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Sample records for prenatal screening cultures

  1. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  2. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  4. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  5. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  6. Prenatal screening methods for aneuploidies

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey

    2013-01-01

    Full Text Available Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation

  7. Prenatal and newborn screening for hemoglobinopathies.

    Science.gov (United States)

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  8. Knowledge of prenatal screening and psychological management of test decisions

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2010-01-01

    OBJECTIVES: To study associations between pregnant women's knowledge of prenatal screening and decisional conflict in deciding whether to participate in first trimester screening for Down's syndrome in a setting of required informed consent and to study associations between knowledge and personal...... level of knowledge for the pregnant women making choices about participation in prenatal screening for Down's syndrome in order to improve psychological management of test decisions. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd....

  9. Advantages of the Quadruple Screen over noninvasive prenatal testing.

    Science.gov (United States)

    Keller, Nathan A; Rijshinghani, Asha

    2016-03-01

    Noninvasive prenatal testing (NIPT) is becoming increasingly popular with some offering it as a primary screen option in all patients in place of serum screening. Serum screening offers insight into placental function, which NIPT does not. Abnormal levels of analytes in the serum screen have been associated with pregnancy complications.

  10. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Science.gov (United States)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  11. On what grounds do women participate in prenatal screening?

    DEFF Research Database (Denmark)

    Santalahti, P; Aro, A R; Hemminki, E

    1998-01-01

    Along with the rapid biomedical development of prenatal screening tests, target groups' attitudes and decision-making about, and the acceptance of, screening procedures have come into focus. To understand users' decision-making, it is essential to understand users' knowledge and perceptions of a ...

  12. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, R.V.; Kleinveld, J.H.; Dondorp, W.J.; Pajkrt, E.; Timmermans, D.R.M.; Holtkamp, K.C.A.; Karsten, M.; Vlietstra, A.L.; Lachmeijer, A.M.A.; Henneman, L.

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherla

  13. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  14. Providing information about prenatal screening for Down syndrome

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Pedersen, Claus Duedal

    2015-01-01

    BACKGROUND: In recent decades there have been advances in the options for prenatal screening. Screening programmes for Down syndrome are well established in many countries. It is important that pregnant women are well informed about the benefits and risks of screening. A variety of interventions...... screening for Down syndrome. DESIGN: SYSTEMATIC REVIEW: METHODS: A systematic search was performed using the PUBMED and EMBASE databases. The search terms included MeSH terms and free text and were combined by Boolean terms (AND, OR) with no restriction on language or time. MAIN OUTCOME MEASURES: Main...... information about prenatal screening for Down syndrome can improve their ability to make an informed choice. This article is protected by copyright. All rights reserved....

  15. Prenatal screening: current practice, new developments, ethical challenges.

    Science.gov (United States)

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.

  16. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    Science.gov (United States)

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  17. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    Science.gov (United States)

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  18. Inadequate syphilis screening among women with prenatal care in a community with a high syphilis incidence.

    Science.gov (United States)

    Trepka, Mary Jo; Bloom, Sharon A; Zhang, Guoyan; Kim, Sunny; Nobles, Robert E

    2006-11-01

    This study was designed to evaluate the extent to which pregnant women in a community with a high syphilis incidence were screened for syphilis according to standard recommendations of twice during prenatal care and at labor and delivery. Labor and delivery records from 4 hospitals in Miami-Dade County, Florida, were abstracted to obtain maternal and prenatal care characteristics and syphilis screening practices. Of the 1991 women, records indicated that 1655 (83%) were screened at least once during prenatal care, 220 (11%) were screened twice during prenatal care before delivery, and 184 (9%) were screened twice during prenatal care and at delivery. Attending a private clinic, having more than adequate prenatal care and having private insurance were associated with not being screened at least twice before delivery. Few women were screened according to standard recommendations, and provider or institutional-related factors affected adequacy of screening.

  19. Prenatal screening costs at a large military treatment facility.

    Science.gov (United States)

    Shiv, Erin; Sale, Taylor J; Simsiman, Amanda; Leininger, William M; Lutgendorf, Monica A

    2017-07-01

    Prenatal screening with cell-free DNA (cfDNA) offers improved detection of Down syndrome (T21) compared to conventional screening. These tests are expensive and have fewer detectable anomalies. Our objective was to investigate potential costs and test performance of screening algorithms when accounting for detectable aneuploidies. This is a cost analysis for a large military treatment facility. Using a theoretical delivery cohort and published performance data, universal screening with cfDNA was compared to sequential screening, comparing T21 to all detectable aneuploidies. Predicted test performance and costs were calculated. A cohort of 3000 deliveries was used. For T21, universal cfDNA is more expensive ($1,346,064) than sequential screening ($244,885), but has a lower false positive rate and avoids 101 invasive diagnostic tests. An additional case of T21 is detected with a marginal cost of $1,101,179. For all detectable aneuploidies, cfDNA is more expensive ($1,353,660) than sequential screening ($239,189), and 59 invasive diagnostic tests are avoided. Sequential screening detects an additional case of aneuploidy, with a cost savings of $1,114,471. Although cfDNA is superior in detecting T21 cases, sequential screening is superior when considering all aneuploidies detectable. The cost increase with universal cfDNA is significant, and is not justified with small improvements in the performance.

  20. Effectiveness of Prenatal Screening for Hemoglobinopathies in a Developing Country.

    Science.gov (United States)

    Choudhuri, Soumita; Sen, Aditi; Ghosh, Malay Kumar; Misra, Sanjay; Bhattacharyya, Maitreyee

    2015-01-01

    The thalassemias are among the most common monogenic diseases worldwide, a national health burden in India. There are estimated 7500-12,000 babies born with β-thalassemia major (β-TM) every year in this country. Couples who are at-risk of having children with hemoglobin (Hb) disorders desired to have the option of avoiding the birth of an affected child by prenatal diagnosis (PND). Thus, the prenatal women are a highly important target group for carrier screening and preventing the birth of thalassemic children in the country. The present study was conducted among 20,883 pregnant women, irrespective of gravida and duration of pregnancy, from the prenatal clinic of Nilratan Sarkar (NRS) Medical College & Hospital, Kolkata, West Bengal, India, from February 2009 to November 2012. Thalassemia carrier status was assessed by high performance liquid chromatography (HPLC) along with red blood cell (RBC) indices. Husbands of all thalassemia carrier women were advised and persuaded to undergo screening for hemoglobinopathies. The couples were counseled to undergo PND if both of them were detected to be thalassemia carriers. The data were statistically analyzed to evaluate the efficacy of this procedure.

  1. Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.

    Science.gov (United States)

    Hall, Sue; Chitty, Lyn; Dormandy, Elizabeth; Hollywood, Amelia; Wildschut, Hajo I J; Fortuny, Albert; Masturzo, Bianca; Santavý, Jiøí; Kabra, Madhulika; Ma, Runmei; Marteau, Theresa M

    2007-05-01

    To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries. Leaflets were obtained from clinicians in UK, Netherlands, Spain, Italy, Czech Republic, China and India. Two analyses were conducted. First, all relevant text relating to the choice about undergoing screening was extracted and described. Second, each separate piece of information or statement about the condition being screened for was extracted and then coded as either positive, negative or neutral. Only Down's syndrome was included in the analysis since there was relatively little information about other conditions. There was a strong emphasis on choice and the need for discussion about prenatal screening tests in the leaflets from the UK and Netherlands. The leaflet from the UK gave most information about Down's syndrome and the smallest proportion of negative information. By contrast, the Chinese leaflet did not mention choice and gave the most negative information about Down's syndrome. Leaflets from the other countries were more variable. This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further.

  2. Patients' Knowledge of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Sheinis, Michal; Bensimon, Kira; Selk, Amanda

    2017-07-14

    This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10.2% of women underwent screening prior to having been counseled. Multigravidity (p < 0.05) and prior counseling (p < 0.001) were positively correlated with knowledge while first language other than English (p < 0.001) was negatively correlated with knowledge. Given these findings, an effort needs to be made on the part of health care providers to increase counseling rates to 100%, stressing the optional nature of the test to attain true informed consent.

  3. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

    Science.gov (United States)

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-12-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

  4. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  5. Korean Screen Cultures

    DEFF Research Database (Denmark)

    The «Korean Wave», or Hallyu phenomenon, has brought South Korean popular culture to the global population. Studies on Korean visual culture have therefore often focused on this aspect, leaving North Korea sidelined and often considered in a negative light because of its political regime. Korean...... – including online gaming and television drama – and concentrates on the margins, in which the very nature of «The South» is contested. «The South and the North» examines North Korea as an ideological other in South Korean popular culture as well as discussing North Korean cinema itself. «The Global» offers...... new approaches to Korean popular culture beyond national borders and includes work on K-pop and Korean television drama. This book is a vital addition to existing scholarship on Korean popular culture, offering a unique view by providing an imaginary unification of the two Koreas negotiated through...

  6. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  7. Non―invasive prenatal screening for chromosomal abnormalities ...

    African Journals Online (AJOL)

    Cláudia Amorim Costa

    2016-08-27

    Aug 27, 2016 ... time its implementation as a universal prenatal aneuploidy screening. ... reaction. * Corresponding author at: Rua Doutor Anto´nio Macedo 309, 3° esquerdo. ..... Recently, Wald and Bestwick proposed a reflex DNA test-.

  8. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.; Spelten, E.R.; Hutton, E.K.; Dulmen, A.M. van

    2016-01-01

    OBJECTIVES: This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling du

  9. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  10. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  11. Measurement of fetal maxillary and mandibular angles for first-trimester prenatal screening among Taiwanese women

    Directory of Open Access Journals (Sweden)

    Fan-Hlan Koo

    2014-08-01

    Conclusion: Normative data for ultrasonographic measurements of maxillary and mandibular angles among the Taiwanese population are presented. Our results may serve as reference values in congenital anomaly screening during prenatal examination.

  12. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

    Institute of Scientific and Technical Information of China (English)

    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  13. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a

  14. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  15. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  16. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  17. Decision‐making process of prenatal screening described by pregnant women and their partners

    National Research Council Canada - National Science Library

    Wätterbjörk, Inger; Blomberg, Karin; Nilsson, Kerstin; Sahlberg‐Blom, Eva

    2015-01-01

    ... describe complex feelings regarding the risk assessment. The decision making about prenatal screening has been described as easy by some women who viewed the decision as a mere formality and a confirmation that all is well. Women have also described decision making on screening as a process in which they considered their own...

  18. Georgia prenatal care providers' perceptions of barriers to sexually transmitted disease screening.

    Science.gov (United States)

    Barnes, Rheta S; Anderson, Lynda A; Weisbord, Joanna S; Koumans, Emilia; Toomey, Kathleen E

    2003-09-01

    Evidence suggests that sexually transmitted disease (STD) screening during pregnancy is not optimal. No published studies have systematically examined barriers that hinder routine STD screening. This study examines prenatal care providers' perceptions about barriers to routine STD screening of pregnant women. Using a conceptual framework, four a priori barrier categories were developed: provider, patient, organizational, and structural. Responses to a question on barriers to STD screening in a 1998 mail survey of Georgia prenatal care providers were qualitatively classified into one of these categories. Of the 293 providers who responded, 71% identified structural barriers, with 52% citing inadequate reimbursement. These respondents were most likely to name barriers categorized as structural, not patient, provider, or organization issues. Efforts to improve STD screening of pregnant women should include a focus on structural level interventions, such as instituting health care policies that provide adequate reimbursement for routine STD screening during pregnancy.

  19. Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

    DEFF Research Database (Denmark)

    Santalahti, P; Hemminki, E; Aro, A R

    1999-01-01

    AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnai...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies.......AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS...... asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). RESULTS: The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented...

  20. From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan.

    Science.gov (United States)

    Shaw, S W Steven; Chen, Chih-Ping; Cheng, Po-Jen

    2013-12-01

    Down syndrome is the most common autosomal chromosome aneuploidy. The prenatal Down syndrome screening protocol has been known in Taiwan for the past 20 years. The maternal serum double markers required for the screening test was first implemented into the general prenatal check-up back in 1994, where it had around a 60% detection rate at a 5% false positive rate. The first trimester combined test was started in 2005, and the maternal serum quadruple test was introduced in 2008 to replace the previous double test. The overall detection rate for the current screening strategies (first trimester combined or second trimester quadruple test) in Taiwan ranges between 80% and 85% at a fixed 5% false positive rate. Noninvasive prenatal testing (NIPT) is the latest powerful fetal aneuploidy detection method and has become commercially available in Taiwan starting from 2013. The sensitivity and specificity for NIPT are very high (both over 99%) according to large worldwide studies. Our preliminary data for NIPT from 11 medical centers in Taiwan have also shown a 100% detection rate for Down syndrome and Edwards syndrome, respectively. Invasive chromosome studies such as amniocentesis or chorionic villus sampling cannot be replaced by NIPT, and all prenatal screening and NIPT results require confirmation using invasive testing. This review discusses the Down syndrome screening method assessments and the progress of NIPT in Taiwan.

  1. Copy-number variation and false positive prenatal aneuploidy screening results.

    Science.gov (United States)

    Snyder, Matthew W; Simmons, LaVone E; Kitzman, Jacob O; Coe, Bradley P; Henson, Jessica M; Daza, Riza M; Eichler, Evan E; Shendure, Jay; Gammill, Hilary S

    2015-04-23

    Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregnancies with discordant prenatal test results and found in two cases that maternal duplications on chromosome 18 were the likely cause of the discordant results. Modeling based on population-level copy-number variation supports the possibility that some false positive results of noninvasive prenatal screening may be attributable to large maternal copy-number variants. (Funded by the National Institutes of Health and others.).

  2. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    M.P. Fransen; M.L. Essink-Bot; I. Vogel; J.P. Mackenbach; E.A.P. Steegers; H.I.J. Wildschut

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited betwe

  3. Application value of OSCAR syetem in prenatal screen of chromosome disease and severeα-thalassemia

    Institute of Scientific and Technical Information of China (English)

    Yi Ling; Song Jin; Chun-Xia Hu; Rui-XiANan; Fu Huo; Ning Zhang; Tu-Zhao Xie; Qun-Hua Shi

    2016-01-01

    Objective:To study the value of combining serum and ultrasound nuchal translucency thickness (NT) measurement for One-stop Clinic of Risk Assessment (OSCAR) in Hainan Province in prenatal diagnose of chromosomal disorders and thalassemia diagnosis.Methods:The patients of 11-13+ 6 weeks in our hospital for regularly standardized checking were selected for OSCAR prenatal screening, the patients of the Down's and severe thalassemia at high risk were selected for prenatal diagnosis of fetal karyotype and thalassemia gene checking, then pregnancy outcomes was followed up. Rate of OSCAR in fetal chromosomal disease and the diagnostic value in fetal thalassemia was detected.Results:The positive rate of OSCAR Down's screening was 9.8%, the detection rate was 90%. The incidence of chromosomal abnormalities and severe alpha thalassemia were increased as NT thickening and tricuspid or venous ductus regurgitation.Conclusions: OSCAR Down's screening system for early pregnancy is noninvasive, affordable and it is preferred prenatal screening through comprehensive evaluation.

  4. The influence of prenatal screening and termination of pregnancy on perinatal mortality rates

    NARCIS (Netherlands)

    Pal-de Bruin, K.M. van der; Graafmans, W.; Biermans, M.C.J.; Richardus, J.H.; Zijlstra, A.G.; Reefhuis, J.; Mackenbach, J.P.; Verloove-Vanhorick, S.P.

    2002-01-01

    Objectives This study concerns the possible effect of practice of prenatal screening of congenital anomalies followed by termination of pregnancy on the perinatal mortality between European countries. Methods Data of nine region-specific EUROCAT registries from five European countries were used to c

  5. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    Fransen, M.P.; Essink-Bot, M.L.; Vogel, I.; Mackenbach, J.P.; Steegers, E.A.P.; Wildschut, H.I.J.

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited

  6. Culture and genetic screening in Africa.

    Science.gov (United States)

    Jegede, Ayodele S

    2009-12-01

    Africa is a continent in transition amidst a revival of cultural practices. Over previous years the continent was robbed of the benefits of medical advances by unfounded cultural practices surrounding its cultural heritage. In a fast moving field like genetic screening, discussions of social and policy aspects frequently need to take place at an early stage to avoid the dilemma encountered by Western medicine. This paper, examines the potential challenges to genetic screening in Africa. It discusses how cultural practices may affect genetic screening. It views genomics science as a culture which is trying to diffuse into another one. It argues that understanding the existing culture will help the diffusion process. The paper emphasizes the importance of genetic screening for Africa, by assessing the current level of burden of diseases in the continent and shows its role in reducing disease prevalence. The paper identifies and discusses the cultural challenges that are likely to confront genetic screening on the continent, such as the worldview, rituals and taboos, polygyny, culture of son preference and so on. It also discusses cultural practices that may promote the science such as inheritance practices, spouse selection practices and naming patterns. Factors driving the cultural challenges are identified and discussed, such as socialization process, patriarchy, gender, belief system and so on. Finally, the paper discusses the way forward and highlights the ethical considerations of doing genetic screening on the continent. However, the paper also recognizes that African culture is not monolithic and therefore makes a case for exceptions.

  7. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  8. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  9. Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.

    Science.gov (United States)

    Maxwell, Susannah; O'Leary, Peter; Dickinson, Jan E; Suthers, Graeme K

    2017-08-01

    Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  10. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

    Science.gov (United States)

    Wilson, K L; Czerwinski, J L; Hoskovec, J M; Noblin, S J; Sullivan, C M; Harbison, A; Campion, M W; Devary, K; Devers, P; Singletary, C N

    2013-02-01

    The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

  11. Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first.

    Science.gov (United States)

    Spaggiari, Emmanuel; Dreux, Sophie; Stirnemann, Julien J; Czerkiewicz, Isabelle; Houfflin-Debarge, Véronique; Segonne, Alexandra; Jouannic, Jean-Marie; Ville, Yves; Muller, Francoise

    2017-07-01

    Shifting screening for trisomy 21 to the first trimester has resulted in the loss of maternal serum alpha-fetoprotein screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and 'not performed'). Gestational age at diagnosis of spina bifida was compared between these three groups and between the years 2009 and 2011. Median gestational ages at diagnosis of the 742 spina bifida cases between the three groups were 22 weeks [18(+6) -23], 22(+1)  weeks [21(+3) -23] and 21(+4)  weeks [14(+1) -23], respectively (P Spina bifida diagnosis at 14-20 weeks declined from 38.8% in 2009 to 13.3% in 2011 (P spina bifida and resulted in a decrease of 25% of cases of spina bifida detected before 20 weeks. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  12. [Prenatal ultrasound diagnosis of complex heart abnormality in routine screening].

    Science.gov (United States)

    Kronich, W; Salzer-Muhar, U; Strigl, E; Gerstner, G J

    1990-02-01

    Case report on a severe cardial malformation associated with trisomia 21, diagnosed by ultrasound-screening in the 34th week of gestation. Further diagnostic evaluation of the case and therapeutic management are described. The problems of modern malformation diagnostics by routine ultrasound scanning in pregnancy are discussed.

  13. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    OpenAIRE

    Ravindra Kumar; Vandana Arya; Sarita Agarwal

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness ...

  14. Japan Turns Pro-Life: Recent Change in Reproductive Health Policy and Controversies over Prenatal Screening

    Directory of Open Access Journals (Sweden)

    Etsuji Okamoto

    2014-02-01

    Full Text Available Japan, known as a pro-choice country in terms of abortion, is currently facing the increase of “selective abortions” thanks to new prenatal screening. Efforts to restrict proliferation of new technology has not been successful and it is likely that Japan will turn pro-life by strictly enforcing the Maternity Protection Act (MPA, which prohibits abortions due to “fetal cause”.

  15. Sexually transmitted diseases during pregnancy: screening, diagnostic, and treatment practices among prenatal care providers in Georgia.

    Science.gov (United States)

    Weisbord, J S; Koumans, E H; Toomey, K E; Grayson, C; Markowitz, L E

    2001-01-01

    Sexually transmitted diseases (STD) during pregnancy are associated with adverse outcomes. We conducted a prenatal care provider survey to determine STD screening, diagnosis, and treatment practices. Standard questionnaires were mailed to Georgia-licensed obstetrician/ gynecologists, family practitioners, and nurse-midwives (N = 3,082) in 1998. Of the 1,300 care providers who returned the survey, 565 (44%) provided prenatal care, 390 (57%) were male, and 396 (70%) were obstetrician/ gynecologists. Overall, 553 prenatal care providers (98%) reported screening all pregnant patients for syphilis, 551 (98%) for hepatitis B, 501 (89%) for trichomonas, 474 (84%) for human immunodeficiency virus (HIV), 401 (71%) for gonorrhea, 403 (71%) for chlamydia, 475 (84%) for group B streptococci, and 130 (23%) for bacterial vaginosis (BV) (high risk). Less than 10% used amplification tests for chlamydia or gonorrhea. Most providers used appropriate regimens to treat STD in pregnant women. A written office policy on testing for BV or HIV was associated with increased screening. Provider education is needed about diagnosis and treatment of STD during pregnancy.

  16. ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

    Science.gov (United States)

    Gregg, Anthony R; Gross, S J; Best, R G; Monaghan, K G; Bajaj, K; Skotko, B G; Thompson, B H; Watson, M S

    2013-05-01

    Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers must become familiar with the advantages and disadvantages of the utilization of this approach as analysis of cell-free fetal DNA moves into clinical practice. Once informed, clinicians can provide efficient pretest and posttest counseling with the goal of avoiding patient harm. It is in the public's best interest that test results contain key elements and that laboratories adhere to established quality control and proficiency testing standards. The analysis of cell-free fetal DNA in maternal circulation for fetal aneuploidy screening is likely the first of major steps toward the eventual application of whole fetal genome/whole fetal exome sequencing.

  17. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

    Science.gov (United States)

    Marek, Jan; Tomek, Viktor; Skovránek, Jan; Povysilová, Viera; Samánek, Milan

    2011-01-01

    To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

  18. Cost-effectiveness of prenatal screening strategies for congenital heart disease

    Science.gov (United States)

    Pinto, N. M.; Nelson, R.; Puchalski, M.; Metz, T. D.; Smith, K. J.

    2017-01-01

    Objective The economic implications of strategies to improve prenatal screening for congenital heart disease (CHD) in low-risk mothers have not been explored. The aim was to perform a cost-effectiveness analysis of different screening methods. Methods We constructed a decision analytic model of CHD prenatal screening strategies (four-chamber screen (4C), 4C + outflow, nuchal translucency (NT) or fetal echocardiography) populated with probabilities from the literature. The model included whether initial screens were interpreted by a maternal–fetal medicine (MFM) specialist and different referral strategies if they were read by a non-MFM specialist. The primary outcome was the incremental cost per defect detected. Costs were obtained from Medicare National Fee estimates. A probabilistic sensitivity analysis was undertaken on model variables commensurate with their degree of uncertainty. Results In base–case analysis, 4C + outflow referred to an MFM specialist was the least costly strategy per defect detected. The 4C screen and the NT screen were dominated by other strategies (i.e. were more costly and less effective). Fetal echocardiography was the most effective, but most costly. On simulation of 10 000 low-risk pregnancies, 4C+ outflow screen referred to an MFM specialist remained the least costly per defect detected. For an additional $580 per defect detected, referral to cardiology after a 4C + outflow was the most cost-effective for the majority of iterations, increasing CHD detection by 13 percentage points. Conclusions The addition of examination of the outflow tracts to second-trimester ultrasound increases detection of CHD in the most cost-effective manner. Strategies to improve outflow-tract imaging and to refer with the most efficiency may be the best way to improve detection at a population level. PMID:24357432

  19. Women's attitude towards prenatal screening for red blood cell antibodies, other than RhD

    Directory of Open Access Journals (Sweden)

    van der Schoot CE

    2008-11-01

    Full Text Available Abstract Background Since July 1998 all Dutch women (± 200,000/y are screened for red cell antibodies, other than anti-RhesusD (RhD in the first trimester of pregnancy, to facilitate timely treatment of pregnancies at risk for hemolytic disease of the fetus and newborn (HDFN. Evidence for benefits, consequences and costs of screening for non-RhD antibodies is still under discussion. The screening program was evaluated in a nation-wide study. As a part of this evaluation study we investigated, according to the sixth criterium of Wilson and Jüngner, the acceptance by pregnant women of the screening program for non-RhD antibodies. Methods Controlled longitudinal survey, including a prenatal and a postnatal measurement by structured questionnaires. Main outcome measures: information satisfaction, anxiety during the screening process (a.o. STAI state inventory and specific questionnaire modules, overall attitude on the screening program. Univariate analysis was followed by standard multivariate analysis to identify significant predictors of the outcome measures. Participants: 233 pregnant women, distributed over five groups, according to the screening result. Results Satisfaction about the provided information was moderate in all groups. All screen- positive groups desired more supportive information. Anxiety increased in screen- positives during the screening process, but decreased to basic levels postnatally. All groups showed a strongly positive balance between perceived utility and burden of the screening program, independent on test results or background characteristics. Conclusion Women highly accept the non-RhD antibody screening program. However, satisfaction about provided information is moderate. Oral and written information should be provided by obstetric care workers themselves, especially to screen-positive women.

  20. 'He's the dad isn't he?' Gender, race and the politics of prenatal screening.

    Science.gov (United States)

    Reed, Kate

    2011-01-01

    Men's involvement in prenatal screening is becoming increasingly important. However, despite the potentially significant role of fathers in haemoglobinopathy screening, their participation is under researched. Furthermore, the portrayal of Black and minority ethnic (BME) fathers tends to be based on persisting stereotypes of men as either absentee parents with limited roles in screening or as controlling decision-makers. To describe the influence of ethnicity and gender on the process of participation of men in antenatal screening for sickle cell and thalassaemia. A qualitative study, using in-depth interviews and focus groups with 22 pregnant women from a range of socio-economic and ethnic backgrounds, 16 male partners and 15 midwives in a northern city in the UK. Men from BME groups take a pragmatic and equitable role in screening with their partners. White British men on the other hand, while willing to participate in screening, take a more casual view of their own direct participation. Accounts from hospital midwives supported these findings. While acknowledging the importance of material connections between certain BME groups and blood disorders, two key issues are raised. First, BME men's involvement contribute a challenge towards existing assumptions often made about BME fathers. Second, White British men's participation can be useful in determining the genetic status of the foetus and therefore their role should not be neglected. Screening research and practice need to broaden out their focus on issues of gender, ethnicity and screening.

  1. Screening Madness in American Culture.

    Science.gov (United States)

    Rohr, Susanne

    2015-09-01

    This two-step argument first establishes that the majority of recent American films dealing with mental illness draw on a traditional iconography of madness as it has been established over the centuries in Western culture. In this vocabulary of images, the mad are typically seen as wise fools, as dangerous villains or as gifted geniuses. The author then argues that some of these new films add a fourth category in which the mad are defined as normal and the person with autism as the embodiment of this normalcy. A close examination of the films then suggests that high functioning autism has become the embodiment of America's current cultural condition.

  2. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  3. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  4. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  5. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  6. First trimester prenatal screening among women pregnant after IVF/ICSI

    DEFF Research Database (Denmark)

    Anne Cathrine, Gjerris; Tabor, Ann; Loft, Anne;

    2012-01-01

    BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly in pregna......BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly...... in pregnancies after ICSI. The aim of the present systematic review was to evaluate the findings of first trimester screening for chromosomal abnormalities in IVF/ICSI singleton and twin pregnancies. METHODS A systematic MESH-term search in MEDLINE using PubMed and the Cochrane Library was performed until May...... 2011, with no earlier date limit. RESULTS The electronic search retrieved 562 citations, 96 of which were evaluated in detail and 57 were then excluded for not meeting the selection criteria. A total of 61 articles were finally selected for review. Our analysis of the data shows that, for IVF...

  7. [PHQ-2 as First Screening Instrument of Prenatal Depression in Primary Health Care, Spain].

    Science.gov (United States)

    Rodríguez-Muñoz, María de la Fe; Castelao Legazpi, Pilar Carolina; Olivares Crespo, María Eugenia; Soto Balbuena, Cristina; Izquierdo Méndez, Nuria; Ferrer Barrientos, Francisco Javier; Huynh-Nhu, Le

    2017-01-30

    Prenatal depression is a major public health problem that is barely treated. Based on existing literature, depression during this period is associated with negative consequences for the mother and the baby. Therefore it is important to make an adequate screening in this population. The aim of this study was to determine the discriminant validity and cut-off of the Patient Health Questionnaire (PHQ-2) as a screening tool to identify the depression in pregnant women living in Spain. The sample included 1,019 female participants, aged between 19 and 45 years, who participated voluntarily, and received prenatal care during the first trimester. Participants completed a sociodemographic questionnaire, PHQ-2 andPHQ-9. The research has been developed within the Obstetrics and Gynecology department at two public hospitals in two different Spanish Regions. The research was conducted between 2014 and 2016 performing a ROC curve analysis to determine the discriminative capacity and cut-off for PHQ-2. 11,1 % out of 1019 participants were diagnosed with depression. The area under the curve of PHQ-2 was 0,84 p smaller than 0,001. With the cutoff 2 the sensitivity and specificity of 85,4 % and 79,5% respectively. A score Equal or greater than 2 is an appropriate cut-off in PHQ-2 to detect depression during pregnancy. The use of PHQ-2 could precede PHQ-9 as a brief screening tool for antenatal depression in obstetric settings.

  8. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

    Directory of Open Access Journals (Sweden)

    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  9. Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups

    OpenAIRE

    Jo, Dae Gi; Seo, Ju Tae; Lee, Joong Shik; Park, So Yeon; Kim, Jin Woo

    2013-01-01

    Purpose Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. Materials and Methods From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for ...

  10. The strategies of mass screen culture

    Directory of Open Access Journals (Sweden)

    Vorozheikin Yevhen Petrovich

    2015-10-01

    Full Text Available The article deals with strategies of mass screen culture aimed at manipulation with images of death and violence. The author highlights the main ways of implementation of these strategies, their relationship with contemporary cultural trends. Also the article observes negative consequences of such strategy as screen “anesthesia” of human feelings through transformation of images of death and violence in a way of exception of moral evaluation of the act of violence and death deprivation in metaphysical and existential sense.

  11. Prenatal diagnosis and selective abortion: a result of the cultural turn?

    Science.gov (United States)

    Bromage, D I

    2006-06-01

    There is a growing trend in obstetric medicine of prenatal diagnosis and the selective abortion of foetuses that are likely to be born with a disability. Reasons commonly given to explain this trend include the financial implications of screening and testing policies, the disruption to families caused by the birth of a child with a disability, and the potential quality of life of the unborn child. This paper reflects upon another possible reason for this. It is argued that it is, in part, a consequence of our attitudes towards disability and a pursuit of aesthetic perfection. These attitudes arise from a social context that may be explained by considering the effect on the disabled community of the transition from modernity to postmodernity. This shift is demonstrated by inspecting some of the synonymous developments in art history. It is suggested that this "cultural turn" may have both helped and hindered people with disabilities, but the hypothesis requires further testing. This could best be achieved with a qualitative study of what motivates parental decision making in the obstetric unit.

  12. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  13. Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

    DEFF Research Database (Denmark)

    Faber, H. H.; Bouman, K.; Walle, H. E. K.

    2015-01-01

    decreased in the northern Netherlands since 2005. The introduction of prenatal screening in 2007 markedly contributed to this trend: pregnancies involving CA were terminated more often, leading to a decrease in the perinatal mortality rate. By 2011, the perinatal mortality rate associated with CA...... and stillbirths from 20 weeks' gestation onwards, excluding terminations of pregnancy for foetal anomalies (TOPFA). RESULTS: A total of 84.832 cases of CA were included from 13 European registries covering a total of 3.1million births. In Europe the perinatalmortality associated with CA decreased from an average...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...

  14. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2015-01-01

    Full Text Available Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

  15. Cost-effectiveness of rapid syphilis screening in prenatal HIV testing programs in Haiti.

    Directory of Open Access Journals (Sweden)

    Bruce R Schackman

    2007-05-01

    Full Text Available BACKGROUND: New rapid syphilis tests permit simple and immediate diagnosis and treatment at a single clinic visit. We compared the cost-effectiveness, projected health outcomes, and annual cost of screening pregnant women using a rapid syphilis test as part of scaled-up prenatal testing to prevent mother-to-child HIV transmission in Haiti. METHODS AND FINDINGS: A decision analytic model simulated health outcomes and costs separately for pregnant women in rural and urban areas. We compared syphilis syndromic surveillance (rural standard of care, rapid plasma reagin test with results and treatment at 1-wk follow-up (urban standard of care, and a new rapid test with immediate results and treatment. Test performance data were from a World Health Organization-Special Programme for Research and Training in Tropical Diseases field trial conducted at the GHESKIO Center Groupe Haitien d'Etude du Sarcome de Kaposi et des Infections Opportunistes in Port-au-Prince. Health outcomes were projected using historical data on prenatal syphilis treatment efficacy and included disability-adjusted life years (DALYs of newborns, congenital syphilis cases, neonatal deaths, and stillbirths. Cost-effectiveness ratios are in US dollars/DALY from a societal perspective; annual costs are in US dollars from a payer perspective. Rapid testing with immediate treatment has a cost-effectiveness ratio of $6.83/DALY in rural settings and $9.95/DALY in urban settings. Results are sensitive to regional syphilis prevalence, rapid test sensitivity, and the return rate for follow-up visits. Integrating rapid syphilis testing into a scaled-up national HIV testing and prenatal care program would prevent 1,125 congenital syphilis cases and 1,223 stillbirths or neonatal deaths annually at a cost of $525,000. CONCLUSIONS: In Haiti, integrating a new rapid syphilis test into prenatal care and HIV testing would prevent congenital syphilis cases and stillbirths, and is cost-effective. A

  16. Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections.

