ◽  
Qin Zhou ◽  
Bin Zhang ◽  
Ting Yin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Wybrane problemy metodologiczne badań procesów globalizacji

2008 ◽  
Vol 11 ◽  
pp. 107-115
Author(s):  
Stanisław Sala
Keyword(s):  
Social Sciences ◽  
Research Methods ◽  
Systematic Approach ◽  
Social Economic ◽  
Homogeneous Process ◽  
The Social ◽  
Interdisciplinary Problems ◽  
Methodological Problems ◽  
The Subject ◽  
Selection Of

The paper presents an attempt to identify methodological problems in the research into the processes of globalization. Originally globalization was treated as a homogeneous process, leaving its impress on the ground of economic and social sciences. Later, however, scientists realized that globalization triggers a lot of processes, part of which are known, but many of which we are not aware of. In this context, it is more proper to write and talk not about globalization but about the processes of globalization. The author understands the processes of globalization as a whole of the processes which occur on the social- economic and political plane. The processes lighten mutual connections between countries, regions or single people, and their consequences. According to the author, the main problems in the research into processes of globalization are: problems with defining the subject of research, lack of proper methodology and methods of research, interdisciplinary problems and problems with objectivity of facts. The selection of proper research methods to conduct the research into the processes of globalization poses a lot of difficulties. They result from the fact that geography has worked out a lot of detailed research methods, used to describe quantitative phenomena, which are the essence of globalization, using qualitative methods. At this stage of research, the essence of globalization can be captured by using systematic approach in an idiographic sense.

scholarly journals Prospective areas of didactic research: А problem statement.

2020 ◽  
Vol 22 (10) ◽  
pp. 61-89
Author(s):  
M. V. Klarin ◽  
I. M. Osmolovskaya
Keyword(s):  
Research Methods ◽  
Educational Practice ◽  
Research Area ◽  
Educational Process ◽  
Practical Significance ◽  
Educational Practices ◽  
Scientific Validity ◽  
Wide Range ◽  
Research Problems ◽  
Selection Of

Introduction. Current educational practice largely functions independently of didactics: decisions on the selection of content, the methods and forms of instruction are often made at different levels and in different areas of education without a conceptual substantiation. This does not necessarily mean the educators’ lack of knowledge, it rather points at the urgency of updating didactic research, including objects and phenomena that are relevant and have not been extensively studied yet.The aim of the present publication is to pose relevant problems of didactic research, based on the challenges rooted in the development of educational practice.Methodology and research methods. This research is based on systemic, interdisciplinary, and anthropological approaches. Research methods include analysis, synthesis, systematisation, modelling, idealisation, forecasting.Results. The authors state the need to expand the range of issues covered by didactic research. Additionally, the authors highlighted didactic research problems related to learning across all levels of the educational ladder, to a wide range of contexts of educational practice: psychological and didactic characteristics of a modern agent of learning; didactic foundations for the selection of educational content in the context of the transformation of the educational environment of the digital era; the expansion of conceptual and terminological toolbox of didactics; contextual features of didactic principles in diverse areas of educational practice; didactical aims and functions of non-traditional learning formats; didactic foundations and the range of the teacher’s roles in various learning formats; the development of didactics for teacher training.The directions of promising didactic research are identified. The authors conclude the necessity for broadening research area to cover problems facing didactics: inclusion of phenomena and processes that were left out of the scope of traditional didactic research; enhancing the role of interdisciplinary research on learning, enhancing the versatility of didactic concepts and their scientific validity; a didactic study of specific innovative educational practices, identifying the feasibility and possibilities of their dissemination in different areas of education.Scientific novelty. The article describes educational practices, which are not covered by didactic studies. The authors identify and present conceptual gaps, which challenge didactics to expand and enrich its conceptual toolkit. Several paradoxes are highlighted as conceptual contradictions, which indicate the gaps in modern didactic knowledge: paradoxes of the learning actor, of learning outcomes, of teacher expertise. These paradoxes prompt to update didactics as the theory of education.Practical significance. The development of didactics in the areas considered in the article will make it possible to improve the educational process on a theoretically verified basis, enhance opportunities, to reduce the risks, and to increase the effectiveness of innovations.

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

scholarly journals Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

2020 ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Abstract Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.

scholarly journals Analysis of Prenatal Diagnosis Results and Pregnancy Outcome of Non-invasive Prenatal Screening High-risk Fetuses

2020 ◽  
Author(s):  
Yan Luo ◽  
Yanmei Sun ◽  
Haishen Tian ◽  
Hezhen Lu ◽  
Lishuang Ma ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Clinical Significance ◽  
Prenatal Screening ◽  
Trisomy 13 ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive ◽  
Chromosomal Karyotype

Abstract BackgroundWith the development of whole-genome sequencing, small chromosomal deletions and duplications could be found by NIPT. This study is to evaluate the clinical significance of fetal chromosomal karyotype analysis and chromosomal microarray analysis (CMA) to clarify the clinical significance of 528 cases of high-throughput sequencing noninvasive prenatal screening suggesting high-risk cases. MethodsNon-invasive prenatal screening showed that the fetus 21, 18, 13, sex chromosomes, and other chromosomes are at high risk of aneuploidy and fetal chromosome copy number variations (CNVs) are at high risk, requiring prenatal diagnosis Pregnant women are the research objects. After obtaining informed consent, fetal cells were obtained by amniocentesis or umbilical vein puncture for chromosomal karyotype and CMA analysis. All cases of childbirth were followed up by telephone over a period of 1 year.Results Among 528 fetuses, 447 were at high risk of aneuploidy. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 85.24%, 51.52%, 12.5%, 50.82%, and 5.88% respectively. Another 81 cases of non-invasive prenatal screening suggest CNVs High risk. The PPV for CNVs was 34.57% .Among them, CNVs has a clear pathogenic significance can reach 24.69% . Follow-up of childbirth cases: Of the 62 pregnant women diagnosed with fetal SCA, 13 chose to continue their pregnancy, and the overall continued pregnancy rate was 20.97% (13/62); CNVs has no clear significance/no disease reported in 8 cases, 1 case After being lost to follow-up, all 7 cases chose to continue their pregnancy. One of the children was not informed about the specific situation; one girl had six fingers on both hands, and the rest had no abnormal growth; the remaining five children developed normally. ConclusionThis study has obtained relatively reliable PPV data for NIPT screening for chromosomal aneuploidy, which provides a reliable basis for clinical genetic counseling and treatment; it is recommended to perform prenatal diagnosis and perform chromosomal nucleus when non-invasive and high-risk prompts suspicious chromosomal abnormalities (over/under/microdeletion/microduplication). Type and CMA inspection, so that the inspection is more comprehensive and not easy to miss the diagnosis.

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.

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