    Science.gov (United States)

    Floyd, Erin; Allyse, Megan A; Michie, Marsha

    2016-10-01

    The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers' advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

  17. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  18. Pregnant Women's Secondhand Smoke Exposure and Receipt of Screening and Brief Advice by Prenatal Care Providers in Argentina and Uruguay

    Science.gov (United States)

    Tong, Van T.; Morello, Paola; Alemán, Alicia; Johnson, Carolyn; Dietz, Patricia M.; Farr, Sherry L.; Mazzoni, Agustina; Berrueta, Mabel; Colomar, Mercedes; Ciganda, Alvaro; Becú, Ana; Gonzalez, Maria G. Bittar; Llambi, Laura; Gibbons, Luz; Smith, Ruben A.; Buekens, Pierre; Belizán, José M.; Althabe, Fernando

    2015-01-01

    Abstract Secondhand smoke (SHS) exposure has negative effects on maternal and infant health. SHS exposure among pregnant women in Argentina and Uruguay has not been previously described, nor has the proportion of those who have received screening and advice to avoid SHS during prenatal care. Women who attended one of 21 clusters of publicly-funded prenatal care clinics were interviewed regarding SHS exposure during pregnancy at their delivery hospitalization during 2011–2012. Analyses were conducted using SURVEYFREQ procedure in SAS version 9.3 to account for prenatal clinic clusters. Of 3,427 pregnant women, 43.4 % had a partner who smoked, 52.3 % lived with household members who smoked cigarettes, and 34.4 % had no or partial smoke-free home rule. Of 528 pregnant women who worked outside of the home, 21.6 % reported past month SHS exposure at work and 38.1 % reported no or partial smoke-free work policy. Overall, 35.9 % of women were exposed to SHS at home or work. In at least one prenatal care visit, 67.2 % of women were screened for SHS exposure, and 56.6 % received advice to avoid SHS. Also, 52.6 % of women always avoided SHS for their unborn baby's health. In summary, a third of pregnant women attending publicly-funded prenatal clinics were exposed to SHS, and only half of pregnant women always avoided SHS for their unborn baby's health. Provider screening and advice rates can be improved in these prenatal care settings, as all pregnant women should be screened and advised of the harms of SHS and how to avoid it. PMID:25427876

  19. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  20. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.

    Science.gov (United States)

    Lai, S; Lau, W L; Leung, W C; Lai, F K; Chin, R

    2010-11-01

    To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007. Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities. Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.

  1. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening.

    Science.gov (United States)

    Martin, Linda; Gitsels-van der Wal, Janneke T; Pereboom, Monique T R; Spelten, Evelien R; Hutton, Eileen K; van Dulmen, Sandra

    2016-01-01

    This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling duration. During 184 videotaped prenatal counseling consultations with 20 Dutch midwives, verbal psychosocial and affective behavior was measured by the Roter Interaction Analysis System (RIAS). We rated the duration of client-directed gaze. We performed multilevel analyses to assess the relation between clients' psychosocial communication and midwives' psychosocial and affective communication, client-directed gaze and counseling duration. Clients' psychosocial communication was higher if midwives' asked more psychosocial questions and showed more affective behavior (β=0.90; CI: 0.45-1.35; pcommunication was not related to midwives" client-directed gaze. Additionally, psychosocial communication by clients was directly, positively related to the counseling duration (β=0.59; CI: 0.20-099; p=0.004). In contrast with our expectations, midwives' client-directed gaze was not related with psychosocial communication of clients. In addition to asking psychosocial questions, our study shows that midwives' affective behavior and counseling duration is likely to encourage client's psychosocial communication, known to be especially important for facilitating decision-making. Copyright © 2015 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  2. Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

    NARCIS (Netherlands)

    Mersy, E.; Die-Smulders, C.E. de; Coumans, A.B.; Smits, L.J.; Wert, G.M.W.R. de; Frints, S.G.; Veltman, J.A.

    2015-01-01

    BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) in Down syndrome screening programmes requires health policy decisions about its combination with other tests and its timing in pregnancy. AIM: Our aim was to aid health policy decision makers by conducting a quantitative analysis of

  3. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  4. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Chen, H; Griffin, D K; Jestice, K; Hackett, G; Cooper, J; Ferguson-Smith, M A

    1998-09-01

    Fetal erythroblasts circulating in maternal blood are important candidate cells for non-invasive prenatal diagnosis. We have cultured erythroblasts from 16 maternal blood samples, both with and without prior enrichment by magnetic activated cell sorting (MACS), in a semi-solid medium containing growth factors. Individual colonies were examined by PCR with sex chromosome-specific primers and microsatellite marker primers. No conclusive Y-chromosome specific amplification could be demonstrated in any of the 16 cases, even when the mother was confirmed to be carrying a male fetus. All colonies tested by microsatellite marker PCR were of maternal origin. Our results suggest that the probability of obtaining fetal colonies from fetal erythroblasts circulating in maternal blood is very low and that approaches for culturing fetal erythroblasts in vitro cannot yet be used reliably for prenatal diagnosis using current methods for fetal cell enrichment.

  5. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  6. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  7. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

    DEFF Research Database (Denmark)

    Boyd, P A; Devigan, C; Khoshnood, B

    2008-01-01

    screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural...... tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down...

  8. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

    Science.gov (United States)

    Kornreich, Ruth; Ekstein, Josef; Edelmann, Lisa; Desnick, Robert J

    2004-01-01

    Since the early 1990s, Dor Yeshorim (DY) and the Mount Sinai School of Medicine (MSSM) have conducted premarital and prenatal carrier screening for cystic fibrosis (CF) in the Ashkenazi Jewish (AJ) population as part of their genetic testing programs, respectively. Together, over 170,000 screenees have been tested. In this study, we report the CF mutation frequencies in over 110,000 screenees who reportedly were of 100% AJ descent from the DY program and MSSM. In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of T (0.0020), and N1303K (0.0016), among screenees who were 100% AJ was 1 in 26; when D1152H and the rare 1717-1G>A were included, the overall carrier frequency increased to approximately 1 in 23. In four families with D1152H, five compound heterozygotes for D1152H and W1282X (n = 2), DeltaF508 (1) or 3849+10kb C>T (1) were identified. In contrast, the carrier frequency for screenees reporting screening the AJ population should be considered because compound heterozygosity is associated with a variable disease phenotype. Further studies to delineate the phenotype of CF patients with this mutation are needed.

  9. Comparison of Different Blood Collection, Sample Matrix, and Immunoassay Methods in a Prenatal Screening Setting

    Directory of Open Access Journals (Sweden)

    Jeroen L. A. Pennings

    2014-01-01

    Full Text Available We compared how measurements of pregnancy-associated plasma protein A (PAPP-A and the free beta subunit of human chorionic gonadotropin (fβ-hCG in maternal blood are influenced by different methods for blood collection, sample matrix, and immunoassay platform. Serum and dried blood spots (DBS were obtained by venipuncture and by finger prick of 19 pregnant women. PAPP-A and fβ-hCG from serum and from DBS were measured by conventional indirect immunoassay on an AutoDELFIA platform and by antibody microarray. We compared methods based on the recoveries for both markers as well as marker levels correlations across samples. All method comparisons showed high correlations for both marker concentrations. Recovery levels of PAPP-A from DBS were 30% lower, while those of fβ-hCG from DBS were 50% higher compared to conventional venipuncture serum. The recoveries were not affected by blood collection or immunoassay method. The high correlation coefficients for both markers indicate that DBS from finger prick can be used reliably in a prenatal screening setting, as a less costly and minimally invasive alternative for venipuncture serum, with great logistical advantages. Additionally, the use of antibody arrays will allow for extending the number of first trimester screening markers on maternal and fetal health.

  10. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  11. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  12. Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

    Directory of Open Access Journals (Sweden)

    Sylvie Viaux-Savelon

    Full Text Available BACKGROUND: In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. METHODOLOGY AND PRINCIPAL FINDINGS: Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction. CONCLUSION: False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.

  13. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

    Directory of Open Access Journals (Sweden)

    Forum T. Shah

    2014-07-01

    Full Text Available Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively. Women with positive California Prenatal Screening Program (CPSP results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff- DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

  14. Psychological aspects of individualized choice and reproductive autonomy in prenatal screening.

    Science.gov (United States)

    Hewison, Jenny

    2015-01-01

    Probably the main purpose of reproductive technologies is to enable people who choose to do so to avoid the birth of a baby with a disabling condition. However the conditions women want information about and the 'price' they are willing to pay for obtaining that information vary enormously. Individual women have to arrive at their own prenatal testing choices by 'trading off' means and ends in order to resolve the dilemmas facing them. We know very little about how individuals make these trade-offs, so it is difficult to predict how new technologies will affect their choices and preferences. Uptake decisions can be expected to change, especially in the group of women who now are put off by some aspect of the current screening approach, where the avoidance of miscarriage risk may have provided a kind of 'psychological shelter', protecting a lot of people from having to make other decisions. Technologies such as Pre-implantation Genetic Diagnosis may remove a second 'psychological shelter' because they offer the means of avoiding the birth of an affected child without terminating a pregnancy. Even if new technologies will make some decisions easier in terms of their cognitive demands, they will also create new dilemmas and decision making will not necessarily become less stressful in emotional terms. Key challenges concern information and decision-making.

  15. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  16. Exploring general practitioners' experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study

    Directory of Open Access Journals (Sweden)

    Meiser Bettina

    2008-05-01

    Full Text Available Abstract Background Recent developments have made screening tests for foetal abnormalities available earlier in pregnancy and women have a range of testing options accessible to them. It is now recommended that all women, regardless of their age, are provided with information on prenatal screening tests. General Practitioners (GPs are often the first health professionals a woman consults in pregnancy. As such, GPs are well positioned to inform women of the increasing range of prenatal screening tests available. The aim of this study was to explore GPs experience of informing women of prenatal genetic screening tests for foetal abnormality. Methods A qualitative study consisting of four focus groups was conducted in metropolitan and rural Victoria, Australia. A discussion guide was used and the audio-taped transcripts were independently coded by two researchers using thematic analysis. Multiple coders and analysts and informant feedback were employed to reduce the potential for researcher bias and increase the validity of the findings. Results Six themes were identified and classified as 'intrinsic' if they occurred within the context of the consultation or 'extrinsic' if they consisted of elements that impacted on the GP beyond the scope of the consultation. The three intrinsic themes were the way GPs explained the limitations of screening, the extent to which GPs provided information selectively and the time pressures at play. The three extrinsic factors were GPs' attitudes and values towards screening, the conflict they experienced in offering screening information and the sense of powerlessness within the screening test process and the health care system generally. Extrinsic themes reveal GPs' attitudes and values to screening and to disability, as well as raising questions about the fundamental premise of testing. Conclusion The increasing availability and utilisation of screening tests, in particular first trimester tests, has expanded GPs

  17. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  18. Clinical experience from Thailand noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies

    DEFF Research Database (Denmark)

    Manotaya, S.; Uerpairojkit, B.; Chen, F.

    2016-01-01

    PurposeThe purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand. MethodsIn a 30-month...... period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis. ResultsA total of 4736 participants received the NIPT test, including 2840 high...... 36T21, 19T18, and 8T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively. ConclusionWith stringent protocol, our prospective large...

  19. 产前筛查与诊断的质量控制与热点问题%Quality control and hot issues of maternal serum prenatal screening in China

    Institute of Scientific and Technical Information of China (English)

    吕时铭; 沈凤贤

    2013-01-01

    母血清学产前筛查的质量控制必须强调:孕周和体重等临床因素、测定结果的准确性、风险计算参数、产前筛查数据库等均会影响筛查质量,且产前筛查的结果只是一个风险提示,后续的诊断与随访是关键.现行的中孕期筛查存在检出效率低、假阳性率高等问题,建立适合我国国情的产前筛查和诊断质量管理体系有望提高筛查效率.此外,高龄孕妇及双胎妊娠筛查诊断问题,改进羊水细胞培养方法、提升染色体分析自动化水平,以及快速产前分子诊断技术的引入及定位等问题亟待我们解决.%It must be emphasized in the maternal serum prenatal screening that the quality is not only influenced by accuracy of biomarker assay,risk calculation parameters and biomarker database,but also influenced by clinical factors such as gestational weeks,weight and ect.The result of prenatal screening is just a risk evaluation,the subsequent diagnosis and the follow-up are more important.It is expected to improve screening efficiency by localization of prenatal screening database and making the quality management of the prenatal screening-diagnosis suitable for the national conditions.On the other hand,prenatal screening in the women of advanced maternal age and twin pregnancy,improve amniotic fluid cell culture method,chromosome analysis automation,the introduction and positioning of rapid prenatal molecular diagnosis techniques become the hot issues.

  20. The Status of Quality Control Investigation and Analysis for Maternal Serum Marker of Prenatal Screening Laboratories in China.

    Science.gov (United States)

    He, Falin; Wang, Wei; Zhong, Kun; Yuan, Shuai; Wang, Zhiguo

    2017-01-01

    This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD). Screening protocols were versatile, 73.5% (133/181) used the two-marker model, 24.3% (44/181) used the three-marker model, and 2.2% used the four-marker model. Regarding the software used, 350 laboratories never updated the screening parameters, 89 laboratories had updated their median or parameter by manufacturers, and 24 laboratories had updated the parameters by themselves. Cutoffs differ between laboratories. 59.9% (275/459) use 1/270 as their cutoffs for trisomy 21. 66.2% (296/447) use 1/350 as their cutoff for trisomy 18. 96.5% (361/374) use cutoffs between 2.0 - 2.5 MoM for ONTD. Regarding the results of the monthly median MoM, the percentage of laboratories for which all six monthly median MoMs were within the target of 0.90 - 1.10 was 46.7% (155/332) for AFP, 20.0% (4/20) for hCG, 29.2% (28/96) for β-HCG, 15.7% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. The percentage of laboratories for which all six monthly median MoMs were within the target of 0.95 - 1.05 was 14.2% (47/332) for AFP, 0% (0/20) for HCG, 4.3% (4/96) for β-HCG, 12.6% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. Regarding the screening positive rate, there was a difference in the trisomy 21 positive rate in the same laboratory within the six month. There were variations in the types of screening protocols, different kinds of soft platforms, randomness of choice or update of medians or other important parameters, and great difference in the

  1. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

    Science.gov (United States)

    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  2. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels

    2015-01-01

    STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50...... screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed...... significantly higher NT and lower PAPP-A compared with controls (all P syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights...

  3. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    Science.gov (United States)

    García, E; Timmermans, D R M; van Leeuwen, E

    2009-07-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explores whether the active offer of a prenatal screening test indeed confronts women with a moral dilemma. A qualitative study was developed, based on a randomised controlled trial that aimed to assess the decision-making process of women when confronted with a test offer. A sample of 59 women was interviewed about the different factors balanced in decision-making. Participants felt themselves caught between a need for knowledge and their unwillingness to take on responsibility. Conflict was reported between wishes, preferences and ethical views regarding parenthood; however, women did not seem to be caught in a choice between two or more ethical principles. Participants balanced the interests of the family against that of the fetus in line with their values and their personal circumstances. Therefore, we conclude that they are not so much faced with an ethical dilemma as conflicting interests. We propose that caregivers should provide the opportunity for the woman to discuss her wishes and doubts to facilitate her decision. This approach would help women to assess the meaning of testing within their parental duties towards their unborn child and their current offspring.

  4. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

    Science.gov (United States)

    Sugarman, Elaine A; Nagan, Narasimhan; Zhu, Hui; Akmaev, Viatcheslav R; Zhou, Zhaoqing; Rohlfs, Elizabeth M; Flynn, Kerry; Hendrickson, Brant C; Scholl, Thomas; Sirko-Osadsa, Deborah Alexa; Allitto, Bernice A

    2012-01-01

    Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n = 72,453) and prenatal diagnosis (n = 121) for this condition. Our analysis of large-scale population carrier screening data (n = 68,471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11,000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.

  5. Advances in prenatal screening and prenatal diagnosis for birth defect%出生缺陷产前筛查及产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾

    2011-01-01

    出生缺陷已成为世界婴儿死亡、儿童和成人残疾的主要原因之一,是目前全世界关注的一个重大公共卫生问题.出生缺陷由遗传因素、环境致畸因素或两者共同作用所致.我国是出生缺陷高发国家,通过早期诊断、早期干预可以避免至少70%出生缺陷.出生缺陷干预是一个系统工程,产前筛查和产前诊断是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.%Birth defects has been one of main causes of infant mortality, children and adult disability, and are becoming main public heath problem worldwide. Birth defects are associated with environmental factors, genetic factors or interactions of the genetic factors and environmental factors. It is high rates of birth defects in China, at least 70% of the birth defects can be avoided of early diagnosis is determined and early interventions are performed. Intervention of birth defects is a system process, prenatal screening and prenatal diagnosis are effective interventions, and they are the key components of the secondary prevention in birth defects control.

  6. Using simulation to study difficult clinical issues: prenatal counseling at the threshold of viability across american and dutch cultures

    NARCIS (Netherlands)

    Geurtzen, R.; Hogeveen, M.; Rajani, A.K.; Chitkara, R.; Antonius, T.A.; Heijst, A.F. van; Draaisma, J.M.; Halamek, L.P.

    2014-01-01

    OBJECTIVE: Prenatal counseling at the threshold of viability is a challenging yet critically important activity, and care guidelines differ across cultures. Studying how this task is performed in the actual clinical environment is extremely difficult. In this pilot study, we used simulation as a met

  7. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    Science.gov (United States)

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-05

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

  8. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne

    2017-01-01

    INTRODUCTION: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). MATERIAL AND METHODS: This was a nationwide population-based study including...... alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. DISCUSSION: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had...

  9. Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States.

    Science.gov (United States)

    Meredith, Stephanie; Kaposy, Christopher; Miller, Victoria J; Allyse, Megan; Chandrasekharan, Subhashini; Michie, Marsha

    2016-08-01

    The 'Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening' Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens. Some of the challenges faced by PAGs included funding limitations, lack of consistently implemented standards of care and oversight, diverse perspectives among PAGs and questions about neutrality, and lack of access to training and genetic counselors. PAG representatives also put forward suggestions for addressing these challenges, including improving educational and PAG funding and increasing collaboration between PAGs and the medical community. © 2016 John Wiley & Sons, Ltd.

  10. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  11. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  12. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  13. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  14. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  15. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  16. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  17. Effectiveness of Bacterial Vaginosis Screening Program in Routine Prenatal Care and Its Effect on Decrease of Preterm Labor

    Directory of Open Access Journals (Sweden)

    Mehrnaz Mashoufi

    2012-09-01

    Full Text Available Background & Objectives : Bacterial vaginosis is a condition which is determined by changes in microbial ecosystem of vagina and is considered as a preventable risk factor for preterm delivery. This study was conducted to assess the effectiveness of bacterial vaginosis screening program in routine prenatal care and its effect on decreasing preterm labor.   Methods: This clinical trial study was conducted on 474 pregnant women at gestational stage between 2007 and 2008. The participants were randomly divided into 2 groups: intervention group and control group. Screening was performed in intervention group with Amsel's criteria (3 of 4 needed for diagnosis. Positive cases were given clindamycin cream (2% for one week. The outcome of the delivery was assessed in both groups afterward. Data were analyzed by SPSS11 software using descriptive statistics.   Results: There was no significant difference between two groups regarding pregnancy rank, wanted and unwanted pregnancy, insufficient weight gain, mother vaccination and complication of pregnancy. Bacterial vaginosis was observed in 17 out of 216 (8% in the intervention group and then treated. Prevalence of preterm delivery in the intervention and control groups were 3 (1.4% and 12 (4.7%, respectively. The relative risk was protective (RR: 0.3, DR: 0.033, NNT: 30.   Conclusion: Screening and treatment of bacterial vaginosis in pregnant women could significantly decrease the rate of preterm delivery.

  18. A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.

    Directory of Open Access Journals (Sweden)

    Brandon S Walker

    Full Text Available Non-invasive prenatal testing (NIPT is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS but is also more costly. Contingent NIPT may provide a cost-effective alternative to universal NIPT screening. Contingent screening used a two-stage process in which risk is assessed by MSS in the first stage and, based on a risk cutoff, high-risk pregnancies are referred for NIPT. The objective of this study was to (1 determine the optimum MSS risk cutoff for contingent NIPT and (2 compare the cost effectiveness of optimized contingent NIPT to universal NIPT and conventional MSS.Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer.From a societal perspective, universal NIPT dominated both contingent NIPT and MSS. From a government and payer perspective, contingent NIPT dominated MSS. Compared to contingent NIPT, adopting a universal NIPT would cost $203,088 for each additional case detected from a government perspective and $263,922 for each additional case detected from a payer perspective.From a societal perspective, universal NIPT is a cost-effective alternative to MSS and contingent NIPT. When viewed from narrower perspectives, contingent NIPT is less costly than universal NIPT and provides a cost-effective alternative to MSS.

  19. Disability rights, prenatal diagnosis and eugenics: a cross-cultural view.

    Science.gov (United States)

    Raz, Aviad E

    2005-06-01

    This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations "of'' and "for'' people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the "two-fold view'' of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients--such as the view of the 'disability critique' as well as of the "two-fold view of disability''--should strengthen the significance of nondirectiveness.

  20. Breast cancer screening: cultural beliefs and diverse populations.

    Science.gov (United States)

    Simon, Cassandra E

    2006-02-01

    This article addresses the role of culture in breast cancer screening behavior among African American, American Indian/Alaskan Native, Asian American/Pacific Islander, and Hispanic/ Latina women. It reviews cultural beliefs, attitudes, and knowledge and their relative influence on women's decisions regarding health tests. The article explores how to build on these cultural values, simultaneously mediating their barrier effects. Building on cultural explanatory models of health behavior, suggestions for incorporating culture into early detection strategies for ethnically and racially diverse, underserved women are provided. In addition, the article offers four practice principles that can be used with all of the groups: inclusion and use of indigenous support; cross-application of approaches for diverse populations; honor and incorporation of culture; and attention to language, literacy, and cultural information.

  1. A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program.

    Science.gov (United States)

    Ayres, Alice C; Whitty, Jennifer A; Ellwood, David A

    2014-10-01

    Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program. To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice. A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses (PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness. Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL. The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening. © 2014 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  2. Replacing Alpha-Fetoprotein With Alpha-Fetoprotein-L3 Increases the Sensitivity of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Huai, Lei; Leng, Jianhang; Ma, Shenglin; Huang, Fang; Shen, Junya; Ding, Yu

    This study aimed to investigate the serum concentration of alpha-fetoprotein (AFP)-L3 in midterm pregnancies and its potential application in prenatal trisomy screening. The serum samples from 27 women with trisomy 21 fetuses and 800 women with normal fetuses were examined to measure the concentrations of AFP, AFP-L3, human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A. The screening results of various tests consisting of these markers were analyzed. In normal pregnancies within 15-20 weeks of gestation, the medians of serum AFP-L3 were 4.63, 5.70, 5.78, 6.58, 7.03, and 7.25 pg/mL. The median of AFP-L3 MoM in the trisomy 21 group was 0.46, which was significantly lower than the value of 1 in the normal group (P < 0.05). When using a cutoff value of 1/270, the sensitivity of the triple marker test (AFP, hCG, uE3) was improved from 74% to 81% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 5.4% to 6.8%. Similarly, the sensitivity of the quad marker test (AFP, hCG, uE3, inhibin-A) was improved from 81% to 89% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 4.6% to 5.6%. Serum AFP-L3 concentration increases along with more weeks of gestation in the midterm pregnancies. Trisomy 21 screening tests with AFP replaced by AFP-L3 have higher sensitivities at the expense of slightly increased false-positive rates. This improvement in screening may help to better prepare the parents and caregivers for the special needs of newborns with trisomy 21.

  3. Denver Developmental Screening Test: Cultural Variations in Southeast Asian Children.

    Science.gov (United States)

    Miller, Virginia; And Others

    1984-01-01

    The Denver Developmental Screening Tests (DDST) was administered to 25 Southeast Asian children (one to five years old) and scores of 150 other DDSTs performed on Southeast Asian children were reviewed. Findings suggested that scores may reflect differences in social and cultural experiences between these children and the standardization sample.…

  4. Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening.

    Science.gov (United States)

    Cohen, Paul A; Flowers, Nicola; Tong, Stephen; Hannan, Natalie; Pertile, Mark D; Hui, Lisa

    2016-08-24

    Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigate whether plasma DNA sequencing with a clinical whole genome NIPT platform can detect early- and late-stage high-grade serous ovarian carcinomas (HGSOC). This is a case control study of prospectively-collected biobank samples comprising preoperative plasma from 32 women with HGSOC (16 'early cancer' (FIGO I-II) and 16 'advanced cancer' (FIGO III-IV)) and 32 benign controls. Plasma DNA from cases and controls were sequenced using a commercial NIPT platform and chromosome dosage measured. Sequencing data were blindly analyzed with two methods: (1) Subchromosomal changes were called using an open source algorithm WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR). Genomic gains or losses ≥ 15 Mb were prespecified as "screen positive" calls, and mapped to recurrent copy number variations reported in an ovarian cancer genome atlas. (2) Selected whole chromosome gains or losses were reported using the routine NIPT pipeline for fetal aneuploidy. We detected 13/32 cancer cases using the subchromosomal analysis (sensitivity 40.6 %, 95 % CI, 23.7-59.4 %), including 6/16 early and 7/16 advanced HGSOC cases. Two of 32 benign controls had subchromosomal gains ≥ 15 Mb (specificity 93.8 %, 95 % CI, 79.2-99.2 %). Twelve of the 13 true positive cancer cases exhibited specific recurrent changes reported in HGSOC tumors. The NIPT pipeline resulted in one "monosomy 18" call from the cancer group, and two "monosomy X" calls in the controls. Low coverage plasma DNA sequencing used for prenatal testing detected 40.6 % of all HGSOC, including 38 % of early stage cases. Our

  5. Feasibility Study on Prenatal Cardiac Screening Using Four-Dimensional Ultrasound with Spatiotemporal Image Correlation: A Multicenter Study.

    Directory of Open Access Journals (Sweden)

    Liqing Zhao

    Full Text Available This study aimed at investigating the feasibility of using the spatiotemporal image correlation (STIC technology for prenatal cardiac screening, finding factors that influence the offline evaluation of reconstructed fetal heart, and establishing an optimal acquisition scheme.The study included 452 gravidae presenting for routine screening at 3 maternity centers at 20-38 gestational weeks. The factors influencing the quality of STIC volume data were evaluated using t test, chi-square test, and logistic regression analysis. The predictive power was evaluated using the receiver operating characteristic (ROC curve.Among the 452 fetuses enrolled, 353 (78.1% were identified as successful and 99 (21.9% as failure of evaluation of the reconstructed fetal heart. The total success rate of qualified STIC images was 78.1%. The display rates of reconstructed cardiac views were 86.5% (four-chamber view, 92.5% (left ventricular outflow tract view, 92.7% (right ventricular outflow tract view, 89.9% (three-vessel trachea view, 63.9% (aortic arch view, 81.4% (ductal arch view, 81% (short-axis view of great vessels, 80.1% (long-cava view, and 86.9% (abdominal view. A logistic regression analysis showed that more than 28 gestational weeks [OR = 0.39 (CI 95% 0.16, 0.19, P = 0.035], frequent fetal movements [OR = 0.37 (CI 95% 0.16, 0.87, P = 0.022], shadowing [OR = 0.36 (CI 95% 0.19, 0.72, P = 0.004], spine location at 10-2 o'clock [OR = 0.08 (CI 95% 0.02, 0.27, P = 0.0], and original cardiac view [OR = 0.51 (0.25, 0.89, P = 0.019] had a significant impact on the quality of STIC. The area under the ROC curve was 0.775.Fetal cardiac-STIC seems a feasible tool for prenatal screening of congenital heart diseases. The influence factors on the quality of STIC images included the intensity of training, gestational age, fetal conditions and parameter settings. The optimal acquisition scheme may improve the application and widespread use of cardiac STIC.

  6. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie;

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...... regarding prenatal detection rate and accuracy, as well as correlation with nuchal translucency (NT) thickness. RESULTS: Out of 86 121 infants, 831 were born with CHD (0.96%). The prenatal detection rate of 'all CHD' was 21.3%, of 'Major CHD' 47.4%. Full agreement between prenatal and postnatal....../autopsy findings was found in 96% of prenatally detected diagnoses. An NT thickness >95(th) percentile was found in 15.0% fetuses with 'Major CHD'. Of 'Major CHDs' detected prenatally, 77% were picked up at the time of the malformation scan at weeks 18-21. CONCLUSIONS: Nearly half of 'Major CHDs' were detected...

  7. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  8. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  9. Is prenatal screening for Down syndrome needed in young pregnant women?

    Directory of Open Access Journals (Sweden)

    Rekha S. Dhamnaskar

    2016-12-01

    Conclusions: It can be concluded that the triple marker test is indeed only a screening test for the DS and that it has to be confirmed with the help of chromosomal analysis. The higher maternal age is an important parameter in DS but nowadays, even ones with a lower maternal age can also have a child with DS. So, in general, now all women are recommended to go for biochemical screening during their pregnancy. [Int J Res Med Sci 2016; 4(12.000: 5393-5398

  10. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

    Science.gov (United States)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne; Ekelund, Charlotte K; Tabor, Ann

    2017-01-01

    The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment. © 2016 S. Karger AG, Basel.

  11. Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program.

    Science.gov (United States)

    Prusa, A-R; Kasper, D C; Pollak, A; Olischar, M; Gleiss, A; Hayde, M

    2015-02-01

    Prenatal diagnosis of congenital toxoplasmosis (CT) influences therapeutical management in pregnant women and their offspring. In Austria, a nationwide serological healthcare program to identify potential maternal toxoplasma infections during pregnancy exists. We assessed the clinical use of amniocentesis for toxoplasma-specific polymerase chain reaction (PCR) on amniotic fluid to detect CT. Data on serology, amniocentesis, PCR, complications, treatment, and paediatric clinical outcome were collected retrospectively among the birth cohort 1992-2008. There were 1386 women with amniocentesis, but only in 707 cases (51%) was acute maternal infection confirmed serologically. A high proportion (49%) of amniocenteses with negative PCR results in women with chronic infection or seronegativity were performed without clinical justification for the women or their foetuses. The positive and negative predictive values of PCR were 94.4% and 99.3%, respectively. Thirty-nine foetuses with CT, including four deaths, were reported. The five PCR-negative but infected infants were identified by the serological and clinical follow-up program. Thirty percent of amniocenteses were performed in the third trimester, and gestational age or treatment did not influence PCR sensitivity. Amniocentesis is indicated in women with acute maternal infection, and facilitated targeted therapies in pregnant women and their offspring. In women with late toxoplasma infection, negative amniotic fluid PCR made treatment of infants unnecessary. Serological and clinical follow-up of infants is important to confirm the infection status of the infant. Recommendations, based on our 17-year experience, to improve the current diagnostic strategies and to reduce unnecessary amniocentesis, are given.

  12. MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21.

    Science.gov (United States)

    Kazemi, Mohammad; Salehi, Mansoor; Kheirollahi, Majid

    2017-01-01

    This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real- time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screening tests, were selected randomly. For each sample whole DNA extraction (mother and fetus), fragmentation of DNA, immunoprecipitation of methylated DNA and real- time qPCR using 7 primer pairs was performed. D-value for each sample was calculated using the following formula D = -4.908+ 0.254 XEP1+ 0.409 XEP4+ 0.793 XEP5+ 0.324 XEP6+ 0.505 XEP7+ 0.508 XEP9+ 0.691 XEP12. In all normal cases, D value was negative, while it was positive in all trisomy cases. Therefore, all normal and trisomy 21 cases were classified correctly which correspond to 100% specificity and 100% sensitivity for this method. The MeDIP real-time qPCR method has provided the opportunity for noninvasive prenatal diagnosis of fetal trisomy 21 to be potentially employed into the routine practice of diagnostic laboratories.

  13. Prenatal Screening for Chromosomal Abnormalities in Tabriz, North-West of Iran

    Directory of Open Access Journals (Sweden)

    Zahra Fardyazar

    2013-09-01

    Full Text Available Background: Several studies have indicated that when compared to non-consanguinous marriage, consanguinous marriage may lead to a higher incidence of congenital abnormalities. The study was performed to evaluate few screening tests to estimate the risk of chromosomal abnormalities in the first trimester compared between familial and non-familial marriages. Materials and Methods: In this cross sectional study, 300 pregnant women with singleton pregnancy presenting to Tabriz Al-Zahra hospital from 2007 to 2009 were enrolled as study population. The participants were evaluated about chromosomal malformations using a combination of NT (Nuchal Translucency, PAPP-A (Pregnancy-Associated Plasma Protein A, and free beta- human chorionic gonadotropin (β-hCG. In positive screening test results, the participants underwent fetal karyotyping using amniocentesis or chorionic villi sampling (CVS.Results: Pregnancies with higher risk were observed more among non-consanguineous marriages. The maternal age was not found to be a determinant in this regard. NT and free β-hCG values (but not PAPP-A were significantly different between the two study groups. The triple screening test had a sensitivity of 100%. There were two cases of Down syndrome both belonging to the maternal age less than 35 years and non-consanguineous marriages.Conclusion: Considering that a statistically significant association was not observed between abnormal test results and pregnancy complications (p=0.73, it seems that it is essential to use screening tests in all pregnant women. Especially that the only two pregnancies with Down syndrome in our study were under 35 years of age.

  14. Microfluidic cell culture systems with integrated sensors for drug screening

    Science.gov (United States)

    Grist, Samantha; Yu, Linfen; Chrostowski, Lukas; Cheung, Karen C.

    2012-03-01

    Cell-based testing is a key step in drug screening for cancer treatments. A microfluidic platform can permit more precise control of the cell culture microenvironment, such as gradients in soluble factors. These small-scale devices also permit tracking of low cell numbers. As a new screening paradigm, a microscale system for integrated cell culture and drug screening promises to provide a simple, scalable tool to apply standardized protocols used in cellular response assays. With the ability to dynamically control the microenvironment, we can create temporally varying drug profiles to mimic physiologically measured profiles. In addition, low levels of oxygen in cancerous tumors have been linked with drug resistance and decreased likelihood of successful treatment and patient survival. Our work also integrates a thin-film oxygen sensor with a microfluidic oxygen gradient generator which will in future allow us to create spatial oxygen gradients and study effects of hypoxia on cell response to drug treatment. In future, this technology promises to improve cell-based validation in the drug discovery process, decreasing the cost and increasing the speed in screening large numbers of compounds.

  15. Cost effectiveness, the economic considerations of prenatal screening strategies for trisomy 21 in the Czech Republic.

    Science.gov (United States)

    Dhaifalah, I; Májek, O

    2012-02-01

    To perform an incremental cost-effectiveness analysis for screening of trisomy 21 (Down syndrome) in the Czech Republic through a decision tree model designed to evaluate the costs and potential risks involved in using different strategies of screening. METHODS AND DATA ANALYSIS: Using decision-analysis modelling, we compared the cost-effectiveness of nine possible screening strategies for trisomy 21: 1. maternal age > or = 35 in first trimester, 2. maternal age > or = 35 in second trimester, 3. second trimester triple test (AFP, hCG, mu E3), 4. nuchal translucency measurement, 5. first trimester serum test (PAPP-A, fbeta-hCG), 6. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) not in OSCAR manner, 7. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) in OSCAR manner, 8. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) not in OSCAR manner, 9. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) in OSCAR manner. The analysis is performed from a health care payer perspective using relevant cost and outcomes related to each screening strategy in a cohort of 118,135 pregnant women presenting around 12 weeks of pregnancy in the Czech Republic. Using a computer spreadsheet Excel (Microsoft Corporation, Redmond, Wash) the following outcomes: overall cost-effectiveness, trisomy 21 cases detected, trisomy 21 live birth prevented and euploid losses from invasive procedures were obtained. The incremental cost-effectiveness ratios were also calculated by a comparison of strategy nine and strategy three (the current practice in the Czech Republic). Under the baseline assumptions, the model favors strategy nine as the most cost-effective trisomy 21 screening strategy. This strategy was the least expensive strategy per trisomy 21 cases averted. Although all the other strategies cost less, they all had lower trisomy 21 detection rates and higher numbers of procedure-related losses (except for

  16. [A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].

    Science.gov (United States)

    Zhou, Yu-qiu; Mo, Qiu-hua; Lu, Jin-han; Li, Li-yan; Liang, Xiong; Jia, Shi-qi; Xiao, Ge-fei; Zhou, Wan-jun; Xiao, Qi-zhi; Xu, Xiang-min

    2008-06-01

    To describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province. Couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe

  17. Prenatal alcohol exposure alters expression of neurogenesis-related genes in an ex vivo cell culture model.

    Science.gov (United States)

    Tyler, Christina R; Allan, Andrea M

    2014-08-01

    Prenatal alcohol exposure can lead to long-lasting changes in functional and genetic programs of the brain, which may underlie behavioral alterations seen in Fetal Alcohol Spectrum Disorder (FASD). Aberrant fetal programming during gestational alcohol exposure is a possible mechanism by which alcohol imparts teratogenic effects on the brain; however, current methods used to investigate the effects of alcohol on development often rely on either direct application of alcohol in vitro or acute high doses in vivo. In this study, we used our established moderate prenatal alcohol exposure (PAE) model, resulting in maternal blood alcohol content of approximately 20 mM, and subsequent ex vivo cell culture to assess expression of genes related to neurogenesis. Proliferating and differentiating neural progenitor cell culture conditions were established from telencephalic tissue derived from embryonic day (E) 15-17 tissue exposed to alcohol via maternal drinking throughout pregnancy. Gene expression analysis on mRNA derived in vitro was performed using a microarray, and quantitative PCR was conducted for genes to validate the microarray. Student's t tests were performed for statistical comparison of each exposure under each culture condition using a 95% confidence interval. Eleven percent of genes on the array had significantly altered mRNA expression in the prenatal alcohol-exposed neural progenitor culture under proliferating conditions. These include reduced expression of Adora2a, Cxcl1, Dlg4, Hes1, Nptx1, and Vegfa and increased expression of Fgf13, Ndn, and Sox3; bioinformatics analysis indicated that these genes are involved in cell growth and proliferation. Decreased levels of Dnmt1 and Dnmt3a were also found under proliferating conditions. Under differentiating conditions, 7.3% of genes had decreased mRNA expression; these include Cdk5rap3, Gdnf, Hey2, Heyl, Pard6b, and Ptn, which are associated with survival and differentiation as indicated by bioinformatics analysis

  18. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

    Science.gov (United States)

    Chen, Yi-Yao; Li, Shu-Yuan; Zhang, Lan-Lan; Shen, Ying-Hua; Chang, Chun-Xin; Xiang, Yu-Qian; Huang, He-Feng; Xu, Chen-Ming

    2017-01-01

    X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. PMID:28231257

  19. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  20. Significance of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases%羊水细胞培养用于染色体病产前诊断分析

    Institute of Scientific and Technical Information of China (English)

    刘慈; 刘义辉; 刘学军; 王振海; 张晓艳; 辛虹

    2014-01-01

    Objective To investigate the feasibility and necessity of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases in order to prevent the birth of fetus with chromosomal diseases .Methods The 293 specimens of amniotic cell obtained by amniocentesis from 293 pregnant women with prenatal diagnosis indications were cultured and analyzed .Results Among the 293 specimens of amniotic cell ,14 cases of chromosome abnormality were found , with the chromosome abnormality rate being 4.78%,including 9 cases of chromosome number abnormality and 5 cases of chromosomal structure abnormality .The chromosome abnormality rates were different in different groups with different prenatal diagnosis indications ,in which the chromosome abnormality rates were the highest in the group with one party of the couple with chromosome abnormality .Conclusion The amniotic cell culture and chromosome karyotype analysis are the effective means in prenatal diagnosis for chromosomal diseases in the pregnant women with prenatal diagnosis indications at mid trimester of pregnancy, moreover, the combined detection of serological screening , chromosome examination and ultrasonic inspection plays an important role in the prevention of child birth defects .%目的:探讨羊水细胞培养对孕中期孕妇进行产前诊断的可行性及必要性,防止染色体病患儿的出生。方法对293例有产前诊断指征的孕妇进行羊膜腔穿刺,采取羊水细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断。结果发现染色体异常14例,异常率4.78%,其中数目异常9例,结构异常5例,不同产前诊断指征分组中的异常率不同,以夫妇一方为染色体异常组异常率最高。结论妊娠中期对有产前诊断指征的孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段,而血清学筛查,染色体检查和超声检查三者相互结合对于预防出生缺陷意义重大。

  1. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

    DEFF Research Database (Denmark)

    Boyle, B; Morris, J K; McConkey, R

    2014-01-01

    OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14...

  2. Nicotine-induced alterations in the expression of nicotinic receptors in primary cultures from human prenatal brain.

    Science.gov (United States)

    Hellström-Lindahl, E; Seiger A; Kjaeldgaard, A; Nordberg, A

    2001-01-01

    The nicotinic receptor proteins and gene transcripts for the different nicotinic receptor subunits exist in human prenatal brain already at 4-5 weeks of gestation. The early presence of nicotinic receptors suggests an important role for these receptors in modulating dendritic outgrowth, establishment of neuronal connections and synaptogenesis during development. When measurements of nicotinic receptors using [(3)H]epibatidine (labelling both the alpha3 and alpha4 subtype) and [(3)H]cytisine (labelling the alpha4 subtype) were performed in intact cells from the cortex, subcortical forebrain and mesencephalon (7.5-11 weeks of gestation), the highest specific binding for both ligands was detected in cells from mesencephalon, followed by subcortical forebrain and cortex. The effects of nicotine exposure were studied in primary cultures of prenatal brain (7.5-11 weeks of gestation). Treatment with nicotine (1-100 microM) for 3 days significantly increased the specific binding of [(3)H]epibatidine and [(3)H]cytisine in cortical cells but not in cells from subcortical forebrain and mesencephalon brain regions, indicating region-specific differences in the sensitivity to nicotine exposure. Relative quantification of mRNA showed that the expression of the nicotinic receptor subunits alpha3 and alpha7, but not alpha4, was increased in cortical cells after nicotine treatment. These findings support the assumption of a potential risk of disturbance in the functional role of nicotinic receptors during brain development as a consequence of maternal smoking during pregnancy.

  3. Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study

    Institute of Scientific and Technical Information of China (English)

    QI Qing-wei; JIANG Yu-lin; ZHOU Xi-ya; LIU Jun-tao; YIN Jie; BIAN Xu-ming

    2013-01-01

    Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age.Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age (AMA).The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome (DS) and compare the trends of choice of screening and amniocentesis among AMAwomen.Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010.The gestational weeks were from 15 weeks to 20+6 weeks.The patients referred were grouped into a screening group (2107 cases) and an amniocentesis group (3297 cases) by their own decision.The prevalence of DS was compared between the two groups by chi-square test.Choice rates for each maternal age with trends were compared by regression analysis.Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54‰ (18/2107).Twentyfive cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7.58‰ (25/3297).No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group (P=0.928).The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group (1/131.88 vs.1/23.78).With the increase of the maternal age,the choice of amniocentesis increased while the choice of the screening showed an opposite trend.The choice of the AMA women between the screening and amniocantesis was significantly age relevant (P=0.012).Conclusions The second trimester serum screening in combination with maternal age was more effective than maternal age alone to screen for DS.We suggest educating the patients by recommending AMA women be informed of both screening and amniocentesis options.

  4. Prenatal Testing: Is It Right for You?

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-testing/art- ...

  5. Clinical Value of Prenatal Screen for Down' s Syndrome and Prenatal Diagnosis in the First and Second Trimester in Xiangtan%湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨

    Institute of Scientific and Technical Information of China (English)

    孙辉; 王淑媛; 熊敏

    2012-01-01

    Objective To explore the clinical value of prenatal screen and diagnosis in the first and second trimester for preventing birth defects. Methods The serum markers of 18247 cases of pregnant women were detected by automatic Time-Resolved Fluorescence (TRF) , and amniotic fluid culture test for fetal karyotype diagnosis in high-risk pregnant women were carried out. Results In the 18247 cases of pregnant women, the high risk of DS and trisomy 18 were 873 and 91 cases respectively. The high risk of NTD was 104 cases, and the total positive rate was 5. 85%. In the 583 cases of pregnant women who accepted the amniotic fluid culture for prenatal diagnosis, the definitive diagnosis of chromosome numerical aberration were 19 cases in which included 13 cases of DS, 2 cases of trisomy and 4 cases of sex chromosomal abnormalities. The chromosomal structural abnormality were 13 cases and spina bifida or anencephaly were 13 cases, which was diagnosed by type-B ultrasonic. Conclusion Prenatal screen and diagnosis are effective predictors for adverse pregnancy outcome and have significant clinical value to prevent congenital defects in infants.%目的 探讨孕早中期孕妇联合产前筛查与产前诊断对预防出生缺陷的实用价值.方法 应用全自动时间分辨荧光免疫法对18247例孕妇血清标志物联合筛查,高风险孕妇通过羊水产前诊断进行效果评价.结果 筛查出唐氏综合征高风险873例,18-三体高风险91例,NTD高风险者104例,总阳性率5.85%.有583例孕妇接受羊水产前诊断,占筛查高危的60.5%.确诊胎儿染色体数目异常19例(唐氏综合征13例、18-三体综合征2例、性染色体异常4例);染色体结构异常13例;B超确诊脊柱裂或脑畸形13例.结论 联合产前筛查与产前诊断是预测不良妊娠结局的有效指标,对降低出生缺陷有重要的临床意义.

  6. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; MacDonald, W Kim; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Popa, Vanessa

    2014-10-01

    Objectif : Fournir, aux professionnels de la santé des domaines de l’obstétrique et de la génétique, des lignes directrices et des recommandations en ce qui a trait au dépistage / diagnostic prénatal et à la prise en charge obstétricale du dysraphisme spinal ouvert / fermé (DSOF) chez le fœtus. Options : La présente analyse englobe les techniques de dépistage / diagnostic prénatal qui sont actuellement utilisées aux fins de la détection du DSOF, y compris le dépistage des concentrations sériques en alphafoetoprotéines chez la mère, l’échographie, l’imagerie par résonance magnétique visant le fœtus et l’amniocentèse. Issues : Améliorer le dépistage / diagnostic prénatal et la prise en charge obstétricale du DSOF, tout en prenant en considération les soins offerts à la patiente, l’efficacité, les coûts et les interventions de soins. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais entre 1977 et 2012. Les recherches ont été mises à jour de façon régulière et ont été intégrées à la directive clinique jusqu’au 30 novembre 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d

  7. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    OpenAIRE

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A.S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A; Jinnett, K. N.; Demko, Z.; Benn, P.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk re...

  8. 孕中期产前筛查的价值%Value of prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    左振伟; 杜焕青; 白洁; 侯灵彤

    2012-01-01

    目的:探讨产前筛查在孕中期产前诊断中的价值.方法:2006年1月~ 2009年9月对2 880例孕16~20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数.高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊.结果:共有2 880例孕妇接受筛查.其中筛出唐氏综合征(DS)高风险5例,经羊水细胞染色体核型分析确诊2例;18-三体高风险2例,确诊1例:神经管缺陷(NTD)高风险2例,确诊2例.所有筛查孕妇均随访至胎儿出生,1例筛查阴性的孕妇分娩唐氏儿.结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施.%Objective; To explore the value of prenatal screening in prenatal diagnosis of women during the second trimester of pregnancy. Methods; A total of 2 880 women during 16 -20 gestational weeks received prenatal screening from January 2006 to September 2009, the serum levels of alpha fetoprotein (AFP) , free human ($ gonadotropin (F - pHCG) , and free estriol were detected, the risk index was evaluated combined with other factors, such as age and body weight. The high risk pregnant women underwent anmiocentesis, then they were diagnosed definitely by chromosomal karyotype test of amniotic fluid cells. Results ? A total of 2 880 pregnant women received prenatal screening, five pregnant women were found with high risk of Downs syndrome, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely; two pregnant women were found with high risk of trisomy 18, after chromosomal karyotype test of amniotic fluid cells, one pregnant woman was diagnosed definitely; two pregnant women were found with high risk of neural tube defect, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely. All the pregnant women were

  9. Screening culture filtrates of fungi for activity against Tylenchulus semipenetrans

    Energy Technology Data Exchange (ETDEWEB)

    Verdejo-Lucas, S.; Viera, A.; Stchigel, A. M.; Sorribas, F. J.

    2009-07-01

    Culture filtrates of 20 fungi isolated from citrus soils were screened for their activity against Tylenchulus semipenetrans in both in vitro and greenhouse tests. The filtrates of Talaromyces cyanescens (isolates 2-4 and 2-5), Paecilomyces lilacinus, Chaetomium robustum, Acremonium strictum, Engyodontium album, Myrothecium verrucaria, Emericella rugulosa, and Tarracomyces gigaspora consistently inhibited the motility of second-stage juveniles at various concentrations of the filtrate. Dose-response models were used to determine the filtrate concentration required to inhibit the motility of 50% of the juveniles (CI50). The culture filtrate of P. lilacinus showed the highest activity with a CI50 value of 58% that differed from that of C. robustum (CI50 = 68%), and A. strictum CI50 = 82%. The culture filtrates of P. lilacinus, E. album, and T. cyanescens 2-5 maintained their activity when autoclaved at 120 degree centigrade for 20 min. The autoclaved filtrate of T. cyanescens 2-4 was more effective at inhibiting juvenile motility (CI50 = 28%) than that of T. cyanescens 2-5 (CI50 = 80%), C. robustum (CI50 = 72 %) and P. lilacinus (CI50 = 72%). The culture filtrate of T. cyanescens 2-4 also inhibited egg hatching. Nematode reproduction on Cleopatra mandarin and Carrizo citrange were respectively reduced by the culture filtrate of P. lilacinus and the autoclaved filtrate of T. cyanescens 2-4. These results support the hypothesis that soil fungi may contribute to regulate nematode densities by the production of secondary metabolites with nematicidal activity. (Author) 30 refs.

  10. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  11. Culture in Prenatal Development: Parental Attitudes, Availability of Care, Expectations, Values, and Nutrition

    Science.gov (United States)

    Bravo, Irene M.; Noya, Melissa

    2014-01-01

    Background: Culture is a universal phenomenon, but most interest about culture during pregnancy has focused on medical care, neglecting psychological aspects of normative development. Objective: The purpose of this article was to examine normative gestational experiences using the framework of a broaden and build model of culture, positive…

  12. Culture in Prenatal Development: Parental Attitudes, Availability of Care, Expectations, Values, and Nutrition

    Science.gov (United States)

    Bravo, Irene M.; Noya, Melissa

    2014-01-01

    Background: Culture is a universal phenomenon, but most interest about culture during pregnancy has focused on medical care, neglecting psychological aspects of normative development. Objective: The purpose of this article was to examine normative gestational experiences using the framework of a broaden and build model of culture, positive…

  13. Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program.

    Science.gov (United States)

    Adhikari, Emily H; Nelson, David B; Johnson, Kathryn A; Jacobs, Sara; Rogers, Vanessa L; Roberts, Scott W; Sexton, Taylor; McIntire, Donald D; Casey, Brian M

    2017-03-01

    Zika virus infection during pregnancy is a known cause of congenital microcephaly and other neurologic morbidities. We present the results of a large-scale prenatal screening program in place at a single-center health care system since March 14, 2016. Our aims were to report the baseline prevalence of travel-associated Zika infection in our pregnant population, determine travel characteristics of women with evidence of Zika infection, and evaluate maternal and neonatal outcomes compared to women without evidence of Zika infection. This is a prospective, observational study of prenatal Zika virus screening in our health care system. We screened all pregnant women for recent travel to a Zika-affected area, and the serum was tested for those considered at risk for infection. We compared maternal demographic and travel characteristics and perinatal outcomes among women with positive and negative Zika virus tests during pregnancy. Comprehensive neurologic evaluation was performed on all infants delivered of women with evidence of possible Zika virus infection during pregnancy. Head circumference percentiles by gestational age were compared for infants delivered of women with positive and negative Zika virus test results. From March 14 through Oct. 1, 2016, a total of 14,161 pregnant women were screened for travel to a Zika-affected country. A total of 610 (4.3%) women reported travel, and test results were available in 547. Of these, evidence of possible Zika virus infection was found in 29 (5.3%). In our population, the prevalence of asymptomatic or symptomatic Zika virus infection among pregnant women was 2/1000. Women with evidence of Zika virus infection were more likely to have traveled from Central or South America (97% vs 12%, P Zika virus infection. Additionally, there was no difference in mean head circumference of infants born to women with positive vs negative Zika virus testing. No microcephalic infants born to women with Zika infection were identified

  14. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

    NARCIS (Netherlands)

    Bayindir, Baran; Dehaspe, Luc; Brison, Nathalie; Brady, Paul; Ardui, Simon; Kammoun, Molka; van der Veken, Lars; Lichtenbelt, Klaske; van den Bogaert, Kris; van Houdt, Jeroen; Peeters, Hilde; van Esch, Hilde; de Ravel, Thomy; Legius, Eric; Devriendt, Koen; Vermeesch, Joris R.

    2015-01-01

    Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test

  15. Prenatal screening and diagnosis analysis of 56 cases of older pregnant women%56例高龄孕妇的产前筛查与诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    吕冬梅

    2014-01-01

    Objective To study the elderly and pregnant women syndrome prenatal screening for Down diagnostic results analysis, provide reference for clinical diagnosis and treatment. Methods In our hospital in January 2012-2013 January Obstetrics prenatal check 56 cases of advanced maternal age, as a pilot study. All subjects underwent amniotic fluid culture and karyotype analysis. Statistical analysis of the results as well as chromosomal karyotype abnormality rate correlation with maternal age. Results 56 cases studied in 17 cases of chromosomal abnormalities, chromosomal abnormality rate of 30.36%; maternal age less than 35 years the rate of 19.23%fetal chromosomal abnormalities, maternal age older than 35 years the rate of 40.00%fetal chromosomal abnormal-ities. Conclusion Maternal age increases the rate of increase in fetal chromosomal abnormalities, it is necessary for advanced ma-ternal age, prenatal screening and diagnostic analysis of results.%目的:研究高龄孕妇进行唐氏综合症产前筛查以及诊断结果的分析,为临床诊断和治疗提供可参考依据。方法选取于我院2012年1月-2013年1月妇产科进行产前检查的56例高龄产妇,作为试验研究对象。所有研究对象均进行羊水培养和核型分析。统计核型分析结果以及染色体异常率与产妇年龄的相关性。结果56例研究对象中17例染色体异常,染色体异常率30.36%;年龄小于35岁产妇的胎儿染色体异常率19.23%,年龄大于35岁产妇的胎儿染色体异常率40.00%。结论产妇年龄增大胎儿染色体异常率上升,有必要对高龄产妇进行产前筛查以及诊断结果分析。

  16. Coping with worry while waiting for diagnostic results: a qualitative study of the experiences of pregnant couples following a high-risk prenatal screening result.

    Science.gov (United States)

    Lou, Stina; Nielsen, Camilla P; Hvidman, Lone; Petersen, Olav B; Risør, Mette B

    2016-10-21

    It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty. Qualitative, semi-structured interviews with 16 high-risk couples who underwent diagnostic testing. The couples were recruited at a university hospital fetal medicine unit in Denmark. Data were analysed using thematic analysis. All couples reported feeling worried and sad upon receiving a high-risk screening result. While waiting for diagnostic results, the couples focused on coming to their own understanding of the situation and employed both social withdrawal and social engagement as strategies to prevent worry from escalating. Additionally, couples used gratitude, reassuring reasoning and selective memory as means to maintain hopes for a good outcome. Discussions about what to do in case of an abnormal test result were notably absent in the accounts of waiting. This bracketing of the potential abnormal result allowed the couples to hold on to a 'normal' pregnancy and to employ an 'innocent-till-proven-guilty' approach to their worries about the fetus's health. None of the interviewed couples regretted having prenatal screening and all of them expected to have prenatal screening in a future pregnancy. The couples in this study did not put the pregnancy mentally 'on hold'. Worry and uncertainty must be understood as managed through a diverse range of practical and emotional strategies that change and overlap in the process of waiting. Clinicians may support appropriate ways of coping with worry and waiting through empathetic and empowering clinical

  17. Impact of Culture on Breast Cancer Screening in Chinese American Women

    Science.gov (United States)

    2004-09-01

    of sum scores on the scale indicates more positive views about cancer screening. aCultural views are continuous scores ranging from 0 to 100 points...Higher mean of sum scores on the scale indicates more positive views about cancer screening. aCultural views are continuous scores ranging from 0 to

  18. Down analysis of 7859 cases of second trimester screening and prenatal diagnosis in Huaihua Region%怀化地区7859例孕中期唐氏筛查和产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    唐勇; 冯宗辉; 向文秀; 李金英

    2011-01-01

    amniotic fluid culture, fetal karyotype analysis. And continue to track the fetal and maternal conditions. Results; 7859 cases of pregnant women, screening to high risk of 732 cases, positive rate of screening for Down 7. 65% (601/7859). 367 cases in which receiving prenatal diagnosis of amniotic fluid or umbilical cord puncture, screening high-risk pregnant women accounted for 50. 13% (367/732) ; found 16 cases of fetal chromosomal abnormalities, abnormal detection rate of 4. 36 (16/367) , 6 cases of Down's syndrome, 5 cases of 18 -trisomy, Turner's syndrome in 4 case, lease of chromosome 9 pericentric inversion. Down's screening of high risk and low risk of adverse pregnancy outcomes were 6. 15% and 1.46% , was significantly different ( <0. 05). Conclusion; The abnormal second trimester prenatal screening for fetal to predict adverse pregnancy outcomes and effective index. Cord blood with amniotic fluid culture or cultivation of prenatal diagnostic techniques and methods to prevent birth defects of children bom to improve the quality of the population has important clinical value.

  19. Midwives unable to overcome language barriers in prenatal care

    Directory of Open Access Journals (Sweden)

    Mirjam P. Fransen

    2012-09-01

    Full Text Available

    Background: the present study aims to explore to what extent midwives experience barriers in providing information about prenatal screening for Down syndrome to women from diverse ethnic backgrounds, and to assess their competences to overcome these barriers.

    Methods: midwives from 24 Dutch midwifery practices in Rotterdam completed a structured webbased questionnaire (n=57. Data were obtained on perceived ethnic-related differences and barriers in providing information on prenatal screening, preparedness to provide cultural competent care, and the use of translated materials and professional translators. A group interview was conducted to further explore the results emerging from the questionnaire (n=23.

    Results: almost all midwives (95% experienced barriers in informing women from non-Western ethnic backgrounds about prenatal screening. Midwives especially felt incompetent to provide information to pregnant women that hardly speak and understand Dutch. In total 58% of the midwives reported that they never used translated information materials and 88% never used professional interpreters in providing information on prenatal screening. The main reasons for this underutilization were unawareness of the availability of translated materials and unfamiliarity with the use of professional interpreters.

    Conclusions: although language barriers were reported to be the main difficulty in providing cultural competent care to patients from diverse ethnic backgrounds, only a minority of the midwives used translated materials or professional interpreters. In order to enable all pregnant women to make an informed decision whether or not to participate in prenatal screening, midwives’ competences to address language barriers should be increased.

  20. 产前筛查5928例结果与影响因素分析%Analysis of prenatal screening results and influence factors of 5 928 cases

    Institute of Scientific and Technical Information of China (English)

    杭春梅

    2015-01-01

    目的:探讨使用软件模型对孕中期孕妇产前筛查唐氏综合征的风险评估价值。方法:收治孕妇5928例,分别对孕妇的多项血清学指标进行检测,并以之为独立变量,用LifeCycle评估软件,对孕中期胎儿发生唐氏综合征的风险进行评估。结果:5928例孕妇中,唐氏综合征高风险孕妇252例,筛查的阳性率4.25%;产前经羊水穿刺细胞培养确诊2例。结论:孕中期孕妇进行唐氏综合征的筛查具有重要作用,能够对胎儿患唐氏综合征的风险进行有效估计和预测,是预防唐氏综合征的重要途径。%Objective:To explore the risk assessment value of soft machine model used for prenatal screening for Down's syndrome in the second trimester pregnant women.Methods:5 928 cases of pregnant women were selected.A number of serological indexes of pregnant women were detected.They were considered as independent variables,with LifeCycle assessmen software. Down's syndrome risk was assessed at the second trimester.Results:In 5 928 cases of pregnant women,pregnant women with high risk of Down's syndrome were in 252 cases,and the positive rate of screening was 4.25%;2 cases were confirmed by prenatal amniocentesis cell culture.Conclusion:Screening for Down's syndrome of the second trimester pregnant women has an important role.It can effectively evaluate the risk of Down syndrome rates.It is an important way to prevent Down's syndrome.

  1. 3595例孕中期妇女产前筛查结果分析%Analysis of prenatal screening results in 3 595 middle pregnant women

    Institute of Scientific and Technical Information of China (English)

    曹锋; 陈炜

    2014-01-01

    目的:通过检测孕中期孕母血清甲胎蛋白(AFP)、β-人绒毛膜促性腺激素(β-HCG)、非偶联雌三醇(uE3)水平,探讨产前筛查临床应用价值。方法采用化学发光法对3595例孕中期孕妇进行血清 AFP、β-HCG、uE3定量检测,结合孕妇年龄、孕周、体质量等因素,计算风险值。随后对高风险孕妇进行羊水细胞染色体核型分析及 B 超检查。结果3595例孕妇唐氏综合征(DS)、爱德华综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.70%(133/3595)、0.11%(4/3595)和1.44%(52/3595)。产前筛查189例为高风险孕妇,其中87例进行染色体核型分析、超声影像等产前诊断,确诊6例,其中 DS 3例、NTD 2例、ES 1例。结论产前筛查是一种无创伤性检测手段,对避免 DS、ES、NTD 患儿出生有重要临床应用价值。%Objective To explore the clinical value of prenatal screening by detecting α-fetoprotein(AFP),β-human chorionic gonadotrophin(β-HCG)and free estriol(u-E3)levels in the second trimester of pregnancy.Methods AFP,β-HCG and u-E3 were de-tected in 3 595 second trimester pregnant women by chemiluminescence.The risk value was calculated by combining with the factors of age,pregnant weeks,body weight,etc.Then the high-risk pregnant women were carried out the amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination.Results Among 3 595 pregnant women,the screening positive rates of Down′s syndrome(DS),Edward′s syndrome(ES)and neural tube defects(NTD)were 3.70%(133/3 595),0.11%(4/3 595)and 1.44%(52/3 595)respectively.In the prenatal screening,there were 189 cases of high risk pregnant women,among them 87 cases were per-formed the prenatal diagnosis of amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination,6 cases were defi-nitely diagnosed,in which 3 cases were DS,2 cases were NTD and 1 case was ES

  2. Epidemiologic aspects of neural tube defects in the United States: changing concepts and their importance for screening and prenatal diagnostic programs

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.; Strassburg, M.A.

    1983-09-01

    This report considers several major epidemiologic aspects of neural tube defects (NTDs). After examining briefly the approaches and goals of epidemiology the traditional epidemiologic concepts of NTDs are reviewed and new interpretations of the epidemiology of these defects is suggested. Three major topics are addressed: (1) that much of our knowledge of the epidemiology of the NTDs comes from areas or periods of high rates of occurrence and that generalizations based on these data may not be applicable to low incidence situations; (2) that the etiology of these defects is multifactorial, involving interaction between genetic and nongenetic factors which may differ in their relative importance between populations; and (3) that anencephalus and spina bifida may be more epidemiologically and etiologically distinct than is usually appreciated. A final consideration deals with some recent contributions of epidemiology to screening and prenatal diagnosis programs.

  3. 唐氏征筛查高危孕妇的快速产前诊断%Rapid prenatal diagnosis for the high risk gravid of Down's screening

    Institute of Scientific and Technical Information of China (English)

    周丽颖; 贾婵维; 余兰; 梁毓; 兰永连; 李颖; 王树玉

    2012-01-01

    目的 通过荧光原位杂交(FISH)技术与细胞学对照,研究FISH对于唐氏征筛查高危患者产前诊断的应用价值.方法 应用国产FISH探针,平行细胞染色体分析进行1637名唐氏征筛查高危孕妇的产前诊断.主要检测21,13,18,X和Y染色体.结果 1637例产前诊断病历,共检出非整倍体异常核型33例,FISH检测与细胞染色体分析结果一致.唐筛高危合并高龄易发生染色体非整倍体异常.结论 荧光原位杂交探针应用于唐氏征筛查高危孕妇检测染色体非整倍体异常结果可靠.%Objective To evaluate the application of fluorescence in situ hybridization (FISH) in prenatal diagnosis of chromosome abnormalities. Meanwhile, cytogenetic karyotype analysis was performed as control. Methods; 5 chromosomes (21, 13, 18, X and Y) were detected with FISH. 1637 patients were selected for prenatal diagnosis. Results; Of all 1637 samples, 33 samples were shown with abnormal karyotypes. Results; Of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes. Abnormal karyotypes was common in gravid of high risk of Downs screening with advanced age. Conclusion; FISH probes can effectively detect abnormal karyotypes in high risk gravid of Downs screening.

  4. 唐氏综合征产前筛查的研究进展%Research progress of Down's syndrome in prenatal screening

    Institute of Scientific and Technical Information of China (English)

    刘维娜

    2011-01-01

    Down's syndrome (DS), one of the autosomal diseases, is one of the most common genetic type of congenital mental retardation. It occupies for 10%-15% in the children suffering from mental retardation. This disease severely results in birth defects, which affects the mental and physical development and leads to disability or death. There is no effective therapy method in clinic yet. Therefore, it is very important for aristogenesis in prenatal screening and diagnosis for the high-risk patients and termination of pregnancy of women pregnant with DS. The latest research on prenatal screening of DS was reviewed in this paper.%唐氏综合征(Down's syndrome,DS)是一种最常见的常染色体遗传病之一,是先天性智力低下最常见的遗传类型.10%~15%的智力低下儿童罹患该病.该疾病影响个体智能发育和体格发育,是致残和致死的严重出生缺陷,至今尚无有效的治疗方法.因此,对该疾病进行产前筛查,再对受检者中高风险者进行产前诊断,让妊娠DS患儿的孕妇终止妊娠,才能达到优生目的.本文就DS产前筛查的最新研究进展作一综述.

  5. Colorectal cancer screening among Korean American immigrants: unraveling the influence of culture.

    Science.gov (United States)

    Lee, Hee Yun; Im, Hyojin

    2013-05-01

    Screening for colorectal cancer (CRC) is underutilized among ethnic minority groups, particularly among Korean American immigrants. To explore the role of cultural and health beliefs in CRC screening, a structured questionnaire was administered to 281 Korean American immigrants aged between 50 and 88 in the New York metropolitan area. Results showed that 20% of the sample had undergone a fecal occult blood test within the past year, and 35% of the respondents had received a sigmoidoscopy and/or colonoscopy within the previous five years. Binary logistic regression analyses revealed significant predictors including health belief constructs, such as perceived seriousness of cancer and confidence in screening uptake, and gender-specific cultural beliefs and attitudes about CRC screening. Perceived helplessness lowered CRC screening among the women, while fatalism lowered it among the men. The findings reinforce a need for cultural-and gender-specific intervention strategies to increase CRC screening in this particularly vulnerable population.

  6. Prenatal parenting.

    Science.gov (United States)

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. 孕妇地中海贫血的产前筛选与诊断%Prenatal screen and diagnosis of thalassemia.

    Institute of Scientific and Technical Information of China (English)

    卢巧云; 徐婉芳

    2011-01-01

    目的 总结在我院进行产前体检者中开展地中海贫血的产前筛选与诊断结果.研究运用血红蛋白分析法进行孕妇产前筛选与诊断的意义.方法 对2 219对夫妇使用血红蛋白定量法结合基因分析,进行常规地中海贫血筛选.从中筛选出双方同为地中海贫血基因携带者的夫妇,建议其进行相关的产前诊断.对同意进行产前诊断的孕早期孕妇,采取其羊水或绒毛样本进行地中海贫血基因诊断;对同意进行产前诊断的孕中晚期孕妇,以B超下穿刺法抽取脐静脉血样进行地中海贫血基因诊断.结果 检查出夫妇一方为轻度α-地中海贫血基因携带者221例,检出率为4.98%;检查出夫妇一方为轻度β-地中海贫血基因携带者133例,检出率为3.00%.检查出双方均为地中海贫血基因携带者共13对,其中同意进行产前诊断的11例,诊断为中、重型地中海贫血胎儿5例.结论 开展孕妇地中海盆血的产前筛选与诊断,可尽早确诊中、重型地中海贫血胎儿,为家庭和社会减轻了负担与痛苦.%Objective To analyze the results of prenatal screen and diagnosis of thalassemia in 4438 pregnant women. Methods Quantitation of hemoglobin and thalassemia genetic analysis were used for screening thalassemia in 2219 couples. The couples carring thalassemia genes were suggested to take some related prenatal examinations. After permission, amniotic fluid or chorionic villi samples, and umbilical vein blood were collected from early and middle - late gestation respectively for the detection of thalassemia gene. Results Mild alpha - thalassemia gene carrier and mild beta - thalassemia gene carrier in one person of the couple were found in 221 cases ( 4.98% ) and 133 cases ( 3.00% ) respectively;thalassemia gene was found in both husband and wife in 13 couples. Of the 13 couples, 11 agreed to make prenatal diagnosis and 5 foetus of them were diagnosed as heavy thalassemia. Conclusion

  8. Modifying culture conditions in chemical library screening identifies alternative inhibitors of mycobacteria.

    Science.gov (United States)

    Miller, Christopher H; Nisa, Shahista; Dempsey, Sandi; Jack, Cameron; O'Toole, Ronan

    2009-12-01

    In this study, application of a dual absorbance/fluorescence assay to a chemical library screen identified several previously unknown inhibitors of mycobacteria. In addition, growth conditions had a significant effect on the activity profile of the library. Some inhibitors such as Se-methylselenocysteine were detected only when screening was performed under nutrient-limited culture conditions as opposed to nutrient-rich culture conditions. We propose that multiple culture condition library screening is required for complete inhibitory profiling and for maximal antimycobacterial compound detection.

  9. Older Korean American men's prostate cancer screening behavior: the prime role of culture.

    Science.gov (United States)

    Lee, Hee Yun; Jung, Yunkyung

    2013-12-01

    East and South Asian male immigrants show markedly low odds of prostate cancer screening as compared to U.S.-born men. However, knowledge about these immigrants' culture-based screening behavior and barriers to screening is extremely limited. This study investigates factors influencing receipt of prostate cancer screening among Korean American immigrant men, particularly investigating culture's impact on screening behaviors. Data were collected through a convenience and purposive sampling technique from 134 Korean American males aged 50 and older recruited in New York City. A structured questionnaire was used and cultural variables were measured by adopting items from Tang and colleagues' work. Approximately 60 % of the sample had received a prostate-specific antigen (PSA) test in their lifetime, and of these, about 66 % reported having done so in the previous 12 months. Logistic regression analysis revealed that a crisis-oriented intervention approach was associated with a substantially reduced likelihood of screening. A positive correlation was noted between the use of Eastern medicine and PSA test receipt. Further analysis revealed a significant interaction effect between use of Eastern medicine and age in predicting PSA test uptake. Culture-specific intervention strategies for increasing prostate cancer screening in this group are discussed, with particular attention to increasing pertinent health literacy. Health professionals should consider the cultural domain when working with Korean immigrant men in order to provide culturally competent care.

  10. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U;

    2011-01-01

    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  11. Non-invasive prenatal testing for aneuploidy and beyond

    DEFF Research Database (Denmark)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT ha...

  12. Screening for TB by sputum culture in high-risk groups in Copenhagen, Denmark

    DEFF Research Database (Denmark)

    Jensen, Sidse Graff; Wrona Olsen, Nete; Seersholm, Niels;

    2015-01-01

    INTRODUCTION: Evidence on screening high-risk groups for TB by mobile X-ray in low-incidence countries is building, but knowledge on other possible screening methods is limited. In this retrospective study we report results from a community based programme screening for TB by spot sputum culture....... METHODS: On seven occasions, from September 2012 through June 2014, we offered TB screening to all persons present at 11 locations where socially marginalised people gather in Copenhagen. Spot sputum samples from participants were examined by smear microscopy and culture. Genotype, nucleic acid......-positive and seven (19.4%) were smear-positive. Twelve out of 21 (57.1%) cases tested were nucleic acid amplification test positive. Twenty-eight (77.8%) had chest X-ray suggestive of TB. All patients with TB started treatment, 30 (83.3%) had a successful outcome. DISCUSSION: Screening for TB by spot sputum culture...

  13. The effectiveness of ultrasound screening in the prenatal diagnosis of fetal malformation%胎儿肢体畸形的产前超声诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕小利; 薛玉; 许建萍; 张歆; 吴新财; 陈宝定

    2015-01-01

    目的:探讨超声筛查诊断胎儿肢体畸形的价值。方法超声筛查8368名孕16~34周的孕妇,运用二维连续顺序追踪超声检测法(SCSA)结合三维超声表面及透明成像模式检查胎儿肢体。结果引产后胎儿肢体畸形22例,产前超声检出21例[9例双足内翻,1例一足外翻,2例四肢短小畸形,1例左小腿缺如,1例双上肢前臂缺如,3例肢体姿势异常,1例双侧桡骨缺失,3例多指(趾)]。其中19例合并其他畸形,1例漏诊及3例部分漏诊。结论二维超声连续顺序追踪检测法结合三维超声表面及透明成像法是产前检出胎儿肢体畸形的有效方法。%Objective To evaluate the effectiveness of ultrasound screening and diagnosis of fetal limb defor-mities. Methods Ultrasound screening of 8 368 cases of pregnancy 16 to 34 weeks pregnant , focus on detection of fetus′limbs by using systematic continuous sequence approach (SCSA) combined with three-dimensional ultrasound. Results After development of fetal limb deformity in 22 cases, prenatal ultrasound detected 21 cases, including 9 cases of varus feet,1 case of valgus foot , 2 cases of short limb deformity, 1 case with left leg absent,1 case of upper forearm absent, 1 cases of pairs of limb posture abnormalities, 3 cases of pairs of limb posture abnormalities, 1 case of Congenital radiu deficiency ,and 3 cases of multiple fingers (toes), with 19 cases complicate with other malformations,1 case of missed diagnosis and missed parts of 3 cases. Conclusion The method of systematic continuous sequence ap-proach (SCSA) in two-dimensional ultrasound combined with three-dimensional ultrasound screening are effective tools for use in prenatal identification ofetal limb deformities.

  14. A Review of Cultural Adaptations of Screening Tools for Autism Spectrum Disorders

    Science.gov (United States)

    Soto, Sandra; Linas, Keri; Jacobstein, Diane; Biel, Matthew; Migdal, Talia; Anthony, Bruno J.

    2015-01-01

    Screening children to determine risk for Autism Spectrum Disorders has become more common, although some question the advisability of such a strategy. The purpose of this systematic review is to identify autism screening tools that have been adapted for use in cultures different from that in which they were developed, evaluate the cultural…

  15. Colorectal Cancer Screening at the Nexus of HIV, Minority Statuses, and Cultural Safety

    Science.gov (United States)

    Ka'opua, Lana Sue I.; Diaz, Tressa P.; Park, Soon H.; Bowen, Talita; Patrick, Kevin; Tamang, Suresh; Braun, Kathryn L.

    2014-01-01

    Background: The incidence of non-AIDS-defining cancers has increased significantly among persons living with HIV (PLHIV). Screening education is recommended. Purpose: Social learning, minority stress, and cultural safety theories informed this pilot to assess the feasibility of a colorectal cancer screening intervention targeted to PLHIV, with…

  16. Colorectal Cancer Screening at the Nexus of HIV, Minority Statuses, and Cultural Safety

    Science.gov (United States)

    Ka'opua, Lana Sue I.; Diaz, Tressa P.; Park, Soon H.; Bowen, Talita; Patrick, Kevin; Tamang, Suresh; Braun, Kathryn L.

    2014-01-01

    Background: The incidence of non-AIDS-defining cancers has increased significantly among persons living with HIV (PLHIV). Screening education is recommended. Purpose: Social learning, minority stress, and cultural safety theories informed this pilot to assess the feasibility of a colorectal cancer screening intervention targeted to PLHIV, with…

  17. Application Value of Amniotic Cell Culture in the Prenatal Diagnosis%羊水细胞培养在产前诊断中的应用价值

    Institute of Scientific and Technical Information of China (English)

    张赫

    2016-01-01

    目的:探讨羊水细胞培养在产前诊断中的应用价值。方法整群选取2010年5月—2015年10月在医院进行产前诊断的216例高危孕妇,给予羊膜穿刺和羊水细胞培养后分析染色体核型。结果所有孕妇穿刺成功率为99.1%,经过羊水细胞培养后,211例为正常核型,占97.7%,5例为异常核型,占2.3%。结论对孕妇进行羊水细胞培养在产前诊断中意义重大,可以预防先天性缺陷患儿的发生,提高新生儿质量,值得应用。%Objective To discuss the application value of amniotic cell culture in the prenatal diagnosis. Methods 216 cas-es of high risk pregnant women with prenatal diagnosis treated in our hospital from May 2010 to October 2015 were select-ed, and the chromosome karyotypes were analyzed after giving amniocentesis and amniotic cell culture. Results The success rate of amniocentesis of all pregnant women was 99.1%, 211 cases were normal karyotypes, accounting for 97.7%, 5 cases were abnormal karyotypes, accounting for 2.3%. Conclusion Amniotic cell culture in the prenatal diagnosis is of great sig-nificance, which can prevent the occurrence of children with congenital defects and improve the quality of newborns, and it is worth application.

  18. Evaluation of urine culture screening by light-scatter photometry

    Energy Technology Data Exchange (ETDEWEB)

    Hale, D.C.; Thrupp, L.D.; Matsen, J.M.

    1981-08-01

    Urine screening for bacteriuria by light-scatter photometry (Autobac) was evaluated for accuracy and compared with a colony count by the calibrated loop method. Incubation time, inoculum size, precision, and interference of particulate matter were evaluated in an effort to standardize the screening procedure. Results showed that urines could be accurately screened for Enterobacteriaceae by inoculating a single Autobac cuvette chamber with 0.1 or 0.2 ml of urine and determining the voltage change after four hours. A change of greater than or equal to 0.2 units indicates significant bacteriuria. Decreased accuracy was noted for urines having greater than 10(5) cfu/ml of Pseudomonas species or gram-positive cocci, possibly because these organisms grow more slowly.

  19. Analysis of 1 764 pregnant women for prenatal screening%1764例孕妇孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    范崇梅; 骆建华; 樊卫

    2013-01-01

    目的 通过检测孕妇血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(β-HCG)水平进行孕中期胎儿无创伤性产前筛查.方法 采用化学发光法对1 764例孕中期孕妇进行血清AFP、fβ-HCG定量检测,计算风险值.结果 1 764例孕妇唐氏综合征(DS)、爱德华氏综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.51%(62/1 764)、0.11%(2/1 764)、2.49%(44/1 764).在不同年龄的高风险分组中,大于或等于35岁组与其他组DS筛查阳性率差异有统计学意义(P<0.05),各年龄组NTD筛查阳性率无统计学差异(P>0.05).结论 产前筛查是一种无创伤性检测手段,对避免DS、ES、NTD患儿出生有重要意义.%Objective To perform non-invasive prenatal screening at the second trimester by detectingorfetoprotein(AFP) and free β-human chorionic gonadotrophin(β-HCG).Methods AFP and fβ-HCG of 1 764 pregnant women at the second trimester were detected by chemiluminescence and the risk value was calculated.Results Positive rates of Down's syndrome(DS),Edward's syn-drome(ES) and neural tube defects(NTD) were 3.51% (62/1 764), 0.11% (2/1 764) and 2.49% (44/1 764).In different age groups,the positive rate of DS in the group of at least 35 years old was higher than other groups(P0.05).Conclusion Prenatal screening could be a non-invasive detection methods and might be helpful for reducing the birth rate of DS,ES and NTD cases.

  20. Prenatal ultrasonic screening of fetuses with trisomy 18%18-三体综合征胎儿的产前超声筛查

    Institute of Scientific and Technical Information of China (English)

    栗河舟; 王铭; 许雅娟; 吴玥丽; 雷冬梅; 刘云; 李洁; 林杉; 孟繁凌

    2012-01-01

    目的:评价18三体综合征胎儿的超声表现特征和产前超声筛查的价值.方法:对羊膜腔穿刺或脐血管穿刺确诊为18-三体综合征的27例胎儿超声声像图进行分析.结果:27例18-三体胎儿均表现为胎儿结构异常,每例胎儿可检出四项及四项以上超声异常,最常见的超声改变是心脏畸形,共25例;其它常见的异常包括重叠指17例,单脐动脉11例,小下颌10例,上消化道梗阻9例,脉络丛囊肿及桡骨发育不良或缺如各8例,草莓头7例,小脑发育不良、小脑延髓池扩大、脐膨出及腕关节异常各6例,宫内生长受限11例,羊水过多19例.结论:超声检查是产前筛查18-三体综合征胎儿的有效手段.%Objective: To evaluate the characteristics of ultrasonic manifestations and value of prenatal ultrasonic screening for fetuses with trisomy 18. Methods: The ultrasonic images of 27 fetuses diagnosed as trisomy 18 definitely by amniocentesis and needle puncture of umbilical blood vessels were analyzed. Results; All the fetuses with trisomy 18 were found with fetal structural abnormality, each fetus was found with four kinds or more than four kinds of ultrasonic abnormalities, the most common ultrasonic abnormalities were cardiac abnormalities, which were found in 25 fetuses; the other common abnormalities included abnormal fingers overlap (17 fetuses) , single umbilical artery (11 fetuses) , micrognathia (10 fetuses) , upper gastrointestinal obstruction (9 fetuses) , choroid plexus cyst ( 8 fetuses) , dysplasia or absence of radius (8 fetuses) , strawberry head (7 fetuses) , cerebellar hypopksia (6 fetuses) , dilatation of cisterna magna (6 fetuses) , omphalocele (6 fetuses) , wrist abnormalities (6 fetuses) , intrauterine growth restriction (11 fetuses) , and polyhydramnios ( 19 fetuses) . Conclusion; Ultrasonographyis an effective method for prenatal screening of fetuses with trisomy 18.

  1. High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

    Directory of Open Access Journals (Sweden)

    Tianjiao Chu

    Full Text Available Our goal was to test the hypothesis that inter-individual genomic copy number variation in control samples is a confounding factor in the non-invasive prenatal detection of fetal microdeletions via the sequence-based analysis of maternal plasma DNA. The database of genomic variants (DGV was used to determine the "Genomic Variants Frequency" (GVF for each 50kb region in the human genome. Whole genome sequencing of fifteen karyotypically normal maternal plasma and six CVS DNA controls samples was performed. The coefficient of variation of relative read counts (cv.RTC for these samples was determined for each 50kb region. Maternal plasma from two pregnancies affected with a chromosome 5p microdeletion was also sequenced, and analyzed using the GCREM algorithm. We found strong correlation between high variance in read counts and GVF amongst controls. Consequently we were unable to confirm the presence of the microdeletion via sequencing of maternal plasma samples obtained from two sequential affected pregnancies. Caution should be exercised when performing NIPT for microdeletions. It is vital to develop our understanding of the factors that impact the sensitivity and specificity of these approaches. In particular, benign copy number variation amongst controls is a major confounder, and their effects should be corrected bioinformatically.

  2. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  3. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  4. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  5. Potentiality of benthic dinoflagellate cultures and screening of their ...

    African Journals Online (AJOL)

    aghomotsegin

    2014-02-05

    Feb 5, 2014 ... typical photosynthetic culture of dinoflagellate (Rodríguez ... identified by morphological feature using light microscope (Zeiss. Axioplan 2, Germany) .... PBS) was then added to each well to a total reaction volume of 250. µL.

  6. 桂林地区5057例唐氏综合征产前筛查临床分析%Clinical analysis from 5057 Down's syndrome prenatal screening.

    Institute of Scientific and Technical Information of China (English)

    蒋群芳

    2013-01-01

    目的 探讨妊娠中期唐氏综合征产前筛查对胎儿染色体异常核型检出的实用价值.方法 对5057例孕中期孕妇血清进行甲胎蛋白(AFP)、β绒毛膜促性腺激素(β-HCG)及游离雌三醇(uE3)的测定,利用分析软件进行风险评估,高风险孕妇进行羊膜穿刺羊水细胞染色体核型分析.结果 5057例孕妇中唐氏综合征高风险孕妇263例,筛查阳性率为5.20%,其中247例孕妇进行了羊水细胞培养,异常检出率为6.48%.检出21-三体6例,纯合型5例和嵌合型1例;染色体结构异常4例,46,XX,t(2;17)、45,X,der(14;21)各1例,46,XY,inv (9)2例;非整数倍核型2例,克氏综合症(KS) 47,XXY和超Y综合征47,XXY各1例.染色体多态3例,46,XY,1qh+、46,XX,22p+、46,XY,Yp+各1例.结论 应用孕妇血清三联生化指标进行产前筛查,是预测21-三体胎儿和其他异常核型胎儿的有效指标,结合羊水细胞培养指导孕妇妊娠,对减少缺陷儿出生具有重要临床价值.%Objective:To study the gestation Down's syndrome prenatal screening for fetal anomaly of chromosome karyotype detection of practical value.Method:The value of AFP,3-HCG,uE3 serum in serum of 5057 cases the use of pregnant women were detected by analysis software for risk assessment,high-risk pregnant women in amniotic membrane puncture amniotic fluid cells karyotype analysis.Result:5057 cases of pregnant women at high risk of Down's Syndrome in 263 cases of pregnant women,screening positive rate was 5.20%,among which 247 cases of pregnant women in the amniotic fluid cell culture,anomaly detection rate is 6.48%.Detection and three body 6 cases,homozygous type 5 cases and mosaic type 1 cases.Chromosome structure abnormal 4 cases,46,XX,t (2; 17),45,X,der (14; 21) each of the cases,46,XY,inv (9) 2 cases.Non integer times karyotype in 2 cases,KS 47,XXY and super Y syndrome 47,XXY each 1 case.Chromosome polymorphism in 3,46,XY,1 qh +,46,XX,22p +,46,XY,Yp + 1 case

  7. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    Science.gov (United States)

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  8. Psychosocial and Cultural Barriers to Prostate Cancer Screening: Racial Comparisons

    Science.gov (United States)

    2007-03-01

    group to run smoothly, we ask that we all follow some ground rules [Show on flip chart ]: To be polite and respect each others’ opinions Not to...a digital rectal exam (DRE). [Show this information on flip chart . Moderator will briefly describe what a PSA test and DRE consist of, and what...Show this information on flip chart .] 9/25/06 1 PROSTATE CANCER SCREENING BARRIERS STUDY (HULL) FOCUS GROUP DISCUSSION GUIDE MODERATOR: Main

  9. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    Science.gov (United States)

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A. S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A.; Jinnett, K. N.; Demko, Z.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk result. Results Ninety‐five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (PPV) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high‐risk cases: 57.1% (48/84) had invasive testing and 42.9% (36/84) did not. Ultrasound anomalies were present in 81.8% of true‐positive and 18.0% of false‐positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing. Conclusions Clinical experience with this SNP‐based non‐invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high‐risk pregnancies. © 2015 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. PMID:26396068

  10. The role of culture in health literacy and chronic disease screening and management.

    Science.gov (United States)

    Shaw, Susan J; Huebner, Cristina; Armin, Julie; Orzech, Kathryn; Orzech, Katherine; Vivian, James

    2009-12-01

    Cultural and language differences and socioeconomic status interact with and contribute to low health literacy, defined as the inability to understand or act on medical/therapeutic instructions. Health literacy is increasingly recognized as an important factor in patient compliance, cancer screening utilization, and chronic disease outcomes. Commendable efforts have been initiated by the American Medical Association and other organizations to address low health literacy among patients. Less work has been done, however, to place health literacy in the broader context of socioeconomic and cultural differences among patients and providers that hinder communication and compliance. This review examines cultural influences on health literacy, cancer screening and chronic disease outcomes. We argue that cultural beliefs around health and illness contribute to an individual's ability to understand and act on a health care provider's instructions. This paper proposes key aspects of the intersection between health literacy and culturally varying beliefs about health which merit further exploration.

  11. The Cross-Cultural Dementia Screening (CCD): A new neuropsychological screening instrument for dementia in elderly immigrants.

    Science.gov (United States)

    Goudsmit, Miriam; Uysal-Bozkir, Özgül; Parlevliet, Juliette L; van Campen, Jos P C M; de Rooij, Sophia E; Schmand, Ben

    2017-03-01

    Currently, approximately 3.9% of the European population are non-EU citizens, and a large part of these people are from "non-Western" societies, such as Turkey and Morocco. For various reasons, the incidence of dementia in this group is expected to increase. However, cognitive testing is challenging due to language barriers and low education and/or illiteracy. The newly developed Cross-Cultural Dementia Screening (CCD) can be administered without an interpreter. It contains three subtests that assess memory, mental speed, and executive function. We hypothesized the CCD to be a culture-fair test that could discriminate between demented patients and cognitively healthy controls. To test this hypothesis, 54 patients who had probable dementia were recruited via memory clinics. Controls (N = 1625) were recruited via their general practitioners. All patients and controls were aged 55 years and older and of six different self-defined ethnicities (Dutch, Turkish, Moroccan-Arabic, Moroccan-Berber, Surinamese-Creole, and Surinamese-Hindustani). Exclusion criteria included current or previous conditions that affect cognitive functioning. There were performance differences between the ethnic groups, but these disappeared after correcting for age and education differences between the groups, which supports our central hypothesis that the CCD is a culture-fair test. Receiver-operating characteristic (ROC) and logistic regression analyses showed that the CCD has high predictive validity for dementia (sensitivity: 85%; specificity: 89%). The CCD is a sensitive and culture-fair neuropsychological instrument for dementia screening in low-educated immigrant populations.

  12. 中国女性对于FMR1突变产前筛查的态度调查%Acceptance of prenatal screening for FMR1 mutation in Chinese female population

    Institute of Scientific and Technical Information of China (English)

    张岚; 章远志

    2012-01-01

    Objective Study the attitude of Chinese female population on prenatal screening of FXS in order to investigate the feasibility of offering prenatal screening.Methods Two hundred and eighty four women with no family history of mental retardation or FXS were recruited in the study.They were grouped into:females married with child (ren) (67/284),females married without child (54/284),unmarried single women (163/284).Then the participants were tested whether they retained the basic genetic knowledge of fragile X by using the adapted questionnaire.Results The proportions of the women who preferred to have prenatal screening for FXS in each group were 77.6%,66.7% and 74.9%.Further more,95.5% of the women in the first female group would like to terminate the pregnancy if a positive result of FXS was reported,so did 92.6% of the women in the second female group and 90.2% of women in the third female group.Conclusion There is a big acceptance of prenatal screening for FMR1 mutation in Chinese female population.Most people would like to take prenatal screening of fragile X syndrome.%目的 调查中国女性对于脆性X综合征产前筛查的态度.方法 随机调查284位没有智力发育障碍及脆性X综合征家族史的女性,分为已婚已育(67/284)、已婚未育(54/284)及未婚未育(163/284)三组.结果 各组愿意接受产前筛查的比率分别为77.6%、66.7%及74.9%.而各组选择在得知产前筛查结果阳性时愿意终止妊娠的比率分别为95.5%、92.6%及90.2%.结论 在中国女性群体中对FMR1基因突变进行产前筛查有较高的接受度.大多数人选择接受针对脆X综合征的产前筛查.

  13. Prenatal alcohol exposure alters expression of neurogenesis-related genes in an ex vivo cell culture model

    OpenAIRE

    Tyler, Christina R; Allan, Andrea M.

    2014-01-01

    Prenatal alcohol exposure can lead to long-lasting changes in functional and genetic programs of the brain, which may underlie behavioral alterations seen in Fetal Alcohol Spectrum Disorder (FASD). Aberrant fetal programming during gestational alcohol exposure is a possible mechanism by which alcohol imparts teratogenic effects on the brain; however, current methods used to investigate the effects of alcohol on development often rely on either direct application of alcohol in vitro or acute h...

  14. Application of early prenatal systemic ultrasound screening in diagnosis of fetal deformity%早孕期超声筛查在胎儿结构畸形诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    霍晓恺; 刘泰石; 解耀锃

    2016-01-01

    Objective To explore the clinical value of early prenatal systemic ultrasound screening in diagnosis of fetal deformity.Methods Sixty-four pregnant women who accepted prenatal ultrasound examination during 11 to 13 +6 gestational weeks in the Second People ’ s Hospital of Liaocheng City from May 2013 to May 2015 were selected to do the early prenatal ultrasound screening.Medium-term prenatal ultrasound was done among the cases of 22 -24 +6 weeks of pregnancy (continuous scan method), and the final results were tracked. Results The fetus deformity detection rates of early prenatal ultrasound screening and medium-term prenatal ultrasound in both groups were not obviously different (χ2 =1.03,P>1.03).Compared to the detection rates of single early prenatal ultrasound screening or single medium-term prenatal ultrasound, the deformity rate in the joint early prenatal ultrasound and medium-term prenatal ultrasound showed significant difference (χ2 =4.53,P<0.05; χ2 =5.39, P<0.05).There were 36 types of fetal structural deformity detected in early prenatal ultrasound.The top three were as follows: cervical cystic carcinoma and NT thickening ( 33.33%) , facial abnormality (25.00%), and anterior abdominal wall abnormality (11.11%).There were 42 types of fetal structural deformity detected in medium-term prenatal ultrasound.The top three were as follows: cardiovascular abnormalities (30.95%), facial abnormalities (21.43%), and central nervous system abnormalities (11.11%).In the results of systemic ultrasound screening in early and medium-term pregnancy, the distribution rates of all kinds of structural deformity were significantly different (χ2 value ranged 4.55 to 6.32, all P<0.05).Conclusion The detection rate of fetal structural deformity is higher in early prenatal systemic ultrasound screening which, however, cannot completely replace the medium-term ultrasound.The joint examination of early and medium-term prenatal ultrasound is suggested to improve the detection

  15. Control Prenatal

    National Research Council Canada - National Science Library

    P. Susana Aguilera, DRA; M.D. Peter Soothill, MR

    2014-01-01

    Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así...

  16. The Dianosis Value of Prenatal Ultrasound Screening Combined with Prenatal Maternal Serum Markers Detecting in Trimester Pregnancy for the 21 - trisomy Syndrome%中孕B超产前检查联合母血清标记物对21-三体综合征的临床诊断价值

    Institute of Scientific and Technical Information of China (English)

    李洁; 陈大雁; 胡桂朗; 荆志敏

    2011-01-01

    Objective: To explore the feasibility, effectiveness and necessity of the prenatal ultrasound screenings,combined with the content inspection of the mothers' prenatal maternal serum markers:in trimester pregnancy Alpha-fetoprotein ( AFP), free estriol ( uE3 ), total serum β human chorionic gonadotropin ( hCG) in the 21 -trisomy syndrome. Method: We summarized the detection rate of the 21 -trisomy syndrome by prenatal ultrasound screening and the prenatal maternal serum markers. Result: The detection rate in terms of the positive signs of the prenatal ultrasound screening in trimester pregnancy combined with the prenatal maternal serum markers in the 21-trisomy syndrome diagnosis was 80%-90%. Conclusion:The prenatal ultrasound screening in trimester pregnancy combined with prenatal maternal serum markers in the 21trisomy syndrome diagnosis is a non-invasive checking method, not only can reduce the abnormal or deformed children are born, can also reduce the invasive inspection; It has the davantage of clinically simple,application and testing of a wide range of safe and effective, cost-effective, with higher screening detection rate, and reduce the intrusion caused by the check normal fetal abortion rate.%目的:探讨中孕B超产前检查出现阳性征,及联合母体血清标记物指标:甲胎蛋白(AFP)、游离雌三醇(uE3)、血清总β绒毛膜促性腺激素(hCG)的含量检查对21-三体综合征的产前筛查和诊断的可行性、有效性和必要性.方法:回顾了中孕B超产前检查联合母血清标记物对21-三体综合征检出率.结果:中孕B超产前检查的阳性征,联合母体血清标记物检查指标对21三体综合征检出率高达80%-90%.结论:中孕超声检查,及联合母血清标记物进行唐氏综合征胎儿筛查是一种非侵入性的检查方法,不但可以减少异常或畸型儿童出生,提高人口素质,也可以减少侵入性的检查;且具有临床操作简便、应用范围和检验范围面广

  17. Genetic synthetic lethality screen at the single gene level in cultured human cells

    OpenAIRE

    Simons, Arnold H.; Dafni, Naomi; Dotan, Iris; Oron, Yoram; Canaani, Dan

    2001-01-01

    Recently, we demonstrated the feasibility of a chemical synthetic lethality screen in cultured human cells. We now demonstrate the principles for a genetic synthetic lethality screen. The technology employs both an immortalized human cell line deficient in the gene of interest, which is complemented by an episomal survival plasmid expressing the wild-type cDNA for the gene of interest, and the use of a novel GFP-based double-label fluorescence system. Dominant negative genetic suppressor elem...

  18. Metabolite profiling of microfluidic cell culture conditions for droplet based screening

    DEFF Research Database (Denmark)

    2015-01-01

    We investigate the impact of droplet culture conditions on cell metabolic state by determining key metabolite concentrations in S. cerevisiae cultures in different microfluidic droplet culture formats. Control of culture conditions is critical for single cell/clone screening in droplets....... Metabolite profiling provides a more nuanced estimate of cell state compared to proliferation studies alone. We show that the choice of droplet incubation format impacts cell proliferation and metabolite production. The standard syringe incubation of droplets exhibited metabolite profiles similar to oxygen...... limited cultures, whereas the metabolite profiles of cells cultured in the alternative wide tube droplet incubation format resemble those from aerobic culture. Furthermore, we demonstrate retained droplet stability and size in the new better oxygenated droplet incubation format....

  19. A three-dimensional collagen scaffold cell culture system for screening anti-glioma therapeutics

    Science.gov (United States)

    Lv, Donglai; Yu, Shi-cang; Ping, Yi-fang; Wu, Haibo; Zhao, Xilong; Zhang, Huarong; Cui, Youhong; Chen, Bing; Zhang, Xia; Dai, Jianwu

    2016-01-01

    Three-dimensional (3D) culture, which can simulate in vivo microenvironments, has been increasingly used to study tumor cell biology. Since most preclinical anti-glioma drug tests still rely on conventional 2D cell culture, we established a collagen scaffold for 3D glioma cell culture. Glioma cells cultured on these 3D scaffolds showed greater degree of dedifferentiation and quiescence than cells in 2D culture. 3D-cultured cells also exhibited enhanced resistance to chemotherapeutic alkylating agents, with a much higher proportion of glioma stem cells and upregulation of O6-methylguanine DNA methyltransferase (MGMT). Importantly, tumor cells in 3D culture showed chemotherapy resistance patterns similar to those observed in glioma patients. Our results suggest that 3D collagen scaffolds are promising in vitro research platforms for screening new anti-glioma therapeutics. PMID:27486877

  20. The ligase chain reaction as a primary screening tool for the detection of culture positive tuberculosis.

    LENUS (Irish Health Repository)

    O'Connor, T M

    2012-02-03

    BACKGROUND: The ligase chain reaction Mycobacterium tuberculosis assay uses ligase chain reaction technology to detect tuberculous DNA sequences in clinical specimens. A study was undertaken to determine its sensitivity and specificity as a primary screening tool for the detection of culture positive tuberculosis. METHODS: The study was conducted on 2420 clinical specimens (sputum, bronchoalveolar lavage fluid, pleural fluid, urine) submitted for primary screening for Mycobacterium tuberculosis to a regional medical microbiology laboratory. Specimens were tested in parallel with smear, ligase chain reaction, and culture. RESULTS: Thirty nine patients had specimens testing positive by the ligase chain reaction assay. Thirty two patients had newly diagnosed tuberculosis, one had a tuberculosis relapse, three had tuberculosis (on antituberculous therapy when tested), and three had healed tuberculosis. In the newly diagnosed group specimens were smear positive in 21 cases (66%), ligase chain reaction positive in 30 cases (94%), and culture positive in 32 cases (100%). Using a positive culture to diagnose active tuberculosis, the ligase chain reaction assay had a sensitivity of 93.9%, a specificity of 99.8%, a positive predictive value of 83.8%, and a negative predictive value of 99.9%. CONCLUSIONS: This study is the largest clinical trial to date to report the efficacy of the ligase chain reaction as a primary screening tool to detect Mycobacterium tuberculosis infection. The authors conclude that ligase chain reaction is a useful primary screening test for tuberculosis, offering speed and discrimination in the early stages of diagnosis and complementing traditional smear and culture techniques.

  1. Emulsion culture: a miniaturized library screening system based on micro-droplets in an emulsified medium.

    Science.gov (United States)

    Kojima, Takaaki; Nagao, Nobuhito; Ando, Daisuke; Ojima, Teruyo; Kawarasaki, Yasuaki; Kobayashi, Isao; Nakajima, Mitsutoshi; Nakano, Hideo

    2011-09-01

    A typical library screen in directed evolution primarily requires physical separation of the clones on agar plates followed by detection of clones with improved properties; using this method only limited numbers of clones relative to the number of potential variations can be assessed. In particular, screening for a secretory enzyme is difficult to perform at high clone density, because of diffusion of the signal or unfavorable utilization of the reaction product by neighboring clones. In this study, we have developed a novel method of enrichment culture: "Emulsion Culture", i.e., segregated replication of clones in an emulsified culture medium. Clones expressing enzyme-variants are separately distributed to small (up to 50 μm in diameter), segregated compartments composed of a droplet of medium to form several tens of millions of microcolonies in a milliliter of medium, which allows a miniaturized, in-bulk screening of clones. We applied this culture method to yeast clones expressing secretory beta-galactosidase to analyze the enrichment factor achieved. A high-density screen for a signal peptide sequence that maximizes extracellular production of the enzyme was also performed to demonstrate the practicability of this culture method. In addition, micro-channel emulsification was tested as a method of forming uniformly-sized compartments in the emulsion.

  2. Video recording to improve the quality of prenatal genetic counselling.

    NARCIS (Netherlands)

    Spelten, E.; Gitsels, J.; Pereboom, M.; Martin, L.; Hutton, E.; Dulmen, S. van

    2012-01-01

    OBJECTIVES: Counselling on prenatal testing has become an increasing part of obstetric care in the Netherlands. The majority of Dutch women (>70%) are counselled by midwives on prenatal testing (Wiegers and Hingstman, 2008). Prenatal screening on congenital abnormalities is not routinely done and pr

  3. 台州地区202677例孕中期产前筛查及随访结果分析%Prenatal screening in Taizhou area

    Institute of Scientific and Technical Information of China (English)

    干灵红; 许惠惠; 章鸯; 伍霞芳; 刘佳媚; 石卫武

    2013-01-01

    目的:探讨孕中期二联法产前筛查对胎儿出生缺陷监测的作用,并了解浙江省台州地区孕中期孕妇唐氏综合征(DS)、18-三体综合征、神经管缺陷(NTD)及其他缺陷发生率.方法:采用时间分辨免疫荧光分析法检测202677例孕中期孕妇血清标志物甲胎蛋白(AFP)和人绒毛膜促性腺激素(游离β-hCG),通过Multicalc和Risks2T风险评估软件进行风险评估.采用产前羊膜腔染色体检查以及诊断性B超进行确诊,并追踪妊娠结局.结果:202677例孕妇中,筛查出高风险孕妇7746例,阳性率3.82%.高风险孕妇中确诊DS66例、18-三体23例、NTD62例和其他染色体异常89例.低风险孕妇中随访到DS漏检18例,18-三体漏检2例和其他染色体异常5例和其他出生缺陷54例.两组比较差异有统计学意义(P<0.01).结论:产前筛查和诊断是降低出生缺陷率的有效措施,加强随访能够更好的指导优生工作.%Objective:To evaluate the effectiveness of duplex process prenatal screening in detecting the fetus's chro-mosomal abnormalities and neural tube defect at midterm pregnancy.Methods:A total of 202677 mid-pregnant women were tested for the concentrations of serum AFP and free-β HCG with time-resolved immunofluorescence technique.Final diagnosis was confirmed by 3D-ultrasound and chromosome examination of amniotic fluid cell or allantoic venous blood cells.The diagnostic results were compared with the follow-up outcome of the pregnancies.Results:Seven thousand,seven hundred and forty-six mid-pregnant women were classified as a high risk group,from which 66 babies were born with disease of DS,23 with Edwards syndrome,sixty-two cases with neural tube defect (NTD) and eighty-nine cases with other chromosomal abnormalities,respectively.Only 18 babies with disease of DS,two cases with Edwards syndrome,five cases with other chromosomal abnormalities and 54 cases with other defects were found from low risk pregnant women.Conclusion:Prenatal

  4. An integrated microfludic device for culturing and screening of Giardia lamblia.

    Science.gov (United States)

    Zheng, Guo-Xia; Zhang, Xue-Mei; Yang, Yu-Suo; Zeng, Shu-Rui; Wei, Jun-Feng; Wang, Yun-Hua; Li, Ya-Jie

    2014-02-01

    In vitro culturing of trophozoites was important for research of Giardia lamblia (G. lamblia), especially in discovery of anti-Giardia agents. The current culture methods mainly suffer from lab-intension or the obstacle in standardizing the gas condition. Thus, it could benefit from a more streamlined and integrated approach. Microfluidics offers a way to accomplish this goal. Here we presented an integrated microfluidic device for culturing and screening of G. lamblia. The device consisted of a polydimethylsiloxane (PDMS) microchip with an aerobic culture system. In the microchip, the functionality of integrated concentration gradient generator (CGG) with micro-scale cell culture enables dose-response experiment to be performed in a simple and reagent-saving way. The diffusion-based culture chambers allowed growing G. lamblia at the in vivo like environment. It notable that the highly air permeable material of parallel chambers maintain uniform anaerobic environment in different chambers easily. Using this device, G. lamblia were successfully cultured and stressed on-chip. In all cases, a dose-related inhibitory response was detected. The application of this device for these purposes represents the first step in developing a completely integrated microfluidic platform for high-throughput screening and might be expanded to other assays based on in vitro culture of G. lamblia with further tests.

  5. Adapting the SRQ for Ethiopian Populations : A Culturally-Sensitive Psychiatric Screening Instrument

    NARCIS (Netherlands)

    Youngmann, Rafael; Zilber, Nelly; Workneh, Fikre; Giel, Robert

    2008-01-01

    The objective of the study was to develop a culturally sensitive psychiatric screening instrument valid for Ethiopians in Ethiopia and Israel. The study sample was composed of 356 Amharic-speaking Ethiopians from Ethiopia and Israel, aged 18-55, divided into three groups: i) general population; ii)

  6. Intention, Subjective Norms, and Cancer Screening in the Context of Relational Culture

    Science.gov (United States)

    Pasick, Rena J.; Barker, Judith C.; Otero-Sabogal, Regina; Burke, Nancy J.; Joseph, Galen; Guerra, Claudia

    2009-01-01

    Research targeting disparities in breast cancer detection has mainly utilized theories that do not account for social context and culture. Most mammography promotion studies have used a conceptual framework centered in the cognitive constructs of intention (commonly regarded as the most important determinant of screening behavior), self-efficacy,…

  7. Screening for Recombinant Avian Leukosis Viruses in Cell Cultures Inoculated with Various Subgroups of Virus

    Science.gov (United States)

    Chicken embryo fibroblasts (CEFs) prepared from ADOL SPF embryos were co-infected with different concentration ratios of subgroups A, J and E avian leukosis virus (ALV). Inoculated cultures were screened for recombination among the ALV strains. Potential recombinant viruses were purified by limiting...

  8. Preoperative screening cultures in the identification of staphylococci causing wound and valvular infections in cardiac surgery

    NARCIS (Netherlands)

    E. J. Ridgway; A.P.R. Wilson; M. C. Kelsey

    1990-01-01

    textabstractCultures of nasal or presternal swabs form part of the routine preoperative screening of patients on the cardiac surgical ward. During a trial of antibiotic prophylaxis in 314 patients, preoperative isolates of Staphylococcus aureus and coagulase-negative staphylococci were compared with

  9. A Culturally Relevant and Responsive Approach to Screening for Perinatal Depression

    Science.gov (United States)

    Price, Sarah Kye; Handrick, Sandii Leland

    2009-01-01

    Objectives: This study presents the design, implementation, and evaluation of a culturally relevant and responsive approach to screening for perinatal depression in low-income, predominantly African American women. Method: The study details the development of the community-informed instrument and subsequent evaluation of its psychometric…

  10. Motivating underserved Vietnamese Americans to obtain colorectal cancer screening: evaluation of a culturally tailored DVD intervention.

    Science.gov (United States)

    Lee, Hee Yun; Tran, Marie; Jin, Seok Won; Bliss, Robin; Yeazel, Mark

    2014-01-01

    Colorectal cancer (CRC) is a leading cause of cancer death among Vietnamese Americans, yet screening remains underutilized. We investigated the effectiveness of a culturally tailored DVD intervention in promoting CRC screening among unscreened Vietnamese Americans age 50 and over. Using a community-based participatory research approach, we conducted a trial comparing twenty-eight subjects who received a mailed DVD in Vietnamese, with twenty-eight subjects who received a mailed brochure in Vietnamese. Subjects completed telephone surveys at baseline, One-month, and one-year. The primary outcome was receipt of screening. Secondary measures were participants' knowledge, attitudes, and beliefs about CRC screening. Two focus groups explored the intervention's acceptability and effectiveness. At one year, CRC screening rates of 57.1% and 42.9% were observed in experimental and control group respectively (p=0.42), Subjects in both groups showed increased knowledge about CRC after one month. Focus group findings revealed that the DVD was an effective method of communicating information and would help promote screening. The findings suggest that culturally tailored, linguistically appropriate content is more important than the type of media used. This relatively low intensity, low cost intervention utilizing a DVD can be another useful method for outreach to the often hard-to-reach unscreened population.

  11. Cultural Factors Associated with Breast and Cervical Cancer Screening in Korean American Women in the US: An Integrative Literature Review

    Directory of Open Access Journals (Sweden)

    Shin-Young Lee, PhD

    2015-06-01

    Conclusions: Theories focusing on interpersonal relationships and standardized, reliable, and valid instruments to measure cultural concepts are needed to breast and cervical cancer screening research in KA women. Traditional cultural factors associated with cancer screening should be considered for practical implications and future research with KA women.

  12. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  13. Automated screening of blood cultures with the Malthus microbiological growth analyser.

    Science.gov (United States)

    Brown, D F; Warner, M; Taylor, C E; Warren, R E

    1988-06-01

    A total of 3347 blood cultures from patients in all hospital wards were examined on a Malthus microbiological growth analyser and by a conventional system. There was no significant difference in the total numbers of positive cultures of clinical importance between the two systems (p greater than 0.05). Staphylococcus aureus, however, was isolated more often by the conventional method (p less than 0.05). Failure of the automatic detection routine limited the potential of the Malthus system for earlier detection of positive cultures. Daily visual examination of Malthus curves and subculture of bottles not promptly attached to the apparatus were necessary to avoid missing some positive cultures. False positive rates were 13% for the Malthus system and 2% for the conventional system. The contamination rate was considerably lower in the Malthus system (p less than 0.001). Further development would be necessary for the apparatus to be acceptable for routine screening of blood cultures.

  14. Screening of static culture and comparison of batch and continuous culture for the textile dye biological decolorization by Phanerochaete chrysosporium

    Directory of Open Access Journals (Sweden)

    J. Urra

    2006-09-01

    Full Text Available The production of manganese dependent peroxidase (MnP by Phanerochaete chrysosporium and the level of decolorization of 13 dyes were evaluated using static and agitated batch cultures and continuous cultures. A screening carried out under static conditions showed that the oxidative system has a certain affinity for azoic structures. For concentrations of 100 mg l-1 of Acid Black 1, Reactive Black 5, Reactive Orange 16 and Acid Red 27, decolorization percentages higher than 90% were obtained. In batch cultures with Acid Black 1 and Reactive Black 5 a significant increment in primary post-metabolism biomass was observed. For these last two dyes, it was possible to explore the response of the continuous system during 32 to 47 days, with concentrations between 25 to 400 mg l-1, obtaining decolorization percentages greater than 70% for 400 mg l-1.

  15. 血清学结合超声检查在非整倍体产前筛查中的应用%Application of serologic examination combined with ultrasonography in prenatal screening of aneuploidy

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾; 刘伟; 王瑞; 杨柳

    2011-01-01

    Objective: To explore the application values of serologic examination combined with ultrasonography in prenatal screening of fetal aneuploidy. Methods: Maternal serologic triple examination ( AFP, Free β - hCG and uE3 ) during the second trimester of pregnancy combined with fetal systematical ultrasonography was used for prenatal screening of fetal chromosomal aneuploidy among 1 831 pregnant women of 16 ~ 25 gestational weeks, the pregnant women with high risk of prenatal screening received chromosomal karyotype analysis of amniotic cells. Results: Among 1 831 pregnant women, 107 high risk cases were screened out, including 98 high risk cases of serologic screening, 9 cases with abnormal fetuses detected by ultrasonography, 2 cases diagnosed as Down's syndrome and 2 cases diagnosed as trisomy 18 definitely by chromosomal analysis of amniotic cells. Conclusion: The prenatal screening programme of serologic triple examination during the second trimester of pregnancy combined with fetal systematical ultrasonography can expand the coverage extent of screening objects, reduce misdiagnosis and missed diagnosis, increase the detection rate of fetal chromosomal aneuploidy effectively, which is a simple, minimally invasive and effective prenatal screening protocol.%目的:探讨血清学结合超声在胎儿非整倍体产前筛查中的应用价值.方法:采用孕中期孕母血清学三联(AFP、Freeβ-hCG、uE3)检测结介胎儿系统超声检查,对1 831例孕16~25周孕妇进行胎儿非整倍体染色体病产前筛查,对筛查高风险孕妇,进行羊水细胞染色体核型分析.结果:1 831例孕妇中筛查出高危孕妇107例,其中血清学筛查高危孕妇98例,超声检查胎儿异常9例,经羊水细胞染色体分析产前诊断确诊唐氏综合征2例、18-三体综合征2例.结论:孕中期血清三联筛查结合胎儿系统超声检查的产前筛查方案,可扩大筛查目标的涵盖范围,减少漏诊及误诊;有效提高胎儿非整

  16. An Analysis on the Relationship Between Prenatal Screening Results and Age, Body Weight, Gestational Weeks%简析产前筛查结果和年龄、体质量及孕周的关系

    Institute of Scientific and Technical Information of China (English)

    王子桂

    2015-01-01

    目的:研究产前筛查结果与年龄、体质量和孕周的关系。方法选取1800例孕妇进行研究,利用风险评估软件系统检测孕妇是否存在高风险。结果唐氏综合征风险值和爱德华氏综合征风险值与年龄和体质量有关,开放性神经管缺陷(OSB)风险值与体质量和孕周有关。结论在产前筛查时需避免相关影响因素,保证筛查准确性。%Objective To study the relationship between prenatal screening results and age, body weight, gestational weeks.Methods1800 pregnant women were selected, and determined whether have high risk using the software system of risk assessment.Results Risk value of Down's syndrome and Edward's syndrome were related to age and body mass, the risk value of open neural tube defects (OSB) was associated with body mass and pregnant weeks.Conclusion It is need to avoid related factors in prenatal screening so as to ensure the accuracy of screening.

  17. The utility of cancer-related cultural constructs to understand colorectal cancer screening among African Americans

    Directory of Open Access Journals (Sweden)

    Vetta L. Sanders Thompson

    2013-09-01

    Full Text Available Background. Data suggest that colorectal cancer could be cut by approximately 60% if all people aged 50 years or older received regular screening. Studies have identified socio-cultural attitudes that might inform cancer education and screening promotion campaigns. This article applies item response theory (IRT to a set of survey items selected to assess sociocultural attitudes in order to determine how current measures may affect what we know about how these attitudes affect colorectal cancer screening (CRCS.Design and Methods. A survey of colorectal cancer screening, screening attitudes and cultural beliefs was administered to 1021 African Americans – 683 women and 338 men, ages 50 to 75. Eligibility crite ria for participation included being born in the United States, self-identified African American male or female, age 50 to 75 years. The IRT analysis was performed on 655 individuals with complete data for the 43 observed variables. Results. Twenty-nine items comprise the Multi-construct African American Cultural Survey (MAACS that addresses seven cultural con- structs: mistrust/distrust, privacy, ethnic identity, collectivism, empowerment, and male gender roles. The items provide adequate information about the attitudes of the population across most levels of the constructs assessed. Among the sociocultural variables considered, empowerment (OR=1.078; 95% CI: 1.008, 1.151 had the strongest association with CRCS adherence and privacy showed promise. Conclusions. The MAACS provides a fixed length questionnaire to assess African American CRCS attitudes, two new constructs that might assist in CRCS promotion, and a suggested focus for identification of additional constructs of interest.

  18. Prenatal Care.

    Science.gov (United States)

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  19. Cultural Factors Associated with Breast and Cervical Cancer Screening in Korean American Women in the US: An Integrative Literature Review.

    Science.gov (United States)

    Lee, Shin-Young

    2015-06-01

    This study examined current research theories and methods, cultural factors, and culturally relevant interventions associated with breast and cervical cancer screening in Korean American (KA) women. Based on Ganong's guidelines, the literature on cultural factors associated with breast and cervical cancer screening in KA women was searched using MEDLINE and the Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Sixty-eight articles on breast cancer screening and 66 articles on cervical cancer screening were retrieved from both databases, and a total of 22 articles were included in the literature review based on the selection criteria. Of the 22 studies reviewed, 14 (63.6%) were descriptive and 8 (36.4%) were interventional. Many studies have used individual focused cognitive theories such as health belief model and different types of operationalization for measures of cultural beliefs. Cultural factors associated with breast and cervical cancer screening in KA women that were identified in descriptive quantitative and qualitative studies included family, embarrassment, preventive health orientation, fatalism, and acculturation. Most culturally relevant interventional studies used education programs, and all education was conducted by bilingual and bicultural health educators at sociocultural sites for KA women. Theories focusing on interpersonal relationships and standardized, reliable, and valid instruments to measure cultural concepts are needed to breast and cervical cancer screening research in KA women. Traditional cultural factors associated with cancer screening should be considered for practical implications and future research with KA women. Copyright © 2015. Published by Elsevier B.V.

  20. Correlation analysis of 1206 cases of birth defects in prenatal screening and diagnosis%1206例出生缺陷产前筛查及产前诊断的相关情况分析

    Institute of Scientific and Technical Information of China (English)

    李东海

    2012-01-01

    OBJECTIVE To know the prenatal screening and diagnosis for maternal and infant health care sector, to provide reference for establishing corresponding prevention countermeasures. METHODS Selected a total of 1 206 infants with birth defect during the years of 2008-2011 in our hospital, retrospectively analyzed the prenatal screening and prenatal diagnosis results of birth defects, comparatively analyzed the ratio in different regions without prenatal screening. RESULTS The positive cases in antenatal screening accounted for 33.4% (403/1 206), positive in prenatal diagnosis accounted for 28.8% (347/ 1 206) , without prenatal screening accounted for 9.8% (118/1 206). Interim malformations induced accounted for 25.2% (304/1 206). The first 5 causes of prenatal diagnosis of defect were as follows: neural tube defects, congenital heart disease, cleft lip, chromosomal abnormalities and strephenopodia. The first 5 causes of defect was total 295 cases, proportion of 85.1%, which were as follows; 364 cases with congenital heart disease (53.1%) , ear deformity in 79 cases (11.5%) , cleft lip in 75 cases (10.9%), cryptorchidism in 62 cases (9.1%) , polydactyly in 49 patients (7.2%). The constituent ratio that without prenatal screening (1.4%) in towns was significant lower than in countries (15.4%) (P < 0.05). CONCLUSION In order to reduce the incidence of birth defects, it should strengthen exploration on limbs and features of five sense organs in prenatal screening and diagnosis, can not only concern about the value of screening, and ignore the importance of antenatal diagnosis.%目的 为了解本地区产前筛查及产前诊断状况,给妇婴保健部门制定相应的预防对策提供参考.方法 选择2008 ~2011年期间某院分娩的出生缺陷儿,共计1206例,回顾分析出出生缺陷儿产前筛查与产前诊断结果,对照分析不同区域未进行产前筛查者构成比.结果 产前筛查阳性者占33.4% (403/1206),产前诊断阳性者占28.8

  1. Prenatal exclusion of the HHH syndrome.

    Science.gov (United States)

    Gray, R G; Green, A; Hall, S; McKeown, C

    1995-05-01

    Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

  2. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的临床应用%Clinical applications of serological screening and fetal ultrasonography for prenatal diagnosis of trisomy 18 and trisomy 13

    Institute of Scientific and Technical Information of China (English)

    梁学清; 韦丽萍; 唐娟

    2012-01-01

    Objective: To evaluate the values of serological screening and fetal ultrasonography in prenatal diagnosis of trisomy 18 and trisomy 13. Methods:A total of 780 pregnant women received serological screening and fetal ultrasonography, the samples of amnion fluid were obtained by amniocentesis, the cell culture and chromosomal karyotype analysis were conducted for prenatal diagnosis. Results; Among 780 fetuses, 6 fetuses were found with trisomy 18 and trisomy 13, the incidence was 0.77% , including 3 fetuses with trisomy 18 and 3 fetuses with trisomy 13. Three fetuses with trisomy 18 were found with high risk of serological screening and abnormal ultrasonic structure; and the other three fetuses were found with abnormal ultrasonic structure and low risk of serological screening. Conclusion: Serological screening of pregnant women combined with fetal ultrasonography is an effective method to detect trisomy 18 and trisomy 13 before delivery.%目的:评价利用孕妇血清学筛查与胎儿超声检查在18、13三体综合征胎儿产前诊断的价值.方法:对780例孕妇进行孕妇血清学筛查与胎儿超声检查,羊膜腔穿刺取羊水进行细胞培养染色体核型分析进行产前诊断.结果:780例胎儿中共发现6例18、13三体综合征,发生率为0.77%.其中3例18三体综合征,3例13三体综合征.3例18三体综合征血清学筛查高风险和超声结构异常,其余3例超声检查发现结构异常但血清学筛查为低风险.结论:孕妇血清筛查结合胎儿超声检查是产前检出18、13三体综合征胎儿的有效检查方法.

  3. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

    DEFF Research Database (Denmark)

    Boyd, Patricia Anne; Loane, Maria; Garne, Ester

    2011-01-01

    This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries ...... to differences in screening policies as well as organizational and cultural factors.European Journal of Human Genetics advance online publication, 25 August 2010; doi:10.1038/ejhg.2010.148....

  4. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  5. An integrated microfluidic device in marine microalgae culture for toxicity screening application.

    Science.gov (United States)

    Zheng, Guoxia; Wang, Yunhua; Wang, Zumin; Zhong, Weiliang; Wang, Hu; Li, Yajie

    2013-07-15

    Algal assay using marine microalgae has emerged as an important method to evaluate the toxicity of chemicals, which is currently undertaken using conventional culture and additional detection of physiological cellular endpoints. While effective, this approach can be labor-intensive and thus could benefit from a more streamlined, integrated approach. Microfluidics offers a way to accomplish this goal. Here, we demonstrate a microfluidic device which consists of a concentration gradient generator (CGG), diffusible culturing module and power-free valve system. It allows the processes of chemical liquid dilution and diffusion, micro-scale microalgal culture (in batch or chemostatic conditions), cell stimulation and on-lined screening to be integrated into a single device. Using the device, marine microalgae were successfully cultured and stressed on-chip. The simple assay provides multi-biological response measurements of cell division rate, autofluorescence and esterase activity. This work showed promising in developing a microfluidic platform for toxicity screening based on marine microalgal culture. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Simple screening method for molds producing intracellular mycotoxins in pure cultures.

    Science.gov (United States)

    Filtenborg, O; Frisvad, J C; Svendsen, J A

    1983-02-01

    A simple screening method for molds producing the intracellular mycotoxins brevianamide A, citreoviridin, cyclopiazonic acid, luteoskyrin, penitrem A, roquefortine C, sterigmatocystin, verruculogen, viomellein, and xanthomegnin was developed. After removing an agar plug from the mold culture, the mycelium on the plug is wetted with a drop of methanol-chloroform (1:2). By this treatment the intracellular mycotoxins are extracted within seconds and transferred directly to a thin-layer chromatography plate by immediately placing the plug on the plate while the mycelium is still wet. After removal of the plug, known thin-layer chromatographic procedures are carried out. The substrate (Czapek yeast autolysate agar) and growth conditions (25 degrees C for 7 days) used by Penicillium taxonomists proved suitable for the production of the mycotoxins investigated when 60 known toxigenic isolates and 865 cultures isolated from foods and feedstuffs were tested with this screening method.

  7. Screening for disease resistance in barley cultivars against Bipolaris sorokiniana using callus culture method.

    Science.gov (United States)

    Chand, Ramesh; Sen, Devyani; Prasad, K D; Singh, A K; Bashyal, B M; Prasad, L C; Joshi, A K

    2008-04-01

    Screening for resistant barley genotypes in response to fungal toxin of Bipolaris sorokiniana was assessed on standing barley plants as well as in selected callus lines of the same. For the standing lines tested, those manifesting chlorosis in response to toxin infiltration showed a significantly slower disease progress as compared to the necrotic lines. Also, necrosis in the callus tissues of the susceptible cultivar in MS medium supplemented with different concentrations of the crude toxin was significantly higher than in the callus tissues of the chlorotic lines studied. Similar host response to the toxin in in vitro and field situations open up the possibility of screening barley cultivars for resistance to spot blotch using callus culture as against classical methods of screening in order to increase accuracy and save time and space.

  8. A critical review of theory in breast cancer screening promotion across cultures.

    Science.gov (United States)

    Pasick, Rena J; Burke, Nancy J

    2008-01-01

    This article reviews the contribution and potential of widely used health behavior theories in research designed to understand and redress the disproportionate burden of breast cancer borne by diverse race/ethnic, immigrant, and low-income groups associated with unequal use of mammography. We review the strengths and limitations of widely used theories and the extent to which theory contributes to the understanding of screening disparities and informs effective intervention. The dominant focus of most theories on individual cognition is critically assessed as the abstraction of behavior from its social context. Proposed alternatives emphasize multilevel ecological approaches and the use of anthropologic theory and methods for more culturally grounded understandings of screening behavior. Common and alternative treatments of fatalism exemplify this approach, and descriptive and intervention research exemplars further highlight the integration of screening behavior and sociocultural context.

  9. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  10. Breast and cervical cancer screening among Latinas attending culturally specific educational programs.

    Science.gov (United States)

    Jandorf, Lina; Bursac, Zoran; Pulley, Leavonne; Trevino, Michelle; Castillo, Anabella; Erwin, Deborah O

    2008-01-01

    Latinas in the United States have higher morbidity and mortality rates for breast and cervical cancers (compared with non-Latina Whites), often due to lower screening rates. A community-based participatory research (CBPR) approach could help to improve screening rates by creating a culturally customized educational program for Latino men and women addressing low knowledge, gender roles, and spirituality. This study was designed to assess the effectiveness of a culturally customized program (Esperanza y Vida [Hope and Life]) in increasing breast and cervical cancer screening among Latinas, and to examine how screening rates related to changes in cancer knowledge, differences in ethnic origins, and geographic location. Participants were recruited to attend either a breast and cervical (intervention) or diabetes (control) education program, within a randomized plan. Sixty-nine programs (44 intervention; 25 control) were conducted in Arkansas (AR; n = 39) and New York City (NYC; n = 30) with a total of 847 Latino men and women. Telephone follow-up data were collected on 49% of the women who consented to being contacted 2 months postintervention. At the 2-month follow-up call, screening rates were significantly higher for the intervention versus the control group for clinical breast examination (CBE; 48% vs. 31%; adjusted odds ratio [aOR], 2.2; 95% confidence interval [CI], 1.1-4.2), breast self-examination (45% vs. 27%; aOR, 2.3; 95% CI, 1.1-5.0), and Pap testing (51% vs. 30%; aOR, 3.9; 95% CI, 1.1-14.1), but not for mammography (67% vs. 58%; aOR, 0.7; 95% CI, 0.1-3.6). The aORs accounted for the significant effects of study site (AR vs. NYC) and marital status. Esperanza y Vida has the potential to reduce health disparities in breast and cervical cancer morbidity and mortality rates through increasing cancer screening and thereby increasing early detection.

  11. 产前超声筛查胎儿先天性心脏病的临床价值分析%Analysis on clinical value of prenatal ultrasonography in screening of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱胜; 刘武岩; 曹晔

    2011-01-01

    目的 探讨胎儿超声心动图(FECG)产前筛查胎儿先天性心脏病(CHD)的临床应用价值.方法 采用四腔心、左室流出道、右室流出道、三血管切面四切面法,对6 500例孕20 ~41周孕妇进行产前FECG筛查,以引产后尸解或产后新生儿ECG作为对照标准.结果 6 500例胎儿中,检出胎儿心脏异常69例,包括复杂性先天心脏病部分合并心外畸形39例.结论 四切面检查方法简便可靠,是显示胎儿心脏结构及产前筛查胎儿CHD的重要影像诊断方法.%Objective To analyze the clinical application value of fetal echocardiography ( FECC) in screening of fetal congenital heart disease ( CHD). Methods Prenatal fetal echocardiography screening were performed in 6500 pregnant women ( at 20 ~ 41 weeks of gestation) by four chamber view, left ventricular outflow tract, right ventricular outflow tract and three vessels methods. The result of fetus autopsy from induced abortion or neonatal echocardiography was the control criterion. Results In all 6500 fetus, 69 cases of cardiac abnormalities were confirmed by screening, including 39 cases of complex congenital heart diseases, partial cases combined with extracardiac abnormality. Conclusion The four chamber view is a simple and effective method to detect the fetal cardiac structure which has important imaging diagnostic value for prenatal fetal congenital heart disease screening.

  12. The Value of Down Syndrome Screening Combined with Four Dimensional Colour Doppler Ultrasound in Prenatal Diagnosis%唐氏筛查联合四维彩超在产前诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    邓玲; 汤辉; 黎兴盛; 郭平

    2015-01-01

    Objective:To explore the application value of Down syndrome screening combined with four dimensional colour doppler ultrasound in prenatal diagnosis.Method:From January 2011 to December 2014, 2578 cases of pregnant women for 14 to 24 weeks were selected in maternity clinics in our hospital,they were examined by Down syndrome screening and four dimensional colour doppler ultrasound.Result:2578 cases of pregnant women were all examined by Down syndrome screening and four dimensional colour doppler ultrasound. Positive rate of Down syndrome screening was 4.84%,positive rate of was four dimensional colour doppler ultrasound was 0.96%,positive rate of combined examination was 5.81%, positive rate between Down syndrome screening and combined examination had no statistical significance (P>0.05),positive rate between four dimensional colour doppler ultrasound and combined examination had statistical significance(P0.05),与四维彩超筛查比较差异有统计学意义(P<0.05).结论:唐氏筛查联合四维彩超在产前筛查中的意义重大,可提高唐氏儿和其他染色体病儿及各种畸形的诊断率,及时做出判断是否终止妊娠,为家庭和社会减轻了沉重的负担.

  13. Adapting the SRQ for Ethiopian populations: a culturally-sensitive psychiatric screening instrument.

    Science.gov (United States)

    Youngmann, Rafael; Zilber, Nelly; Workneh, Fikre; Giel, Robert

    2008-12-01

    The objective of the study was to develop a culturally sensitive psychiatric screening instrument valid for Ethiopians in Ethiopia and Israel. The study sample was composed of 356 Amharic-speaking Ethiopians from Ethiopia and Israel, aged 18-55, divided into three groups: i) general population; ii) people in non-psychiatric treatment; iii) people in psychiatric treatment. They were interviewed with the Self-Reporting Questionnaire (SRQ), modified to include 10 culturally specific items, and the Brief Psychiatric Research Scale (BPRS) as a criterion of psychopathology. Physicians also completed an encounter form about the presence of mental health symptoms in participants. To make the questions more culturespecific, the translation of 12 items on the SRQ was changed. The content, construct, and criterion validity of each question were also examined, leading to the deletion of five items. The validity of the revised instrument (SRQ-F) was superior to that of the original instrument (SRQ). This study demonstrates the need for psychiatric screening instruments to be adapted to different cultures by incorporating meaningful translations and adding culturally specific items.

  14. Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment

    NARCIS (Netherlands)

    Beulen, L.; Grutters, J.P.C.; Faas, B.H.W.; Feenstra, I.; Groenewoud, H.; Vugt, J.M.G. van; Bekker, M.N.

    2015-01-01

    OBJECTIVE: This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD: A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal

  15. 8020例孕中期母血清产前筛查结果回顾性分析%Rusults retrospective analysis of maternal serum prenatal screening in the second trimester

    Institute of Scientific and Technical Information of China (English)

    江德洋; 韩保良; 李晓君

    2013-01-01

    目的 为了解六安市21-三体综合征(唐氏综合征)、18-三体综合征(爱德华氏综合征)及NTD(神经管畸形)的发病率,旨在促进六安市产前筛查工作的更好开展.方法 采用时间分辨荧光免疫分析法(DELFIA)对全市2008年1月至2012年4月在我院产前门诊8020例孕妇进行产前筛查.结果 8020例孕妇中21-三体综合征高风险213例,高风险率1/38、18-三体综合征高风险43例,高风险率1/187;NTD高风险64例,高风险率1/125,确诊NTD1例.结论 结果表明六安市对产前筛查预防工作有成效,进一步开展产前筛查工作;扩大筛查覆盖率,对实施出生缺陷干预工程,提高出生人口素质有重大意义.%Objective:To understand the prevalence rate of trisomy 21 syndrome (Down syndrome), trisomy 18 syndrome (Edward's syndrome) and NTD (Neural tube defects) in Lu'an city, aim to promote the prenatal screening. Methods; Carrying out prenatal screening or 8020 outpatient antenatal pregnant women in Jin'an District Maternal and Child Health Hospital from January 2008to April 2012 by time -resolved fluorescence immunoassay (TRFIA). Results; Cases with high risk of trisomy 21 syndrome, trisomy 18 syndrome, NTD64 is 213, 43 and 64, with the rate of 1/ 38, 1/ 187 and 1/ 125, 1 NTD case was confirmed. Conclusion; the results showed the effectiveness of the prenatal screening in Lu'an city on of. We should do further to expand screening coverage, which is benefit for the implementation of birth defect intervention project, and for improving the population quality.

  16. Determination of triterpenic acids and screening for valuable secondary metabolites in Salvia sp. suspension cultures.

    Science.gov (United States)

    Kümmritz, Sibylle; Haas, Christiane; Pavlov, Atanas I; Geib, Doris; Ulber, Roland; Bley, Thomas; Steingroewer, Juliane

    2014-01-01

    Plant in vitro cultures are a prospective alternative for biochemicals production, for example the triterpenes oleanolic and ursolic acid present in plants and cell cultures of Salvia sp. Our objective was to develop a suitable analysis protocol for evaluation of triterpenic acid yield in plant raw material and in vitro cultures supporting selection processes. Moreover, valuable bioactive compounds had to be revealed. Thus, different strategies enhancing the separation for a sensitive and effective HPLC-UV method were investigated and the developed method was validated for linearity, precision, accuracy, limits of detection and quantification. A baseline separation of these isomers enabled detection limits of below 0.4 microg/mL and quantification limits of about 1.2 microg/mL. Over the tested concentration range a good linearity was observed (R2 > 0.9999). The variations in the method were below 6% for intra- and inter-day assays of concentration. Recoveries were between 85-98% for both compounds using ethanol as extraction solvent. Additionally, metabolite profiling of cell suspension culture extracts by GC-MS has shown the production variability of different plant metabolites and especially the presence of plant phenols and sterols. These studies provide a method suitable for screening plant and cell culture productivity of triterpenic acids and highlighted interesting co-products of plant cell cultures.

  17. BioSig3D: High Content Screening of Three-Dimensional Cell Culture Models: e0148379

    National Research Council Canada - National Science Library

    Cemal Cagatay Bilgin; Gerald Fontenay; Qingsu Cheng; Hang Chang; Ju Han; Bahram Parvin

    2016-01-01

    ...) cell culture models that are imaged in full 3D volume. It provides an end-to-end solution for designing high content screening assays, based on colony organization that is derived from segmentation of nuclei in each colony...

  18. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  19. Comparison of different strategies in prenatal screening for Down's syndrome%三种产前筛查方法的对比研究

    Institute of Scientific and Technical Information of China (English)

    唐华; 王华; 周莹; 唐汪澜; 谢琼

    2011-01-01

    Objective: To assess and compare the effectiveness of three different strategies for prenatal screening for Down's syndrome (the first trimester test, the second trimester test, and the integrated test) and to determine the most useful way for Down's syndrome screening. Methods: serum PAPP - A and free β - HCG levels of 7802 pregnant women with 9 ~ 13 +6 weeks and serum AFP and free β -HCG and free uE3 levels of 11 911 pregnant women with 15 ~ 20+6 weeks were detected by time -distinguished fluorescence immunoassay. Down's syndrome risk value was calculated with lifecycle 3.0 software, with cut -off value of 1:270. The pregnant women whose value bigger than 1:270 would be as high risk of Down's syndrome and needed to have the cordocentesis for fetal karyotype. Results: 19 713 pregrant women accepted the Down's syndrome screening, 1059 of which were detected positive for Down's syndrome with false positive rate of 5.37% (1059/19713). 607 cases received fetal karyotype, accotmting for 57.32% (607/1059), detecting abnormal fetal chromosome in 24 cases with detecing rate 3.95% (24/607), including 4 cases of Down's syndrome and 3 cases of 18 - trisome. Beside this, 5 neural tube defects cases were found in the second trimester test. 1 case of Down's syndrome was confirmed after birth. The three different strategies' (the first trimester test, the second trimester test, and the integrated test) false positive rate were: 5.79%, 5. 10%, 4. 04%. Conclusion: The integrated test was better than the first trimester test and the second trimester test.%目的 探讨孕早期、中期和整合筛查对唐氏综合征筛查对检出胎儿染色体异常和妊娠不良结局的实用价值.方法 应用时间分辨荧光免疫法对7802例孕9周~13+6周和11911例孕15周~20+6周妇女进行血清标记物妊娠相关蛋白(PAPP-A)和游离B绒毛膜促性腺激素(free β-HCG)或甲胎蛋白(AFP)、游离B绒毛膜促性腺激素(free

  20. Development of a culturally tailored Internet intervention promoting hepatitis B screening in the Turkish community in the Netherlands

    NARCIS (Netherlands)

    Van Der Veen, Ytje J. J.; Van Empelen, Pepijn; Richardus, Jan Hendrik

    2012-01-01

    Hepatitis B virus infections are an important health problem in the Turkish community in the Netherlands. Screening for hepatitis B should be promoted through public health interventions, which take into account the socio-cultural and behavioural determinants that influence screening. The Interventi

  1. Cultural and Linguistic Adaptation of a Multimedia Colorectal Cancer Screening Decision Aid for Spanish Speaking Latinos

    Science.gov (United States)

    Ko, Linda K.; Reuland, Daniel; Jolles, Monica; Clay, Rebecca; Pignone, Michael

    2014-01-01

    As the United States becomes more linguistically and culturally diverse, there is a need for effective health communication interventions that target diverse and most vulnerable populations. Latinos also have the lowest colorectal (CRC) screening rates of any ethnic group in the U.S. To address such disparities, health communication interventionists are often faced with the challenge to adapt existing interventions from English into Spanish in a way that retains essential elements of the original intervention while also addressing the linguistic needs and cultural perspectives of the target population. We describe the conceptual framework, context, rationale, methods, and findings of a formative research process used in creating a Spanish language version of an evidenced-based (English language) multimedia CRC screening decision aid. Our multi-step process included identification of essential elements of the existing intervention, literature review, assessment of the regional context and engagement of key stakeholders, and solicitation of direct input from target population. We integrated these findings in the creation of the new adapted intervention. We describe how we used this process to identify and integrate socio-cultural themes such as personalism (personalismo), familism (familismo), fear (miedo), embarrassment (verguenza), power distance (respeto), machismo, and trust (confianza) into the Spanish language decision aid. PMID:24328496

  2. Intention, Subjective Norms, and Cancer Screening in the Context of Relational Culture

    Science.gov (United States)

    Pasick, Rena J.; Barker, Judith C.; Otero-Sabogal, Regina; Burke, Nancy J.; Joseph, Galen; Guerra, Claudia

    2010-01-01

    Research targeting disparities in breast cancer detection has mainly utilized theories that do not account for social context and culture. Most mammography promotion studies have used a conceptual framework centered in the cognitive constructs of intention (commonly regarded as the most important determinant of screening behavior), self-efficacy, perceived benefit, perceived susceptibility, and/or subjective norms. The meaning and applicability of these constructs in diverse communities are unknown. The purpose of this study is to inductively explore the social context of Filipina and Latina women (the sociocultural forces that shape people’s day-to-day experiences and that directly and indirectly affect health and behavior) to better understand mammography screening behavior. One powerful aspect of social context that emerged from the findings was relational culture, the processes of interdependence and interconnectedness among individuals and groups and the prioritization of these connections above virtually all else. The authors examine the appropriateness of subjective norms and intentions in the context of relational culture and identify inconsistencies that suggest varied meanings from those intended by behavioral theorists. PMID:19805793

  3. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  4. International experience of informed consent and genetic counseling on non-invasive prenatal testing applied in Down syndrome prenatal screening%非侵入性产前检测技术知情同意与遗传咨询的国际经验

    Institute of Scientific and Technical Information of China (English)

    明坚; 许艳; 周萍; 黄葭燕; 陈英耀

    2015-01-01

    This paper summarized the international experience on the implementation of informed consent and genetic counseling when non-invasive prenatal testing(NIPT) applied in Down syndrome prenatal screening. Then its implications for China were discussed and some policy recommendations were put forward,including enhancing the training to the counselors and doctors,clearly defining the content of genetic counseling,and further standardizing the informed consent implementation.%围绕非侵入性产前检测技术(NIPT)应用于唐氏产前筛查的知情同意与遗传咨询实施,总结分析了国际相关经验与研究,并结合我国国情提出了相关政策建议。建议加强相关人员培训,明确知情告知内容,进一步规范知情同意与遗传咨询的操作实施。

  5. The relationship between high risk of prenatal serological screening for Down's syndrome and chromosomal abnormalities%唐氏综合征产前血清学筛查高风险与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    吴坚柱; 陈宝江; 陈健生; 谢英俊; 林少宾

    2011-01-01

    摘要;目的 探讨联合高龄和超声异常因素对唐氏综合征产前血清学筛查检出染色体异常的影响.方法 对2005年1月至2010年4月1598例因唐氏综合征产前血清学筛查高风险来中山大学附属第一医院就诊的患者行胎儿染色体核型分析,分成血清学筛查高风险组、血清学筛查高风险合并高龄组、血清学筛查高风险合并超声异常组和血清学筛查高风险合并高龄、超声异常组4组,分析和比较各组染色体异常检出情况.结果 血清学筛查高风险合并高龄、超声异常组和血清学筛查高风险合并超声异常组的21三体阳性率和染色体异常率均显著高于血清学筛查高风险组;血清学筛查高风险合并高龄组的21三体阳性率和染色体异常率与血清学筛查高风险组的差异无统计学意义;血清学筛查高风险合并高龄、超声异常组的21三体阳性率显著高于血清学筛查高风险合并超声异常组.结论 唐氏综合征产前血清学筛查高风险合并其他产前诊断指征越多,患唐氏综合征的可能性越大,其中超声异常影响最大,高龄影响较小.%Objective; To investigate the influence of detecting chromosomal abnormalities in prenatal serological screening for Down's syndrome when combined with factors of advanced age and ultrasonic abnormalities. Methods: 1598 cases were chosen. All patients were done fetal karyotype analysis for high risk of prenatal serological screening for Down's syndrome. They were divided into four groups; high risk of serological screening, high risk of serological screening complicating with advanced age, high risk of serologi-cal screening complicating with ultrasonic abnormalities and high risk of serological screening complicating with advanced age and ultra-sonic abnormalities. Compare the detection of chromosomal abnormalities in the groups. Results: Positive rate of trisomy 21 and chro-mosome abnormal rate were significant

  6. Prioritizing prevention: culture, context, and cervical cancer screening among Vietnamese American women.

    Science.gov (United States)

    Gregg, Jessica; Nguyen-Truong, Connie K Y; Wang, Pei-ru; Kobus, Amy

    2011-12-01

    Few studies have investigated what Vietnamese American women believe about the Pap smear or how those beliefs might influence behavior. Thirty-one Vietnamese American women recruited through snowball sampling were interviewed about their beliefs regarding the Pap smear. Interviews were qualitatively analyzed using a theoretically informed, inductive approach. The women interviewed emphasized the importance of primary prevention of disease through culturally-informed personal health regimens. They were also largely unfamiliar with the Pap smear, but believed that gynecological exams in general were effective and necessary for disease detection. Finally, when access to gynecological care was difficult, women's faith in their own preventive behaviors helped alleviate their concerns over lack of care. While culturally associated beliefs do not simply "cause" Vietnamese American women to seek or avoid Pap smears, they do influence screening behaviors to a greater or lesser degree, depending on other contextual variables.

  7. A cultural research approach to instrument development: the case of breast and cervical cancer screening among Latino and Anglo women

    Science.gov (United States)

    Betancourt, Hector; Flynn, Patricia M.; Riggs, Matt; Garberoglio, Carlos

    2010-01-01

    To illustrate the implementation of a bottom-up approach to the study of culture in health disparities, this article describes the development of a cultural cancer screening scale (CCSS) using mixed methodologies. The aim was to identify cultural factors relevant to breast and cervical cancer screening, develop an instrument to assess them and examine its preliminary psychometric properties among Latin American (Latino) and non-Latino White (Anglo) women in Southern California. Seventy-eight Latino and Anglo women participated in semi-structured interviews, which were content coded based on Triandis' methods for the analysis of subjective culture. Based on the emerging cultural elements, items relevant to cancer screening were developed and pilot tested with 161 participants. After the instrument was refined, 314 Latino and Anglo women from various socioeconomic backgrounds completed the CCSS and data were factor analyzed resulting in five cultural factors: cancer screening fatalism, negative beliefs about health professionals, catastrophic disease expectations, symptomatic deterrents and sociocultural deterrents. The instrument demonstrated measurement equivalence, adequate reliability and predictive validity. The research and the CCSS are discussed in terms of implications for the study of culture in relation to health disparities and the development of evidence-based interventions with culturally diverse populations and their health professionals. PMID:20864605

  8. Role of Non-Invasive Detection of DNA in Prenatal Screening for Down's Syndrome%无创DNA检测在唐氏综合征产前筛查中的作用

    Institute of Scientific and Technical Information of China (English)

    侯朝晖; 刘华平; 陈冰; 李秀军; 任东平; 任力; 郭晓东

    2013-01-01

    目的:通过比较无创DNA检测和孕中期血清学筛查两种方法的筛查阳性率,从而肯定无创DNA检测在唐氏综合征产前筛查中的实用价值.方法:对500例单胎孕妇进行血清标记物(AFP+β-HCG)-联指标检测,应用配套软件计算唐氏综合征风险;对496例孕妇外周血中的游离DNA片段(含胎儿游离DNA)进行高通量测序,并将测序结果进行生物信息学分析,得出胎儿发生染色体非整倍体的风险率,并追踪胎儿和孕妇的情况.结果:唐氏综合征血清筛查组高危孕妇22例、阳性率为4.4%,假阳性率4.2%;无创DNA检测组筛查阳性孕妇3例,阳性率为0.6%,唐氏综合征检出率为100%.两种方法用于唐氏综合征产前筛查的差异有显著性(P<0.01).结论:无创DNA检测适用范围广、准确率高,是产前筛查是唐氏综合征的有效方法.%Objective: To compare the non-invasive detection of DNA and second trimester serum screening positive rate of screening of two methods, which must be non-invasive detection of DNA in prenatal screening for Down's syndrome practical value. Methods: 500 cases single fetal pregnant women were detected respectively serum mark object ( afp+ beta -hcg ), using software to calculate the risk of Down's syndrome. 496 cases of pregnant women were chosen to detect the free DNA fragment of peripheral blood ( with fetal free DNA) was sequenced and analyzed, then fetal chromosome aneuploid of risk rate was obtained, and followed up fetal and pregnant women. Results: Serum screening for Down's syndrome group of 22 patients with high risk pregnant women, the positive rate was 4.4%, a false positive rate of 4.2%; non-invasive detection of DNA groups screen-positive pregnant women in 3 cases, the positive rate was 0.6%, Down's syndrome detection rates was 100%. There were significant differences of prenatal screening for Down' s syndrome by these two methods (P<0.01 ). Conclusions: Non - invasive detection of DNA

  9. 产前超声筛查胎儿唇裂和(或)腭裂及相关畸形%Prenatal ultrasound screening for fetal cleft lip and palate and related abnormalities

    Institute of Scientific and Technical Information of China (English)

    甄理; 杨昕; 易翠兴; 欧燕媚; 李东至

    2012-01-01

    Objective To evaluate the sensitivity and specificity of prenatal ultrasound for detecting fetal cleft lip and palate,and the diagnosis rate of associated congenital structural and chromosomal abnormalities.Methods Thirty one thousand two hundred and forty five singleton pregnant women accepted prenatal examination and delivered in Guangzhou Women & Children' s Medical Center from Jan.2006 to Dec.2010 were recruited in this study.All pregnant women underwent prenatal ultrasound screening during second trimester,and whose fetuses were suspected to be cleft lip and palate were suggested to accept karyotype analysis.All babies delivered received oral examination to diagnose cleft lip and palate.Results Cleft lip and palate was diagnosed in 48 cases (1.5‰,48/31 245).Among which,there were 16 cases (33.3%,16/48) of cleft lip,21 cases (43.8%,21/48) of cleft lip with cleft palate and 11 cases (22.9%,11/48) of cleft palate.Prenatal ultrasound screening suggested 18 cases of cleft lip and 14 cases were comfirmed after birth with the accuracy rate of 77.8%,3 cases were diagnosed to be cleft lip with cleft palate and one cases was misdiagnosed.Prenatal ultrasound screening suggested 18 cases of cleft lip with cleft palate in accordance with the diagnosis after birth.Thirteen cases were normal in prenatal ultrasound screening,but two were diagnosed as cleft lip and 11 were diagnosed as cleft palate after birth.The sensitivity of prenatal ultrasound screening for cleft lip and cleft lip with cleft palate was 86.5%(32/37),and the sensitivity for cleft lip and palate was 66.7% (32/48),the false positive rate was 2.1% (1/48).Ten cases (27.8%,10/36) of cleft lip with cleft palate were found to be complicated with other abnormalities.Nine of the 18 cases prenatally diagnosed cleft lip with cleft palate accepted karyotype analysis and 7 were abnormal.Twenty-three of 36 cases with fetal cleft lip and palate in prenatal ultrasound screening were induced

  10. 不同方法在唐氏综合征产前筛查中的比较研究%Comparative study of different methods in Down's syndrome prenatal screening

    Institute of Scientific and Technical Information of China (English)

    欧秀月; 黄劲柏

    2013-01-01

    Objective:To comparison of different period of two CRC screening with the traditional two CRC screening in second trimester prenatal for Down's syndrome in effect. Methods:Using the Roche electrochemical detection technology,1289 cases accepted antenatal screening of pregnant women and5 patients who had been diagnosed with Down syndrome pregnancy of cryopreserved serum specimens in gestational weeks11 to14weeks of pregnancy determination of PAPP-A, Free beta-HCG, and then in 16~20 weeks pregnancy detection of AFP, HCG, concentration, were calculated for two screening and triple screening for risk value, the detection rate and false positive rate.Results:The study of early pregnancy detection of Down syndrome in 21 cases of high risk pregnant women, the second trimester detection of high risk pregnant women in 31 cases, including a period of high risk pregnant women in 20 cases, visible, there were32 cases of high risk pregnant women,31 cases underwent amnion cavity puncture examination, prenatal diagnosis in 1 cases, the positive rate is 3.2%. In 32 cases the screening case,30~40 years old accounted for 16 cases (50%), visible in women of advanced maternal age is down syndrome risk population.When the cut-off value of 1 to 270, with two triple screening for CRC screening for Down syndrome detection rates were65.2%;when the cut-off value of 1:380, different period two CRC screening detection rate was significantly higher than that of the traditional two CRC screening in( P<0.05) .Conclusions:In pregnant women during different periods of the traditional two CRC screening in second trimester prenatal is more effective for Down syndrome screening method, it is necessary to develop the region for the risk of cutting value, in order to improve prenatal screening efficiency.%目的:比较不同时期二联筛查与传统孕中期二联筛查在唐氏综合征产前筛查中的效果。方法:采用罗氏电化学检测技术,对1289例同意

  11. Control Prenatal

    Directory of Open Access Journals (Sweden)

    P. Susana Aguilera, DRA.

    2014-11-01

    Full Text Available Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así lograr un buen resultado perinatal. Esto se realiza a través de la historia médica y reproductiva de la mujer, el examen físico, la realización de algunos exámenes de laboratorio y exámenes de ultrasonido. Además es importante promover estilos de vida saludables, la suplementación de ácido fólico, una consejería nutricional y educación al respecto.

  12. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Science.gov (United States)

    Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. PMID:24795887

  13. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Sandra García-Herrero

    2014-01-01

    Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  14. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    Science.gov (United States)

    García-Herrero, Sandra; Campos-Galindo, Inmaculada; Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos; Rubio, Carmen

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  15. Magnetic Alignment of Microelements Containing Cultured Neuronal Networks for High-Throughput Screening.

    Science.gov (United States)

    Gordon, Kent R; Wang, Yuli; Allbritton, Nancy L; Taylor, Anne Marion

    2015-10-01

    High-throughput screening (HTS) on neurons presents unique difficulties because they are postmitotic, limited in supply, and challenging to harvest from animals or generate from stem cells. These limitations have hindered neurological drug discovery, leaving an unmet need to develop cost-effective technology for HTS using neurons. Traditional screening methods use up to 20,000 neurons per well in 384-well plates. To increase throughput, we use "microraft" arrays, consisting of 1600 square, releasable, paramagnetic, polystyrene microelements (microrafts), each providing a culture surface for 500-700 neurons. These microrafts can be detached from the array and transferred to 384-well plates for HTS; however, they must be centered within wells for automated imaging. Here, we developed a magnet array plate, compatible with HTS fluid-handling systems, to center microrafts within wells. We used finite element analysis to select an effective size of the magnets and confirmed that adjacent magnetic fields do not interfere. We then experimentally tested the plate's centering ability and found a centering efficiency of 100%, compared with 4.35% using a flat magnet. We concluded that microrafts could be centered after settling randomly within the well, overcoming friction, and confirmed these results by centering microrafts containing hippocampal neurons cultured for 8 days.

  16. Prenatal substance use in a Western urban community.

    OpenAIRE

    Buchi, K F; Varner, M W

    1994-01-01

    To assess the extent of prenatal substance use in a predominantly white population in an urban area of the western United States and to develop a risk profile for this population, a cross-sectional prevalence study was done. Prenatal clinics (10 public and 10 private) anonymously recorded demographic information about and collected aliquots of routinely obtained urine specimens from women during prenatal visits. Urine specimens were screened by enzyme immunoassay for amphetamines, marijuana, ...

  17. Clinical application of standard prenatal ultrasound in screening the fetal malformation%规范化产前超声筛查胎儿异常的临床应用

    Institute of Scientific and Technical Information of China (English)

    何宇; 魏振彤; 费君伟; 冯丽华; 于晓伟

    2011-01-01

    Objective: To evaluate the clinical value of standardization prenatal ultrasound in screening the fetal malformation. Methods; Totally 2 175 pregnant women were inspected by standardization prenatal ultrasound examination in our hospital during May 2006 to March 2011. Fetal standard ultrasound cuts were saved . The content and form of ultrasound report were standard. These cases were followed to pregnancy ending. Results; 201 cases of fetal structural abnormalities (9. 23% ) were diagnosed by standardization ultrasound examination. 4 cases of fetal attachments abnormalities were diagnosed. The central nervous system malformation ranked first, uro-genital system malformation, fetal edema syndrome, digestive system malformation, cardiac abnormalities were followed Conclusion; The detecting rate of ultrasound screening in standardization prenatal diagnosis is much higher, and it has significant clinical utilities in diagnosing fetal malformation.%目的:评估规范化产前超声筛查胎儿异常的临床应用价值.方法:2006年5月~2011年3月进行规范化超声检查孕妇2 175例,规范化保存胎儿标准切面图片,规范化超声报告的内容和格式并追踪妊娠结局.结果:规范化超声检查胎儿2 175例,发现和产后证实胎儿异常201例(9.23%),其中胎儿附属物异常4例.胎儿畸形类型中中枢神经系统畸形占首位,其次为泌尿系统畸形、胎儿水肿综合征、消化系统畸形、心血管系统畸形.结论:规范化产前超声诊断出生缺陷检出率较高,对于诊断胎儿结构异常有着非常重要的临床价值.

  18. Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou%广州市早孕期产前筛查胎儿染色体异常的结果分析

    Institute of Scientific and Technical Information of China (English)

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

    Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency (NT) in Guangzhou region.Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012.A total of 43 703 pregnancies between 9 and 13+6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA),free β-human chorionic gonadotropin (free β-hCG) with or without crownrump length (CRL).Nuchal translucency was measured by ultrasonographic scan between 11 and 13+6 weeks of pregnancy.Gestational age was estimated by ultrasonographic scan.The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle.Comparing the difference between the combined screening (PAPPA,free β-hCG and NT) and serum marker screening (PAPPA and free β-hCG).Results Among the 43 703 pregnant women,screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive.The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities,of which 54 cases suffered from Down syndrome,13 had trisomy 18,and 75 had other chromosome abnormalities.The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%,respectively.The positive rate is lower,and the detection rate is higher in combined screening group than serum marker screening group.The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group.The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy.The combined screening method is superior to the serum

  19. 上海市浦东新区孕妇参加唐氏综合征产前筛查服务的影响因素%Influencing factors of accepting prenatal screening on Down's syndrome (DS) for the pregnant women in Pudong new area

    Institute of Scientific and Technical Information of China (English)

    黄勤瑾; 梁霁; 杨慧琳; 杨伶俐; 施君瑶; 梁敏红

    2012-01-01

    目的:通过调查社区产后妇女孕期接受唐氏综合征(DS)筛查服务的情况,探索影响DS产前筛查服务的因素.方法:选择上海市浦东新区10个街镇为研究社区,共调查1 397名产后妇女.接受DS筛查服务的情况.结果:从多因素分析结果可见,促进调查对象参加唐氏综合征产前筛查服务利用的因素有:本市户籍(OR=1.91)、文化程度大学本科以上(OR=1.51)、职业为公司职员(OR=1.39)、收入4 000~8 000元/月(OR =2.01)、收入8 000元/月以上(OR=3.20)、有保险(OR=1.40)以及参加过孕妇学校(OR=1.55).结论:降低筛查收费,开展DS产前筛查健康教育,加强外地户籍孕产期保健管理,构建DS产前筛查综合服务模式,可促进DS产前筛查的覆盖,提高服务可及性.%Objective; Through investigating the current situation of postpartum women's participation of DS screening during their pregnancy, to explore the influencing factors of accepting prenatal DS screening. Methods -A total of 1 397 postpartum women from ten street towns of Shanghais Pudong new area were selected. The situation of accepting prenatal DS screening were analyzed. Results: The mult-ivariate analysis results shown that the factors of accepting prenatal DS screening included household registration of Shanghai ( OR = 1.91), education above university degree ( OR = 1.51), occupation with company employee ( OR = 1. 39 ) , income between 4 000 - 8 000 Yuan/ month (OR =2.01) , income above 8 000 Yuan/month (OR =3.20) , had insurance (OR = 1. 40) and had attended school for pregnant women (OR = 1.55) . Conclusion; Reducing screening charge, health education on prenatal DS screening, enhancing nonlocal pregnant period health ?care management and building comprehensive prenatal DS screening service mode can promote the coverage of prenatal DS screening and improve the accessibility of the service.

  20. Hepatitis B screening in the Turkish-Dutch population in Rotterdam, the Netherlands; qualitative assessment of socio-cultural determinants

    Directory of Open Access Journals (Sweden)

    Voeten Hélène ACM

    2009-09-01

    Full Text Available Abstract Background Hepatitis B is an important health problem in the Turkish community in the Netherlands. Increased voluntary screening is necessary in this community, to detect individuals eligible for treatment and to prevent further transmission of the disease. Methods We investigated socio-cultural determinants associated with hepatitis B screening in male and female, first and second generation Turkish migrants, by means of Focus Group Discussions. Results Socio-cultural themes related to hepatitis B screening were identified; these were social norm, social support, sensitivity regarding sexuality, reputation, responsiveness to authority, religious responsibility, cleanliness and religious doctrine regarding health and disease, and the perceived efficacy of Dutch health care services. Motivating factors were the (religious responsibility for one's health, the perceived obligation when being invited for screening, and social support to get tested for hepatitis B. Perceived barriers were the association of hepatitis B screening with STDs or sexual activity, the perception of low control over one's health, and the perceived low efficacy of the Dutch health care services. Reputation could act as either a motivator or barrier. Conclusion This study identified relevant socio-cultural themes related to hepatitis B screening, which may serve to customize interventions aimed at the promotion of voluntary hepatitis B screening in the Turkish-Dutch population in the Netherlands.

  1. Three-dimensional cell culture models for anticancer drug screening: Worth the effort?

    Science.gov (United States)

    Verjans, Eddy-Tim; Doijen, Jordi; Luyten, Walter; Landuyt, Bart; Schoofs, Liliane

    2017-06-15

    High attrition of new oncology drug candidates in clinical trials is partially caused by the poor predictive capacity of artificial monolayer cell culture assays early in drug discovery. Monolayer assays do not take the natural three-dimensional (3D) microenvironment of cells into account. As a result, false positive compounds often enter clinical trials, leading to high dropout rates and a waste of time and money. Over the past 2 decades, tissue engineers and cell biologists have developed a broad range of 3D in vitro culturing tools that better represent in vivo cell biology. These tools preserve the 3D architecture of cells and can be used to predict toxicity of and resistance against antitumor agents. Recent progress in tissue engineering further improves 3D models by taking into account the tumor microenvironment, which is important for metastatic progression and vascularization. However, the widespread implementation of 3D cell cultures into cell-based research programs has been limited by various factors, including their cost and reproducibility. In addition, different 3D cell culture techniques often produce spheroids of different size and shape, which can strongly influence drug efficacy and toxicity. Hence, it is imperative to morphometrically characterize multicellular spheroids to avoid generalizations among different spheroid types. Standardized 3D culturing procedures could further reduce data variability and enhance biological relevance. Here, we critically evaluate the benefits and challenges inherent to growing cells in 3D, along with an overview of the techniques used to form spheroids. This is done with a specific focus on antitumor drug screening. © 2017 Wiley Periodicals, Inc.

  2. 孕中期复杂性先心病的产前超声筛查%Ultrasound Prenatal Screening for Complex Congenital Heart Disease During the Second Trimester

    Institute of Scientific and Technical Information of China (English)

    孟昕

    2014-01-01

    目的:探讨孕中期超声对复杂性先天性心脏病的筛查作用,提高复杂性先心病的检出率。方法2010年10月至2013年10月期间,我院7295例孕妇于孕21~40周,分别进行对照组(月超检查)和观察组(通过美国G耘灾燥造怎泽燥灶730彩色多普勒超声诊断仪,通过心脏超声筛查的5个标准切面,发现异常心脏节段,再通过彩色多普勒血流信号,观察房室、大动脉血流情况,分析先天性心脏病类型)检查。产前超声诊断结果与本院尸检结果,进行对比分析。结果与对照组相比,观察组复杂性先天性心脏病的临床诊断率明显升高(0.27豫增泽.0.12豫),差异有统计学意义(孕<0.05)。7295例胎儿检出20例复杂性先天性心脏病,其中6例合并心外畸形,14例本院引产,其尸检结果与产前超声诊断结果相一致。结论复杂性先天性心脏病的畸形情况多变,超声分段检查结合彩色多普勒超声的产前超声筛查能够有效提高复杂性先心病的检出率。%Objective To explore the effect of ultrasound prenatal screening for complex congenital heart disease during the second trimester, and to improve the detection rate of complex congenital heart disease. Methods From October 2010 to October 2013, 7 295 pregnant women (pregnant between 21~40 weeks) in our hospital received the B-ultrasonic examination (control group) and color Doppler ultrasonography (GE Voluson 730) examination (observation group) respectively. Color Doppler ultrasonography examination found out abnormal heart segments through screening five standard section of cardiac ultrasound, then by color Doppler flow signals, the atrioventricular and aortic blood flow situation were observed, and the types of congenital heart disease were analyzed. Prenatal ultrasound diagnosis results and hospital autopsy results were taken for comparative analysis. Results Compared with the control group, the clinical diagnosis

  3. Analysis of the serological screening index and prenatal diagnosis findings in 8606 women in the second trimester%8606例中孕期妇女血清学三联筛查及产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    朱翔; 许芳; 王玉萍; 付夏; 李书勤; 李莉; 浦春; 武其文

    2016-01-01

    pregmant women.Karyotype analysis for amniotic fluid and fluorescence in situ hybridization were offered to the women at high risks ,and tele-phone interview was done to the women at low risks and those at high risks refusing prenatal diagnosis .Results:①Screened positive rates for Down′s syn-drome(DS),Edward′s syndrome(ES) and opening neural tube defects(ONTD) were 6.47%(557/8606),0.17%(15/8606) and 0.56%(48/8606) in teh 8 606 women;② Prenatal diagnosis by amniotic cell culturing revealed DS in 8 cases and ES in 2.Besides,chromosome karyotype determination of the amniotic cells revealed Turner syndrome in 3 cases,Klinefelter syndrome in 1 and chromosomal abnormalities in 2;③ Telephone interview showed that se-rological indicators had screened 84.62% of DS in prenatal diagnosis,though false positive rate(6.34%) and false negative rate(0.02%) occurred. Conclusion: Second trimester serological screening plus amniocentesis may be valuable role in prevention of common chromosome syndromes .

  4. Development of a 3D Tissue Culture-Based High-Content Screening Platform That Uses Phenotypic Profiling to Discriminate Selective Inhibitors of Receptor Tyrosine Kinases.

    NARCIS (Netherlands)

    Booij, T.H.; Klop, M.J.; Yan, K.; Szántai-Kis, C.; Szokol, B.; Orfi, L .; Water, van de B.; Keri, G.; Price, L.S.

    2016-01-01

    3D tissue cultures provide a more physiologically relevant context for the screening of compounds, compared with 2D cell cultures. Cells cultured in 3D hydrogels also show complex phenotypes, increasing the scope for phenotypic profiling. Here we describe a high-content screening platform that uses

  5. Development of a 3D Tissue Culture-Based High-Content Screening Platform That Uses Phenotypic Profiling to Discriminate Selective Inhibitors of Receptor Tyrosine Kinases.

    NARCIS (Netherlands)

    Booij, T.H.; Klop, M.J.; Yan, K.; Szántai-Kis, C.; Szokol, B.; Orfi, L .; Water, van de B.; Keri, G.; Price, L.S.

    2016-01-01

    3D tissue cultures provide a more physiologically relevant context for the screening of compounds, compared with 2D cell cultures. Cells cultured in 3D hydrogels also show complex phenotypes, increasing the scope for phenotypic profiling. Here we describe a high-content screening platform that uses

  6. Rapid reporting of urine culture results: impact of the uro-quick screening system.

    Science.gov (United States)

    Ilki, Arzu; Bekdemir, Pinar; Ulger, Nurver; Soyletir, Guner

    2010-04-01

    This study evaluated the impact of the Uro-Quick (UQ) screening system (Alifax, Italy) for a rapid and accurate reporting of urine cultures, and whether it can provide bacterial yield to be used in identification and susceptibility testing. A total of 1480 urine samples collected between October 2006 and July 2008 were tested by conventional culture (CC) methods and UQ simultaneously. Sediments of positive UQ vials were used as bacterial yields for identification and susceptibility testing procedures. Of the 1480 samples, 999 revealed bacteria and/or leukocytes in direct microscopy. Among these 999 samples, positive growth was detected in 420 (42%) and 433 (43.3%) by UQ and CC, respectively. However, only 0.6% of samples without bacteria and leukocytes exhibited positive growth. When compared to CC, UQ demonstrated high levels of positive predictive value (95.9%), negative predictive value (94.8%), sensitivity (93%) and specificity (96.9%). Both CC isolates and UQ bacteria showed 81.3% concordance in identification results. Susceptibility testing of UQ bacteria displayed >90% agreement, when compared with standardized disk diffusion test. Our results indicate that UQ can reliably be used in routine laboratories giving microbial growth results in 3 hours. The most significant part of the study is that bacterial yields of UQ positive samples can be used in identification and susceptibility testing, allowing a rapid, same-day reporting of urine cultures.

  7. Identification of neurotoxic cytokines by profiling Alzheimer's disease tissues and neuron culture viability screening.

    Science.gov (United States)

    Wood, Levi B; Winslow, Ashley R; Proctor, Elizabeth A; McGuone, Declan; Mordes, Daniel A; Frosch, Matthew P; Hyman, Bradley T; Lauffenburger, Douglas A; Haigis, Kevin M

    2015-11-13

    Alzheimer's disease (AD) therapeutics based on the amyloid hypothesis have shown minimal efficacy in patients, suggesting that the activity of amyloid beta (Aβ) represents only one aspect of AD pathogenesis. Since neuroinflammation is thought to play an important role in AD, we hypothesized that cytokines may play a direct role in promoting neuronal death. Here, we profiled cytokine expression in a small cohort of human AD and control brain tissues. We identified AD-associated cytokines using partial least squares regression to correlate cytokine expression with quantified pathologic disease state and then used neuron cultures to test whether cytokines up-regulated in AD tissues could affect neuronal viability. This analysis identified cytokines that were associated with the pathological severity. Of the top correlates, only TNF-α reduced viability in neuron culture when applied alone. VEGF also reduced viability when applied together with Aβ, which was surprising because VEGF has been viewed as a neuro-protective protein. We found that this synthetic pro-death effect of VEGF in the context of Aβ was commensurate with VEGFR-dependent changes in multiple signaling pathways that govern cell fate. Our findings suggest that profiling of tissues combined with a culture-based screening approach can successfully identify new mechanisms driving neuronal death.

  8. 血管前置的产前超声筛查与诊断%Prenatal ultrasound screening and diagnosis of vasa previa

    Institute of Scientific and Technical Information of China (English)

    李胜利; 陈秀兰; 文华轩

    2011-01-01

    血管前置是导致围产儿死亡的一个危险因素,经阴道分娩围产儿死亡率高.超声检查是产前诊断血管前置最可靠且简便、易推广的检查方法.当产前超声检查发现低置胎盘、双叶胎盘、副胎盘、多叶胎盘、多胎妊娠、帆状胎盘等高危发病因素时,需详细检查宫颈内口,常规的检查方法是经腹超声检查,当因胎先露阻挡等原因显示宫颈内口不满意时,需结合经会阴超声检查或经阴道超声检查;经阴道超声检查是该3种检查方法中最可靠的显示方法,但合并阴道活动性出血或宫颈机能不全时不宜使用.对于产前诊断血管前置的病例,建议于临产前行选择性剖宫产术.%Vasa previa is a dangerous factor which may result in fetal demise. Vaginal delivery may lead to high fetal mortality. Ultrasound is the most reliable, simple and generalized way for diagnosis of prenatal vasa previa. If the following high risk factors are detected by prenatal ultrasound, such as low lying placenta, bi-lobed placenta, succenturiate lobe, multi-lobed placenta, multiple pregnancy and velamentous insertion of the cord, the internal cervical os is necassary for examination. Transabdominal ultrasound is the routine way to observe the internal cervical os. But if internal cervical os is not satisfied to observe internal cervical os because of fetal presentation,transperineal or transvaginal ultrasound is recommended. Transvaginal ultrasound is the most reliable way. However, it is not recommended to perform once the mother is complicated with active bleeding or cervical incompetence. Elective caesarean section should be offered prior to the onset of labour for cases that have been diagnosed of prenatal vasa previa.

  9. 江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究%A study on population-based prenatal screening and diagnosis of Down's syndrome in Jiangsu province

    Institute of Scientific and Technical Information of China (English)

    刘启兰; 童建孙; 王兴海; 何竞; 胡娅莉; 许争峰; 王丽娟; 孙庆; 林宁; 徐晓燕; 刘艳; 张建伟

    2010-01-01

    目的 对江苏省中期妊娠孕妇的胎儿进行唐氏综合征筛查和诊断,减少21三体综合征患儿出生.方法 用分层和整群抽样相结合的多阶段抽样方法,对江苏省怀孕15~20周的26 803名妇女采用时间荧光分辨法进行母血清常规二联筛查,筛查出的高风险孕妇进行羊膜腔穿刺、细胞培养、染色体分析.出生儿童通过面访和外周血染色体培养确诊.结果 血清筛查和羊水染色体检查,确诊6例胎儿;出生儿童随访和外周血染色体分析确诊3例,共确诊9例唐氏综合征,产前筛查检出率为67%(6/9).结论 产前筛查和诊断可以减少唐氏综合征患儿出生,提高出生人口素质.但是应提高产前筛查的准确性,最大限度地降低假阴性,减少或杜绝漏诊发生.%Objective To screen and diagnose Down' s syndrome during mid-term pregnancy to reduce the number of babies with Down' s syndrome. Methods With the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and β-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses. Results Six fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9). Conclusion The prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.

  10. Cell culture monitoring for drug screening and cancer research: a transparent, microfluidic, multi-sensor microsystem.

    Science.gov (United States)

    Weltin, Andreas; Slotwinski, Kinga; Kieninger, Jochen; Moser, Isabella; Jobst, Gerhard; Wego, Marcus; Ehret, Ralf; Urban, Gerald A

    2014-01-07

    We present a novel, multiparametric microphysiometry system for the dynamic online monitoring of human cancer cell metabolism. The optically transparent, modular, hybrid microsystem is based on a glass chip and combines a cell cultivation chamber, microfluidics and metabolic monitoring with fully integrated chemo- and biosensors. pH and oxygen are measured in the cell culture area, and biosensors for lactate and glucose are connected downstream by microfluidics. The wafer-level fabrication features thin-film platinum and iridium oxide microelectrodes on a glass chip, microfluidics in an epoxy resist, a hybrid assembly and an on-chip reference electrode. The reliable analytical performance of the sensors in cell culture medium was demonstrated. The pH sensors exhibit a long-term stable, linear response. The oxygen sensors show a linear behaviour, which is also observed for low oxygen concentrations. Glucose and lactate measurements show a linear, long-term stable, selective and reversible behaviour in the desired range. T98G human brain cancer cells were cultivated and cell culture metabolism was measured on-chip. Stop/flow cycles were applied and extracellular acidification, respiration, glucose consumption and lactate production were quantified. Long-term metabolic rates were determined and all parameters could be measured in the outlet channel. A placement downstream of the cell cultivation area for biosensors was realised. A highly effective medium exchange and undiluted sampling from the cell culture chamber with low flow rates (2 μl min(-1)) and low volumes (15 μl per cycle) were achieved. The drug screening application was demonstrated by detecting alteration and recovery effects of cellular metabolism induced by the addition of substances to the medium.

  11. 胶原酶消化绒毛组织培养技术在产前诊断中的应用%The application of collagenase digestion for chorionic villus cell culture in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    刘天盛; 周元圆; 韦波; 费冬梅; 黄红倩; 欧珊; 郑陈光

    2013-01-01

    目的 探索建立一种稳定且培养成功率高,操作简便的产前绒毛染色体制备的方法,提高绒毛产前诊断的成功率.方法 181例进行产前诊断的绒毛组织分两组,采用胶原酶分别消化10min和15min,制备绒毛细胞悬液进行细胞培养、染色体核型分析.结果 181例绒毛组织培养成功179例,失败2例,培养成功率为98.90%,平均培养时间为10-12天;消化15min比消化10min细胞更容易贴壁,原代培养成功率更高.179例培养成功的绒毛组织检出异常核型14例,其中镶嵌型5例,检出染色体多态性15例.结论 采用胶原酶消化绒毛组织,可以提高细胞培养成功率,提高孕早期产前诊断的成功率,适合各级有条件的医疗保健机构推广应用.%Objective: To establish a method of prenatal chorionic villus samples chromosome preparation which is stable, higher success rate and easier to prepare, enhance the success rate of villus prenatal diagnosis. Methods; 181 cases of chorionic villus samples were divided into two groups, digested by collagense for 10 minutes and 15 minutes respectively, and the resulting individual cell suspension were used to establish primary cultures for cytogenetic analysis. Results; 179 of 181 cases were cultured successful and 2 of 181 cases failed. Culture success rate was 98. 9% , the average of culture time was 10 -12 days. Collagenase digestion for 15 minutes was superior to 10 minutes in adherent cultures, the success rate of primary culture was higher. 14 cases of chromosomes aberration and 15 cases of chromosome polymorphism were detected in 179 cases of successful culture, and 5 cases chromosome mosaicism of 14 cases chromosomes aberration. Conclusion; The application of collagenase digestion for the chorionic villus tissue could improve success rate of the chorionic villus cell culture and prenatal diagnosis in the first trimester, it was worth to be extend.

  12. A high-throughput cheese manufacturing model for effective cheese starter culture screening.

    Science.gov (United States)

    Bachmann, H; Kruijswijk, Z; Molenaar, D; Kleerebezem, M; van Hylckama Vlieg, J E T

    2009-12-01

    Cheese making is a process in which enzymatic coagulation of milk is followed by protein separation, carbohydrate removal, and an extended bacterial fermentation. The number of variables in this complex process that influence cheese quality is so large that the developments of new manufacturing protocols are cumbersome. To reduce screening costs, several models have been developed to miniaturize the cheese manufacturing process. However, these models are not able to accommodate the throughputs required for systematic screening programs. Here, we describe a protocol that allows the parallel manufacturing of approximately 600 cheeses in individual cheese vats each with individual process specifications. Protocols for the production of miniaturized Gouda- and Cheddar-type cheeses have been developed. Starting with as little as 1.7 mL of milk, miniature cheeses of about 170 mg can be produced and they closely resemble conventionally produced cheese in terms of acidification profiles, moisture and salt contents, proteolysis, flavor profiles, and microstructure. Flavor profiling of miniature cheeses manufactured with and without mixed-strain adjunct starter cultures allowed the distinguishing of the different cheeses. Moreover, single-strain adjunct starter cultures engineered to overexpress important flavor-related enzymes revealed effects similar to those described in industrial cheese. Benchmarking against industrial cheese produced from the same raw materials established a good correlation between their proteolytic degradation products and their flavor profiles. These miniature cheeses, referred to as microcheeses, open new possibilities to study many aspects of cheese production, which will not only accelerate product development but also allow a more systematic approach to investigate the complex biochemistry and microbiology of cheese making.

  13. 孕中期产前筛查母血清标志物中位数分析%Analysis on medians of serum markers in prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    樊国萍

    2012-01-01

    Objective: To analyze the results of serum markers in prenatal triple screening during the second trimester of pregnancy among normal pregnant women in the region, explore the applicability of medians embedded into current software used for Downs syndrome screening. Methods: Chemiluminescence was used to detect the levels of serum alpha — fetoprotein (AFP) , p — human chorionic gonadotro-pin ((3-HCG) , and free estriol in 2 384 pregnant women atl4-21+6 gestational weeks, the medians were determined according to gesta-tional age, then the results were compared with software embedded medians. Results; There was significant difference between the medians of serum markers of normal pregnant women in the region and software embedded medians (AFP; P 0.05) . Conclusion: The laboratories in different regions should establish their own criteria for medians of serum markers to improve the quality of prenatal screening.%目的:回顾性分析该地区正常孕妇孕中期母血清产前三联筛查结果,探讨目前采用的唐氏筛查软件内嵌中位数的适用性.方法:采用化学发光法对2 384例(14~21+6周)孕妇血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(β-HCG)和游离雌三醇(uE3)进行检测,分别按孕龄确定其中位数并与软件内嵌中位数进行比较.结果:该地区正常孕妇血清标志物的中位数与软件给定的中位数有差异(P值:AFP<0.05,uE3 <0.01,β-HCG>0.05).结论:各地区实验室应建立自己的中位数标准,从而提高产前筛查质量.

  14. 内蒙古地区孕中期产前筛查研究分析%ANALYSIS OF PRENATAL SCREENING OF MID PREGNANCY WOMEN IN INNER MONGOLIA REGION

    Institute of Scientific and Technical Information of China (English)

    武艾宁; 赵晓曦; 于荣鑫

    2016-01-01

    Objective:To discuss the positive rate of birth defects through the serological screening results of the pregnant metaphase women in our hospital,and provide prenatal intervention evidence for reducing birth defects. Methods:Full automatic time-resolved fluorescence immunoassay ( DELFIA ) was used in serum examination of mid pregnancy women, and using the Lifecycle risk assessment software to calculate the risk rate of 21-three body syndrome ( DS ) , 18-three body syndrome ( Edward) , neural tube defects ( NTD ) and other defects of fetus, ultrasound and amniotic fluid karyotype detection would be done in the pregnant women with high-risk for further diagnosis. Results:251 cases were detected with high-risk in 8100 cases,the positive rate was 3. 09%. 18 and 21-three body syndrome and NTD screening positive rate was 2 . 21% ( 179/8100 ) , 0 . 35% ( 28/8100 ) and 0. 54%(44/8100) respectively. Through the prenatal diagnosis,the results confirmed 21-three body syndrome in 3 cases,1 case of NTD,1 case of 13-three body syndrome and 1 case of inversion between the arms in 251 cases with high-risk. 1 case of DS was leakage screen after follow-up for low-risk pregnant women. Conclusion:21-three body syndrome(DS)has high incidence of birth defects,mid pregnancy prenatal serological screening is one of the important means to predict birth defects and has important clinical value to reduce birth defects.%目的::通过对我院孕中期孕妇的血清学筛查结果进行分析,探讨出生缺陷的阳性检出率特征,为最大限度降低出生缺陷率提供产前干预依据。方法:采用全自动时间分辨荧光免疫分析法( DELFIA)对孕中期孕妇血清进行三联筛查,利用美国Lifecycle风险评估软件计算21-三体综合征( Down`s sgndrome DS)、18-三体综合征( Edward)、神经管畸形( neural tube defects NTD)等缺陷在胎儿中的风险率,高风险者进一步行B超检查、羊水核型检测等方法进行

  15. Later Prenatal Checkups

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  16. Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  17. Prenatal ultrasound - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  18. BioSig3D: High Content Screening of Three-Dimensional Cell Culture Models.

    Directory of Open Access Journals (Sweden)

    Cemal Cagatay Bilgin

    Full Text Available BioSig3D is a computational platform for high-content screening of three-dimensional (3D cell culture models that are imaged in full 3D volume. It provides an end-to-end solution for designing high content screening assays, based on colony organization that is derived from segmentation of nuclei in each colony. BioSig3D also enables visualization of raw and processed 3D volumetric data for quality control, and integrates advanced bioinformatics analysis. The system consists of multiple computational and annotation modules that are coupled together with a strong use of controlled vocabularies to reduce ambiguities between different users. It is a web-based system that allows users to: design an experiment by defining experimental variables, upload a large set of volumetric images into the system, analyze and visualize the dataset, and either display computed indices as a heatmap, or phenotypic subtypes for heterogeneity analysis, or download computed indices for statistical analysis or integrative biology. BioSig3D has been used to profile baseline colony formations with two experiments: (i morphogenesis of a panel of human mammary epithelial cell lines (HMEC, and (ii heterogeneity in colony formation using an immortalized non-transformed cell line. These experiments reveal intrinsic growth properties of well-characterized cell lines that are routinely used for biological studies. BioSig3D is being released with seed datasets and video-based documentation.

  19. Adapting the South Oaks Gambling Screen for use in the Slovenian cultural environment

    Directory of Open Access Journals (Sweden)

    Andreja Cvenkelj

    2010-05-01

    Full Text Available South Oaks Gambling Screen (Lesieur in Blume, 1987 is the most frequently used for screening of pathological gambling. The main purpose of this study was to adapt the SOGS for application in the Slovenian cultural environment and to assess its metric characteristics.The study involved 121 subjects, 21 of which were diagnosed as pathological gamblers. Comparison group was composed of 100 subjects. Factor analysis resulted in a one-dimensional solution accounting for 66% of the total variance. Statistically significant differences in the scores show that the SOGS is able to discriminate between the comparison group and pathological gamblers. Item analysis shows that all of them appropriately discriminate between pathological gamblers and comparison group. The internal consistency of the 20-item scale was .971. The criterion validity of the Slovenian version of the SOGS was investigated by cross-comparing the patients' actual diagnoses of pathological gambling with the same diagnoses based on the SOGS scores. The score of 5 points was used as a cut-off point, since it discriminates the most. There was a perfect agreement between diagnoses of pathological gambling and diagnoses based on the SOGS scores.

  20. BioSig3D: High Content Screening of Three-Dimensional Cell Culture Models.

    Science.gov (United States)

    Bilgin, Cemal Cagatay; Fontenay, Gerald; Cheng, Qingsu; Chang, Hang; Han, Ju; Parvin, Bahram

    2016-01-01

    BioSig3D is a computational platform for high-content screening of three-dimensional (3D) cell culture models that are imaged in full 3D volume. It provides an end-to-end solution for designing high content screening assays, based on colony organization that is derived from segmentation of nuclei in each colony. BioSig3D also enables visualization of raw and processed 3D volumetric data for quality control, and integrates advanced bioinformatics analysis. The system consists of multiple computational and annotation modules that are coupled together with a strong use of controlled vocabularies to reduce ambiguities between different users. It is a web-based system that allows users to: design an experiment by defining experimental variables, upload a large set of volumetric images into the system, analyze and visualize the dataset, and either display computed indices as a heatmap, or phenotypic subtypes for heterogeneity analysis, or download computed indices for statistical analysis or integrative biology. BioSig3D has been used to profile baseline colony formations with two experiments: (i) morphogenesis of a panel of human mammary epithelial cell lines (HMEC), and (ii) heterogeneity in colony formation using an immortalized non-transformed cell line. These experiments reveal intrinsic growth properties of well-characterized cell lines that are routinely used for biological studies. BioSig3D is being released with seed datasets and video-based documentation.

  1. Application of non-invasive prenatal DNA test in screening of Down's syndrome%无创 DNA产前检测技术在诊断胎儿唐氏综合征中的应用

    Institute of Scientific and Technical Information of China (English)

    王艳; 窦肇华; 蒋智; 王大伟; 侯朝辉; 于剑飞; 刘建; 曹志生; 夏超群; 张晋玚; 商微

    2014-01-01

    Objective:To explore application value of non-invasive prenatal test in screening of Down ' s syndrome through using high-throughput sequencing technique to test fetal free DNA in maternal Peripheral blood. Methods:A total of 115 cases with singleton pregnancies, whose fetuses were at high risk of Down's syndrome by prenatal serological and B ultrasound screening, were se-lected. Their plasma was sampled for the non-invasive prenatal DNA test, and amniotic fluid was also collected for the chromosome karyotype analysis, wherein the result of the latter was used as a "gold standard". The results of the non-invasive prenatal DNA test and the chromosome karyotype analysis were compared and analyzed. The percentage of fetal DNA in the total maternal circulating DNA was inferred by calculating the number of reads mapped to Y chromosome. Results: In the 115 cases, there were 15 cases judged as high-risk Down's syndrome for their fetuses and 100 cases judged as low-risk Down's syndrome for their fetuses through the non-inva-sive prenatal DNA tes;and in the 100 cases, their G band karyotypes were all normal, however, in the 15 case, 14 cases were finally diagnosed as Down's syndrome through the chromosome karyotype analysis. Conclusions:The new non-invasive prenatal DNA test for Down's syndrome has the same sensitivity and specificity with the chromosome karyotype analysis of the aminotic cells; it has the ad-vantages of safety, non-invasion, and high throughput, therefore, it has a wider clinical application value. However, a further amnio-centesis confirmation is definitely required for the high-risk case identified by the non-invasive prenatal test.%目的:利用高通量测序技术检测孕妇外周血中的胎儿游离 DNA,探讨唐氏综合征无创产前检测的应用价值。方法:选择唐氏综合征高风险而进行确定诊断的单胎孕妇115例,用孕妇血浆进行无创DNA产前检测。同时,采集羊水,进行染色体核

  2. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用%Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

    Institute of Scientific and Technical Information of China (English)

    钟萍; 林毅; 田葆东

    2011-01-01

    Objective;To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome. Methods:①78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up (Group A).②56 pregnant women with abnormal fetal ultrasound findings (Group B) and, 134 pregnant women with high risk of edwards syndrome/ patau syndrome by prenatal serological screening (Group C) were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks. Results;In high risk of 18 trisomy by serological screening, 2 cases with abnormal ultrasound findings terminated the pregnancy, 1 newborn had congenital heart disease after birth in group A. In group B, 3 cases were with 18 trisomy, 3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21 % (13/56) .Among them, 2 cases with 18 trisomy complicated with high risk of serological screening. In group C, 4 cases were with fetal abnormality, among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was2.99%(4/134).Conclusions:It is an effective method to detect 18, 13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.%目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性.方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察.②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18 ~32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析.结果:A组的18三体筛查高风险孕妇有2例出现B超检

  3. Chemoecological Screening Reveals High Bioactivity in Diverse Culturable Portuguese Marine Cyanobacteria

    Directory of Open Access Journals (Sweden)

    Vitor M. Vasconcelos

    2013-04-01

    Full Text Available Marine cyanobacteria, notably those from tropical regions, are a rich source of bioactive secondary metabolites. Tropical marine cyanobacteria often grow to high densities in the environment, allowing direct isolation of many secondary metabolites from field-collected material. However, in temperate environments culturing is usually required to produce enough biomass for investigations of their chemical constituents. In this work, we cultured a selection of novel and diverse cyanobacteria isolated from the Portuguese coast, and tested their organic extracts in a series of ecologically-relevant bioassays. The majority of the extracts showed activity in at least one of the bioassays, all of which were run in very small scale. Phylogenetically related isolates exhibited different activity profiles, highlighting the value of microdiversity for bioprospection studies. Furthermore, LC-MS analyses of selected active extracts suggested the presence of previously unidentified secondary metabolites. Overall, the screening strategy employed here, in which previously untapped cyanobacterial diversity was combined with multiple bioassays, proved to be a successful strategy and allowed the selection of several strains for further investigations based on their bioactivity profiles.

  4. Chemoecological screening reveals high bioactivity in diverse culturable Portuguese marine cyanobacteria.

    Science.gov (United States)

    Leão, Pedro N; Ramos, Vitor; Gonçalves, Patrício B; Viana, Flávia; Lage, Olga M; Gerwick, William H; Vasconcelos, Vitor M

    2013-04-22

    Marine cyanobacteria, notably those from tropical regions, are a rich source of bioactive secondary metabolites. Tropical marine cyanobacteria often grow to high densities in the environment, allowing direct isolation of many secondary metabolites from field-collected material. However, in temperate environments culturing is usually required to produce enough biomass for investigations of their chemical constituents. In this work, we cultured a selection of novel and diverse cyanobacteria isolated from the Portuguese coast, and tested their organic extracts in a series of ecologically-relevant bioassays. The majority of the extracts showed activity in at least one of the bioassays, all of which were run in very small scale. Phylogenetically related isolates exhibited different activity profiles, highlighting the value of microdiversity for bioprospection studies. Furthermore, LC-MS analyses of selected active extracts suggested the presence of previously unidentified secondary metabolites. Overall, the screening strategy employed here, in which previously untapped cyanobacterial diversity was combined with multiple bioassays, proved to be a successful strategy and allowed the selection of several strains for further investigations based on their bioactivity profiles.

  5. 1560例孕中期妇女血清学产前筛查结果分析%Analysis on the maternal serum prenatal screening results of 1560 pregnant women during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    涂志华; 黄慈丹; 杨春; 朱晓妹; 周小婉; 王洁

    2013-01-01

    目的 探讨孕中期妇女血清学产前筛查唐氏综合征、18-三体综合征、开放性神经管畸形筛查结果的特点,为临床服务提供参考数据.方法 采用时间分辨免疫荧光法检测孕中期妇女血清uE3、游离-hCG、AFP含量,结合孕妇年龄、体重等信息,通过Lifecycle3.2软件评估胎儿唐氏综合征、18-三体综合征、开放性神经管畸形高危与否.孕妇产后两个月内回访妊娠结局.结果 唐氏综合征高风险阳性率为5.32%,1例高风险阳性确诊唐氏综合征;18-三体综合征高风险阳性率为0.90%;开放性神经管畸形高风险阳性率为0.64%.唐氏综合征高风险阳性率海南省妇幼保健院与合作医院比较,差异有统计学意义(x2=4.72,P< 0.05),35岁及以上组孕妇高于35岁以下组,两者差异有显著统计学意义(x2=70.63,P<0.01),35岁以下组高风险阳性率也达3.71%.结论 多单位协作进行产前筛查时,应重视标本采集、运送等规范操作;每个年龄段的孕妇均应重视产前筛查.%Objective To investigate the characteristics of prenatal screening results for Down's syn drome (DS), Edward's syndrome (ES) and open neural tube defects (ONTD), and to provide reference for clin ical service. Methods Time-resolved fluoroimmunoassay was used to detect the count of uE3, free-β-hCG, AFP in serum of pregnant women during the second trimester. The software Lifecycle3.2 was used to calculate the risk values of DS, ES, ONTD by importing the data of uE3, free-β-hCG, AFP, age, body weight, et al. The pregrant women were followed up 2 months after postpartum for pregnancy outcome. Results The positive rate of the high risk DS was 5.32%. One case of the high risk DS was diagnosed definitely. The positive rate of high risk ES was 0.90%, and the positive rate of high risk ONTD was 0.64%. The positive rates of high risk DS of Hainan Provincial Maternity and Child Health Hospital and cooperation hospitals were

  6. Analysis of prenatal screening results in 10 877 cases of pregnancy in Yanbian area%延边地区10877例孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    太莲淑

    2016-01-01

    目的:探讨延边地区2012年10月~2014年9月期间的孕中期产前筛查在临床中的应用。方法:采用时间分辨荧光免疫分析法测定孕中期母血清中甲胎蛋白(AFP)、游离β人绒毛膜促性腺激素(free β-HCG)以及游离雌三醇(uE3)浓度,结合孕妇年龄、孕周及体重等因素,经配套的风险评估软件RISK-2T进行风险评估。结果:10877例孕妇共筛查出高风险449例,其中21-三体375例,18-三体23例,NTD 51例,高风险孕妇经医生产前咨询进行进一步产前诊断人数有251例,经上一级医院染色体核型分析的产前诊断确诊为真阳性数为15例,其中21-三体8例、18-三体4例,NTD高风险经B超诊断确诊3例。结论:孕中期产前筛查作为一种无创性检测手段,可以大大降低出生缺陷的发生。%Objective To study the application of prenatal screening in the mid-pregnancy which between October 2012 to September 2014 in Yanbian.Method Using the Time resolved fluoresecence immunoassay (TRFIA)determined the concentration of AFP、free β-HCG、uE3 in the mid-pregnancy.Combine the pregnant age、weight and other facts,assess the risks with RISK-2T software.Results 449 cases of high risks from 10 877 pregnancies which include 375 cases of Trisomy-21,23 cases of Tri-somy-18,51 cases of NTD,were screened out 251 cases of further prenatal diagnosis,15 cases of confirmed positive test result in Karyotype analysis.There were 8 cases of Trisomy-21、4 cases of Trisomy-18、3 cases of NTD among the positive cases in Kary-otype.Conclusion Prenatal screening in the mid-pregnancy is harmless and plays an objective role in reducing birth defects.

  7. 四川地区2007~2009年孕妇产前筛查情况分析%ANALYSIS OF PRENATAL SCREENING SITUATION IN SICHUAN AREA FROM 2007 TO 2009

    Institute of Scientific and Technical Information of China (English)

    龚云辉; 邱东生; 王和; 周容; 张迅; 李天伦; 袁粒星; 何斌; 韩代文; 唐君; 邹粉娥

    2012-01-01

    [目的]了解四川地区产前筛查的现状.[方法]在孕中期(孕15-20周)采血检测孕妇血清中甲胎蛋白(AFP)、人游离β-绒毛膜促性腺激素(f-βhCG)和游离雌三醇(μE3)(我觉得我们医院也一起用了游离雌三醇,我明天上门诊时看一下报告单)值,检测结果结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病及吸烟史等因素,利用风险评估软件计算21-三体、18-三体综合征和开放性神经管缺陷的风险概率.[结果]3年间四川地区孕妇总产前筛查率为5.08%,高危孕妇和低危孕妇的总筛查阳性率分别为23.68%和8.59%.21-三体、18-三体、开放性神经营缺陷在高危孕妇中的筛查阳性率分别为21.46%、0.96%、1.26%,在低危孕妇中分别为7.34%、0.13%、1.11%.[结论]产前筛查作为先天畸形的二级干预措施,在降低先天畸形发生方面有重要作用,但目前四川地区的产前筛查率仍较低,需进一步普及.%[Objective] To analyses the prenatal screening situation in Sichuan area. [Methods] The concentrations of AFP, free phCG and μE3 in the serum of mid-trimester (15-20 weeks pregnancy) pregnant women were tested. The risk of Down syndrome, Trisomy 18 and Nervous tube defect were evaluated by using the risk evaluation software. [Results] In the three years, the total rate of prenatal screening was 5.08%. Among the high risk and low risk pregnant women, the total positive rale was 23.68% and 8.59%, respectively. In the high risk group, the positive rate of Down syndrome, Trisomy 18 and Nervous lube defect were 21.46%, 0.96% and 1.26%, respectively; In the low risk group, they were 7.34%, 0.13% and 1.11%, re-spectively. [Conclusion] As the second level intervention measure of birth defect, prenatal screening played an important role in decreasing Jurth defect rate, but it should be further popularized.

  8. 毛细管电泳在产前诊断地中海贫血中的应用%DIAGNOSTIC UTILITY OF CAPILLARY ELECTROPHORESIS IN PRENATAL DIAGNOSIS SCREENING FOR THALASSEMIA

    Institute of Scientific and Technical Information of China (English)

    郭浩; 郭莉; 唐斌; 陈汉彪; 杜丽; 王奕霞

    2015-01-01

    Objective To study the diagnostic utility of capillary electrophoresis in prenatal diagnosis screening for thalassemia .Methods Between January 2013 and June 2014, 286 pregnant women were recruited who attended the prenatal diagnosis screening for thalassemia with hemoglobin electrophoresis and genetic testing at third term.Results With the genetic testing , 83 cases were normal;21 cases were homozygous α-thalassemia;13 cases wereα-thalassemia intermedia;86 cases were mildα-thalassemia;11 cases were'silent'α-thalassemia.Besides, 15 cases were homozygous β-thalassemia;51 cases were heterozygotes β-thalassemia;6 cases were compound het-erozygotes mutation of the αand β-globin chain gene .The results showed that increased Hb Bart's level or the pro-portion of Hb A in fetuses could be induced by the severity of thalassemia .Conclusion Capillary electrophoresis was definitely helpful in prenatal diagnosis screening for thalassemia at the third term .%目的:探讨毛细管电泳技术在产前诊断地中海贫血中的应用价值。方法2013年1月~2014年6月期间在本院因夫妇双方为同型地中海贫血为产前诊断指征且孕周为24~34周的就诊病例286例。对脐带穿刺后获取的脐血标本进行血红蛋白毛细管电泳和地中海贫血基因诊断。结果286例标本中,正常83例,巴氏水肿胎21例, Hb H 13例,轻型α-地贫86例,静止型α-地贫11例,重型β-地贫15例,轻型β-地贫51例,α复合β-地贫6例。脐血血红蛋白组成分析显示α-地贫胎儿脐血Hb Bart ’ s百分含量随受累α-珠蛋白基因个数的增加而增多,β-地贫胎儿脐血Hb A百分含量随受累β-珠蛋白基因个数的增加而减少。结论毛细管电泳能辅助诊断孕晚期胎儿α地中海贫血及β地中海贫血。

  9. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    Science.gov (United States)

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  10. Testing the Feasibility of a Culturally Tailored Breast Cancer Screening Intervention with Native Hawaiian Women in Rural Churches

    Science.gov (United States)

    Ka'opua, Lana Sue I.; Park, Soon H.; Ward, Margaret E.; Braun, Kathryn L.

    2011-01-01

    The authors report on the feasibility of delivering a church-based breast cancer screening intervention tailored on the cultural strengths of rural-dwelling Hawaiians. Native Hawaiian women are burdened by disproportionately high mortality from breast cancer, which is attributed to low participation in routine mammography. Mammography is proven to…

  11. Cultural tailoring for the promotion of Hepatitis B screening in Turkish Dutch: A protocol for a randomized controlled trial

    NARCIS (Netherlands)

    O. de Zwart (Onno); J.P. Mackenbach (Johan); J.H. Richardus (Jan Hendrik); Y.J.J. van der Veen (Ytje)

    2010-01-01

    textabstractBackground. Chronic hepatitis B virus infection (HBV) is an important health problem in the Turkish community in the Netherlands, and promotion of screening for HBV in this risk group is necessary. An individually tailored intervention and a culturally tailored intervention have been dev

  12. Breast Cancer Screening among Dominican Latinas: A Closer Look at Fatalism and Other Social and Cultural Factors

    Science.gov (United States)

    Abraído-Lanza, Ana F.; Martins, Mariana Cunha; Shelton, Rachel C.; Flórez, Karen R.

    2015-01-01

    With the marked increase of the Latino population in the United States during the past 20 years, there has been growing interest in the social, cultural, and structural factors that may impede breast cancer screening among Latino women, especially among those subgroups that have been understudied. Acculturation and fatalism are central cultural…

  13. Breast Cancer Screening among Dominican Latinas: A Closer Look at Fatalism and Other Social and Cultural Factors

    Science.gov (United States)

    Abraído-Lanza, Ana F.; Martins, Mariana Cunha; Shelton, Rachel C.; Flórez, Karen R.

    2015-01-01

    With the marked increase of the Latino population in the United States during the past 20 years, there has been growing interest in the social, cultural, and structural factors that may impede breast cancer screening among Latino women, especially among those subgroups that have been understudied. Acculturation and fatalism are central cultural…

  14. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    Directory of Open Access Journals (Sweden)

    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  15. A follow-up analysis of prenatal screening in 3651 cases on middle period pregnancy%3651例孕中期产前筛查孕妇随访结果分析

    Institute of Scientific and Technical Information of China (English)

    姚爱玲; 陈艳玲; 马爱军

    2011-01-01

    Objective: To explore the clinical application and value in prenatal screening of Down's syndrome and open nervous tube defect on middle period pregnancy.Methods: Serum samples were collected from 3651 pregnant women on middle period pregnancy (15 -20 +6 week) and free-β-human chorionic gonadot ropin (free-β-hCG) and alphafetoprotein (AFP) level were determined by time-resolved fluoroimmunoassay (TR-FIA, or DELFIA) method.Risk2T was used to calculate the risk rate of Down's syndrome (DS), 13/18 trisomy syndrome and open nervous tube defect (ONTD).Results: The calculated results show that 241, 20 and 30 cases were with high risk of DS, 13/18 trisomy syndrome and ONTD in 3651 test samples, respetively.After - birth visit on the highrisk pregnant women indicated that 5 births suffered DS, no birth suffered 13/18 trisomy syndrome and 2 births suffered ONTD.Among 3390 low-risk cases of DS, there was also one birth suffered DS.Conclusion: The results in this paper indicate that prenatal screening of middle period serum of pregnant women can reduce the risk of birth defects incidence.%目的 孕中期产前筛查在临床中的应用和意义.方法 应用时间分辨法,以血清AFP、free-β-HCG作为指标,对3651例孕15周~20周+6孕妇进行血清学产前筛查,Risk2T软件计算风险值.结果 检出唐氏综合征高危孕妇241例,随访发现5例唐氏综合症患儿,低危孕妇3390例,随访发现1例唐氏综合症患儿;检出13/18三体高危孕妇20例,随访未发现患儿;检出开放性神经管缺陷高危孕妇30例,随访发现2例无脑儿.结论 孕中期产前筛查可降低出生缺陷的发生.

  16. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    Science.gov (United States)

    Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B

    2014-10-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., et al., the US Supreme Court ruled that genes are natural occurring substances and therefore not patentable through 'composition of matter' claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies.

  17. Application of Color Doppler Ultrasonography in the Prenatal Screening of Non-High Risk Fetus%彩色多普勒超声在非高危胎儿产前心脏筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    王婷

    2016-01-01

    目的:探究彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值,通过胎儿产前心脏筛查以降低先天性心脏病患儿的出生率及死亡率。方法选取我院2013年12月~2015年12月收治的2352例处于孕20~24周的非高危胎儿作为实验组,同时选取同期341例高危胎儿作为对照组。这2693例均实施彩色多普勒超声检查,并对所有胎儿进行随访并随访至明确诊断,比较两组胎儿心脏畸形发生率以及非高危胎儿的畸形敏感性、特异性。结果实验组非高危胎儿心脏畸形的发生率低于对照组高危胎儿,差异有统计学意义(P<0.05)。非高危胎儿产前经彩色多普勒超声检查,其心脏畸形筛查的准确率为92.44%。四腔心和左、右室流出道切面筛查胎儿心脏崎形的特异性、敏感性分别为91.32%、99.9%。结论彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值较高,其诊断的特异度以及敏感度均较高。%Objective To explore the application value of color Doppler ultrasonography in the prenatal screening of non high risk fetus, birth rate and death rate in children with congenital heart disease by screening of fetal heart.Methods In our hospital from December 2013 to December 2015, 2 352 cases of non high risk fetus in 20 to 24 weeks of pregnancy were selected as experimental group, at the same time, 341 high-risk fetuses were selected as control group at the same time. All the 2 693 cases were examined by color Doppler ultrasound, and all the fetuses were followed up for deifnite diagnosis, the incidence rate of fetal heart rate and the abnormal sensitivity and specificity of the non - high risk fetus were compared between the two groups.ResultsIn the experimental group, the incidence rate of non high risk fetal heart malformation was lower than that of the control group, the difference was statistically signiifcant (P<0.05). The rate of screening for non

  18. 超声在21-三体综合征产前筛查中的应用分析%Aanalysis of prenatal ultrasonography in screening for fetal trisomy 21

    Institute of Scientific and Technical Information of China (English)

    韩璐; 荆春丽; 王彦; 冯丽云; 顾颜

    2016-01-01

    目的 探讨超声在21-三体综合征产前筛查中的应用价值.方法 2009年1月至2014年6月在大连市妇幼保健院被确诊为21-三体综合征的胎儿共77例,其中55例行超声筛查,分析其超声表现与21-三体综合征的关系.结果 55例接受产前超声筛查的21-三体综合征病例中,10例进行了孕早期超声筛查,8例(80%)发现异常;45例进行了孕中晚期超声筛查,37例(82.2%)发现超声异常.孕早期常见的异常为NT增厚(80%)、鼻骨缺失(40%)和静脉导管α波倒置(30%).孕中晚期常见的软指标异常为鼻骨缺失或发育不良(40.0%)、颈后皮肤皱褶增厚(26.7%)、肱骨或股骨短(17.8%)等;胎儿结构畸形主要为心血管畸形(33.3%)和十二指肠闭锁(13.3%)等.此外,21-三体综合征胎儿中晚期超声还可表现为羊水多(17.8%)和脐动脉血流异常(8.9%).结论 超声在21-三体综合征产前筛查中具有重要作用.%Objective:To investigate the clinical value of ultrasound in screening for fetal trisomy 21.Methods:From Jan.2009 to Jun.2014,77 fetuses was diagnosed as trisomy 21 in the Dalian Matemal and Child Health Hospital.In all cases,55 cases underwent prenatal ultrasound screening.The relationship between trisomy 21 and ultrasonic manifestations was analyzed.Results:In the 55 cases,10 cases were screened in early pregnancy.Sonographic anomalies were detected in 8 feruses (80%),including thickened nuehal translucency (80%),nasal bone hypoplasia (40%),reverse of a-wave of ductus venosus (30%) and so on.45 cases were screened in middle and late pregnancy.Sonographic anomalies were detected in 37 feruses (82.2%).The most common ultrasound markers were nasal bone hypoplasia (40%),thickened nuchal fold (26.7%) and short femurs and humerus (17.8%),the common structural malformations include cardiac defects (33.3%) and digestive system (13.3%).Furthermore,much amniotic fluid (17.8%) and abnormal umbilical artery

  19. German Translation and Cross-Cultural Adaptation of the STarT Back Screening Tool.

    Directory of Open Access Journals (Sweden)

    Bernhard Aebischer

    Full Text Available Although evidence based treatment approaches for acute low back pain are available, the prevention of persistent disabling symptoms remains a challenge. Subgroup targeted treatment using adequate screening tools may be a key component for the development of new treatment concepts and is demonstrating promising early evidence. The Keele STarT Back Screening Tool is a practical instrument, developed to stratify patients with back pain according to their risk of persistent disabling symptoms. The aim of this study was to translate and cross-culturally adapt the STarT tool into German (STarT-G and to investigate its psychometric properties.The translation was performed according to internationally accepted guidelines and pretested to assess face validity among patients. Psychometric testing was then performed within a cross-sectional cohort of adult patients attending physiotherapy practices for back pain. Patients completed a booklet containing STarT-G and 5 reference standard questionnaires. Measurement properties of the STarT-G were explored including construct validity, floor and ceiling effects, and discriminative abilities.The pretests (n=25 showed good face validity including strong comprehension and acceptability of the STarT-G with only item 5 (fear avoidance manifesting some ambiguities. The questionnaires were sent to 74 and completed by 50 patients (68% of whom mean age was 46 (SD 14.5 years and 52% were male. Spearman's rank correlations for construct validity ranged from 0.35 to 0.56. AUCs for discriminative ability ranged from 0.79 to 0.91. Neither floor nor ceiling effects were observed. There were 28 (57% participants defined as low risk, 17 (35% as medium risk, and 4 (8% as high risk.STarT-G is linguistically valid for German speaking countries. For the selected population, the correlations indicate acceptable validity and AUC showed satisfying discrimination. Data for psychometric properties have to be confirmed in a large scale

  20. 某市孕中期产前筛查诊断结果分析%Analysis on the prenatal screening and diagnosis in the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    张传英; 赵咏梅; 孟君

    2014-01-01

    Objective To investigate the clinical application value of prenatal screening and diagnosis in the second trimester of pregnancy .Methods Pregnant women whose ages were less than 35 years old ,were detected with serum alpha-fetoprotein(AFP) ,human chorionic fluid(free-β-HCG) and free three female alcohol(Ue3) by using luminescence analysis system in the mid-gestation .According to detection result ,we made use of software system to compute risk value of Down′s syndrome ,Edward syndrome and neural tube defect .Once the high-risk pregnant women were found out ,we preceded prenatal diagnosis on them by means of amniotic fluid puncture .And for the pregnant women with the age over 35 or having indication were directly carried on amniotic fluid puncture prenatal diagnosis after Informed Consent .Results There were 145 cases to be at high risk among pregnant women with ages under 35 ,and the screening positive rate was 6 .8% .Among 124 cases which took amniotic fluid chromosome exami-nation ,1 cases of Down′s syndrome ,1 cases of Edwards′s syndrome and 3 cases of the other chromosome abnormality were found out respectively .In addition ,there were 8 cases of chromosome abnormality were diagnosis among the pregnant women with the age over 35 or having indication of amniotic fluid puncture .Conclusion The mid-gestation prenatal test abnormal rate is higher among pregnant women with age less than 35 years old in Suining ,and it is very important to perform mid-gestation prenatal screening in order to prevent and reduce born defects .%目的:通过对孕中期孕妇进行产前筛查及产前诊断,探讨其临床应用价值。方法对于35岁以下的孕妇,采用化学发光分析系统,测定孕中期(15~20+6周)血清中甲胎蛋白(A FP )、游离β人绒毛膜促性腺激素(Freeβ-HCG)及游离雌三醇(uE3)的浓度。采用配套风险评估软件计算出唐氏综合征(21-三体)、爱德华综合征(18-三体综合征

  1. 广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立%Establishment of the system of prenatal screening and prenatal diagnosis of thalassemia in Dongguan city

    Institute of Scientific and Technical Information of China (English)

    姚倩瑜; 李铭臻; 邱建国; 莫清萍; 钟鸣

    2013-01-01

    avoided by screening the incidence and types of genicmutations.Thus setting up the system of prenatal screening-prenatal diagnosis-selective abortion is effective to avoid the birth of neonates.And it is vital to improve the quality of human being.

  2. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  3. Screening and characterization of Isochrysis strains and optimization of culture conditions for docosahexaenoic acid production.

    Science.gov (United States)

    Liu, Jin; Sommerfeld, Milton; Hu, Qiang

    2013-06-01

    Isochrysis is a genus of marine unicellular microalgae that produces docosahexaenoic acid (DHA, C22:6), a very long chain polyunsaturated fatty acid (PUFA) of significant health and nutritional value. Mass cultivation of Isochrysis for DHA production for human consumption has not been established due to disappointing low DHA productivity obtained from commonly used Isochrysis strains. In this study, 19 natural Isochrysis strains were screened for DHA yields and the results showed that the cellular DHA content ranged from 6.8 to 17.0 % of total fatty acids with the highest DHA content occurring in the exponential growth phase. Isochrysis galbana #153180 exhibited the greatest DHA production potential and was selected for further investigation. The effects of different light intensities, forms, and concentrations of nitrogen, phosphorus, and salinity on growth and DHA production of I. galbana #153180 were studied in a bubble column photobioreactor (PBR). Under favorable culture conditions, I. galbana #153180 contained DHA up to 17.5 % of total fatty acids or 1.7 % of cell dry weight. I. galbana #153180 was further tested in outdoor flat-plate PBRs varying in light path length, starting cell density (SCD), and culture mode (batch versus semicontinuous). When optimized, record high biomass and DHA productivity of I. galbana #153180 of 0.72 g L(-1) day(-1) and 13.6 mg L(-1) day(-1), or 26.4 g m(-2) day(-1) and 547.7 mg m(-2) day(-1), respectively, were obtained, suggesting that I. galbana #153180 may be a desirable strain for commercial production of DHA.

  4. Update on prenatal care.

    Science.gov (United States)

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation.

  5. Informed Consent - Attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

      Background:Prenatal screening has become an ever increasing part of antenatal care in the western part of the world. Providing women with information enabling an informed consent to prenatal examinations has been widely recommended, with women accepting or declining the screening tests offered...... in full understanding of pros and contra.Objective and hypothesis:To summarize current knowledge of women's expectations and attitudes concerning prenatal examinations as well as the amount of knowledge possessed by pregnant women undergoing prenatal examinations. Reasons for accepting or declining...... a screening test offered, as well as the influence of information in the decision-making process is also explored. Methods:The review is based on systematic search strategy in the electronic databases Medline and Science Citation. Additional studies were identified through reference lists of individual papers...

  6. HbH病产前筛查与妊娠结局的影响因素研究%The study on the factors of missed prenatal screening on thalassemia.

    Institute of Scientific and Technical Information of China (English)

    胡华; 包碧惠; 姚宏; 徐刚; 胡斌; 梁志清

    2011-01-01

    目的 探讨HbH病产前筛查和妊娠结局的影响因素.方法 通过MCV、MCH、MCHC、Hb、家族史等指标收集2007年至2011年孕前或产前筛查为地中海贫血的高危女性,并通过地中海贫血基α因检测,确诊夫妻双方均为α-地中海贫血携带者的产前诊断病例,进行羊水α和β地中海贫血基因检测,或脐带血进行血常规、血红蛋白电泳、基因检测,同时在孕中期进行胎儿系统彩超及超声心动图检查,将正常胎儿和重症地中海贫血胎儿彩超检查结果比较,最终进行胎儿地中海贫血的产前诊断.结果 通过上述指标筛查出HbH病高危孕妇病例35例,通过产前诊断确诊胎儿为重度地中海贫血病例11例,确诊为携带者病例13例,确诊为完全正常者病例11例,重度地中海贫血胎儿可出现心胸比例增大、胎盘厚度、腹水等溶血性贫血症状.对所有产前筛查孕妇病例进行随访,无漏诊病例.结论 基因检测和B超协助筛查可尽可能的避免HbH病的漏诊,HbH病胎儿的妊娠结局与地中海贫血基因型、父母选择、胎次等因素有着密切关系.%Objective; To study the prenatal diagnosis and missed diagnosis on thalassemia. Methods; Collect the pregnancy women of high risk through the MCV, MCH, MCHC, Hb and family history from 2007 to 2011. Then through the gene detection the couple who were both carriers of thalassemia was screened and diagnosised by amniotic fluid and cord blood. During the middle preg-nancy check the ultrasound and echocardiography. Compare the Bart thalassemia fetal with normal on cardiothoracic ratio, placental thickness, pericardial effusion, pleural effusion, ascites, subcutaneous edema, cord edema. Results; Through above index 2050 preg-nancy women of high risk were screened. There were 35 cases which the couple was both thalassemia carriers. They were prenatal diag-nosised in which there were 11 heavy thalassemia, 13 thalassemia carrier and 11 normal. Bart

  7. Study on prenatal screening of birth defect and fetal chromosomal abnormality%产前筛查先天性缺陷与胎儿染色体异常的研究

    Institute of Scientific and Technical Information of China (English)

    钟可文; 陈朝轩; 潘景良; 张应华

    2011-01-01

    Objective; To explore the junction and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods; The serum levels of alpha fetal protein ( AFT), β - human chorionic gonadotropin ( β - HCC) and unconjugated eslriol among 2 555 pregnant women during the second trimester of pregnancy (14-22 gestation-al weeks) were detected, then risk probability was calculated combining maternal age, gestational weeks, body weight, twin pregnancy or not, diabetes mellitus or not on software; the high risk pregnant women were defined by chromosomal examination. Results; Among 2 555 pregnant women, 210 pregnant women were found with high risk of Downs syndrome, accounting for 8. 2% ; 26 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 1.0% ; 29 pregnant women were found with high risk of neural tube defect, accounting for 1. 1%. Among the high risk pregnant women, 207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood, 12 pregnant women were found with abnormal chromosomal karyotype, the abnormal rate was 5. 8%. Conclusion; Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects, which can be used as a conventional method for prenatal screening.%目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值.方法:对2 555例孕中期(14 ~22周)孕妇血清AFP、β- hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认.结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎

  8. 桂西地区产前筛查人群珠蛋白生成障碍性贫血基因型分布%Genotype distribution of population screening for thalassemia prenatal in western area of Guangxi

    Institute of Scientific and Technical Information of China (English)

    陈丽坤; 韦国凯; 陈湘壬; 黄丽梅; 廖珍艺; 王俊利; 韦贵将

    2015-01-01

    目的:调查桂西地区产前筛查人群珠蛋白生成障碍性贫血(简称地贫)的基因携带率、基因型及其分布特征。方法回顾性分析2012~2013年桂西地区的右江民族医学院附属医院、百色市人民医院、百色市妇幼保健院共三家医院的以产前筛查为目的的育龄人群地贫检查相关数据,包括血常规、血红蛋白电泳、地贫基因检查等。结果收集到1718例(即859对)夫妇的地贫筛查的相关数据,得出育龄人群中地贫基因携带者651例,地贫总发生率为37.90%,其中α‐地贫347例,发生率为20.20%,β‐地贫304例,发生率为17.70%,α‐地贫复合β‐地贫54例,发生率为3.14%。共检出携带有相同α或β‐地贫基因型的高风险夫妇53对,占参检夫妇对数的6.17%。结论桂西地区产前筛查育龄人群地贫基因携带率近40%,其中α‐地贫基因型以αα/‐‐SEA和αα/‐α3.7为主;β‐地贫基因型以β17M/N和β41‐42M/N为主;此数据可为该地区育龄人群的地贫防控提供支持。%Objective To investigate gene carrying rate ,genotype and distribution characteristics of population screening for thalassemia prenatal in western area of Guangxi .Methods Relevant data of population screening for thalassemmia from 2012 to 2013 in Affiliated Hospital of Youjiang Medical University for Nationalities ,People′s Hospital of Baise City and Maternity and Child Care Hospital of Baise City were analyzed retrospectively ,including blood routine examination ,hemoglobin electrophoresis ,thalassemia gene inspection .Results Data of 1 718 cases (859 couples) screening thalassemia were collected ,there were 651 persons carrying thalassemia gene ,the total incidence rate was 37 .90% ,including α‐thalassemia 347 cases (20 .20% ) ,β‐thalassemia 304 cases (17 .70% ) ,α‐thalassemia complex β‐thalassemia 54 cases(3 .14% ) .A total of 53 couples with

  9. Amniotic cells culture and its application in the prenatal diagnosis%孕中期羊水细胞培养及其在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    武其文; 范含萍; 江峰; 浦春

    2012-01-01

    Objective :To explore an amniotic cell culture technology with higher harvests and verify its validity in prenatal diagnosis. Methods : The amniotic fluid samples were obtained in 238 pregnant women with gesta-tional weeks of 16 to 30 and indications for prenatal diagnosis by aseptic amniocentesis and cultured for determination of the chromosome karyo-type. In real performance, moderate improvement was done to the sample collection,cell inoculation and harvesting as well as aspects involved in the procedures. Results: Amniotic cells were finally cultured in 231 of 238 cases( 97. 1% )whose abnormalities were identified in 8( 3. 5% )in which 6 were abnormal number of chromosomes, 1 mosaic and another 1 , chromosomal balance translocation. Conclusion-. The modified amniotic cell culturing technique for kargotyping is effective in prenatal diagnosis of fetal chromosomal disease for its safety and reliability.%目的:探索一种具有较高培养成功率的羊水细胞培养技术及其在产前诊断中的应用.方法:238例孕16~30周且有产前诊断指征的孕妇,在无菌条件下行羊膜腔穿刺术采集羊水进行细胞培养和染色体核型分析.实验过程对标本的采集、细胞接种收获和制片等环节进行了改进.结果:238例孕妇羊水成功培养231例,成功率97.1%,发现染色体异常核型8例,异常率占3.5%;其中染色体数目异常6例,嵌合体1例,平衡易位1例.结论:改进后的羊水细胞培养染色体核型分析技术是孕中期产前诊断胎儿染色体病的一种安全、有效、可靠的方法.

  10. 血常规及Hb电泳在孕期筛查地中海贫血的临床价值分析%Clinical significance of blood routine test and Hb electrophoresis in prenatal screening of thalassemia

    Institute of Scientific and Technical Information of China (English)

    李娟; 黄楠

    2015-01-01

    目的::探讨产前筛查地中海贫血的临床意义。方法:通过回顾性分析,对就诊的2284例中孕期孕妇进行血常规、血红蛋白电泳检查进行地中海贫血筛查分析,对表型阳性的样本进一步行地中海贫血基因检测。结果:2284例孕妇中,地中海贫血筛查阳性的有139例(6.09%),经基因检测确诊为地中海贫血的125例(5.60%),地中海贫血筛查的诊断符合率较高89.93%(125/139)。结论:地中海贫血基因检测要求高,方法繁琐,地中海贫血筛查方法简单,诊断符合率较高,可用于基层医院筛查地中海贫血。%Objective: To investigate the clinical significance of prenatal screening of thalassemia. Methods2284 cases of pregnant women in the second trimester, screened for thalassemia phenotype through blood routine test and hemoglobin electrophoresis were retrospectively analyzed, and the positive samples were further detected for thalassemia gene. ResultsIn 2284 cases of pregnant women,139 cases ware positive(6.09%), and 125 cases were confirmed by thalassemia gene detection (5.60%). The diagnosis rate of screening of thalassemia was higher,89.93% (125/139). Conclusions Thalassemia gene detection is expensive and complicated, while the screening method is more simple, and the rate of diagnosis is relatively high. Therefore,it can be used in basic hospital.

  11. To research application of the reforming of amniotic cells culture on the methods in prenatal diagnosis%改良羊水细胞培养方法在产前诊断中的应用研究

    Institute of Scientific and Technical Information of China (English)

    向文秀

    2011-01-01

    目的 研究改良羊水细胞培养法在产前诊断中的应用.方法 采用改良多种处理方式的经典羊水细胞培养法和原位培养法对280例孕16-32周的孕妇进行羊水产前诊断.结果 成功率99.7%,培养收获时间5-7天,最短收获5天,最长7天.有效的细胞染色体核型>60个/例,发现异常核型15例,染色体异常栓出率5.4%.结论 两种改良羊水细胞培养技术,培养成功率高,细胞培养时间短,可供分析染色体核型多,培养适用范围宽,可满足临床产前诊断的需要.%objective: To research application of the reforming of amniotic fluid cells culture in different methods in prenatal diagnosis. Methods: 280 samples of amniotic fluid from pregnant women during 16 -32th -week gestation were cultured in the reforming of diverse ways to deal with of amniotic cell culture in classical method of amniotic fluid cell culture and method of situ cultivation. Results: The successful rate was 99. 7%. Culture Collection time: 5 -7days, the shortest time: 5 days, The most time: 7days. Effective karyotypes in each case were more than the 60. Discovered 15 cases of abnormal karyotype. 5.4% rate of chromosomal abnormalities detected. Conclusion: The reforming of two amniotic fluid cell culture techniques were superior than the classical method of amniotic fluid cell culture in training success rate, cell culture time, providing the number of analysis of karyotype and training scope. They can meet the needs of clinical prenatal diagnosis.

  12. Integrated economic and experimental framework for screening of primary recovery technologies for high cell density CHO cultures.

    Science.gov (United States)

    Popova, Daria; Stonier, Adam; Pain, David; Titchener-Hooker, Nigel J; Farid, Suzanne S

    2016-07-01

    Increases in mammalian cell culture titres and densities have placed significant demands on primary recovery operation performance. This article presents a methodology which aims to screen rapidly and evaluate primary recovery technologies for their scope for technically feasible and cost-effective operation in the context of high cell density mammalian cell cultures. It was applied to assess the performance of current (centrifugation and depth filtration options) and alternative (tangential flow filtration (TFF)) primary recovery strategies. Cell culture test materials (CCTM) were generated to simulate the most demanding cell culture conditions selected as a screening challenge for the technologies. The performance of these technology options was assessed using lab scale and ultra scale-down (USD) mimics requiring 25-110mL volumes for centrifugation and depth filtration and TFF screening experiments respectively. A centrifugation and depth filtration combination as well as both of the alternative technologies met the performance selection criteria. A detailed process economics evaluation was carried out at three scales of manufacturing (2,000L, 10,000L, 20,000L), where alternative primary recovery options were shown to potentially provide a more cost-effective primary recovery process in the future. This assessment process and the study results can aid technology selection to identify the most effective option for a specific scenario.

  13. 利用母血中胎儿有核红细胞结合血清筛查和三维超声无创性产前诊断唐氏综合征%Noninvasive prenatal screening of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum screening and three-dimensional ultrasound

    Institute of Scientific and Technical Information of China (English)

    相文佩; 温子娜; 水丽君; 徐晓燕; 陈汉平

    2011-01-01

    目的:利用母外周血中胎儿有核红细胞结合血清三联筛查及三维超声,建立快速无创性产前诊断唐氏综合征的有效模式.方法:早、中期孕妇共670例,采取血清三联筛查结合三维超声和病史选取唐氏高危孕妇,抽取高危孕妇的外周血,流式细胞术富集母血中的胎儿有核红细胞(Fetal Nucleated Red Blood Cells,FNRBCs);次日进行多重引物原位杂交(mutiprimed in situ labeling,multi-PRINS)检测胎儿细胞21号染色体与Y染色体.结果:通过血清三联筛查和三维超声结合病史筛选出高危孕妇24例,高危孕妇在两日内即可确诊,24例中诊断23例染色体正常胎儿,包括男胎12例、女胎11例;诊断1例男性唐氏综合征胎儿.24例标本检测结果和实际胎儿核型符合.结论:血清三联筛查、超声检查结合病史筛选出高危孕妇,然后利用母血中胎儿有核红细胞进行多重引物原位杂交检测细胞染色体,可作为快速、无创性产前诊断唐氏综合征的有效模式,并可为其他胎儿染色体基因异常或者宫内感染的无创性产前诊断提供参考.%Objective: To establish a rapid and effective noninvasive prenatal diagnostic model of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum triple screening and three -dimensional ultrasound. Methods:670 pregnant women of early, middle and late pregnancy were selected, the high risk pregnant women of Down's syndrome were chosen by senun triple screening combined with three - dimensional ultrasound and medical history; the peripheral blood samples of high risk pregnant women were abstracted, flow cytometry was used to enrich fetal nucleated erythrocytes in maternal blood; on the following day, multiple - primer in situ hybridization was used to detect Y chromosome and 21 chromosome in fetal cells. Results:24 high risk pregnant women of Down's syndrome were screened out by serum triple screening combined with

  14. Diagnóstico Prenatal

    OpenAIRE

    2010-01-01

    Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

  15. Effect of a Culture-Based Screening Algorithm on Tuberculosis Incidence in Immigrants and Refugees Bound for the United States

    Science.gov (United States)

    Liu, Yecai; Posey, Drew L.; Cetron, Martin S.; Painter, John A.

    2015-01-01

    Background Before 2007, U.S.-bound immigrants and refugees were screened for tuberculosis (TB) by a smear-based algorithm that could not diagnose smear-negative and culture-positive TB. In 2007, the Centers for Disease Control and Prevention began to implement a culture-based algorithm. Objective To evaluate the effect of the culture-based algorithm on preventing the importation of TB to the United States by immigrants and refugees from foreign countries. Design Population-based, cross-sectional study. Setting Panel physician sites for overseas medical examination. Patients Immigrants and refugees with TB. Measurements Comparison of the increase of smear-negative and culture-positive TB cases diagnosed overseas among immigrants and refugees by the culture-based algorithm with the decline of reported TB cases among foreign-born persons within 1 year after arrival in the United States from 2007 to 2012. Results Of the 3 212 421 arrivals of immigrants and refugees from 2007 to 2012, 1 650 961 (51.4%) were screened by the smear-based algorithm and 1 561 460 (48.6%) were screened by the culture-based algorithm. Among the 4032 TB cases diagnosed by the culture-based algorithm, 2195 (54.4%) were smear-negative and culture-positive. Before implementation (2002 to 2006), the annual number of reported TB cases among foreign-born persons within 1 year after arrival was relatively constant (range, 1424 to 1626 cases; mean, 1504 cases) but decreased from 1511 to 940 cases during implementation (2007 to 2012). During the same period, the annual number of smear-negative and culture-positive TB cases diagnosed overseas among U.S.-bound immigrants and refugees by the culture-based algorithm increased from 4 in 2007 to 629 in 2012. Limitation This analysis did not control for the decline in new arrivals of nonimmigrant visitors to the United States and the decrease of incidence of TB in their countries of origin. Conclusion Implementation of the culture-based algorithm in U

  16. 平行移位检查法筛查胎儿膝关节屈曲方向异常%Prenatal screening the abnormal flexed direction of knee joints by parallel moving examination

    Institute of Scientific and Technical Information of China (English)

    钱敏; 张丹; 孟焱; 翟林; 郑蓉

    2011-01-01

    目的 探讨平行移位检查法(PME)在产前筛查胎儿膝关节屈曲方向异常的价值.方法 4623例胎儿在常规筛查胎儿畸形的同时,应用PME检查法观察膝关节的屈曲方向,并注意观察胎儿四肢长骨的长度.结果 在所有受检妊娠胎儿中超声共观察到3例膝关节屈曲方向异常,检出率约为0.6‰.3例胎儿均足月行剖宫产分娩证实,均为女性患儿,其中Larsen综合征1例、先天性膝关节脱位2例.结论 PME检查法可观察胎儿膝关节屈曲方向,判断是否存在大关节形态异常,敏感性高,可有效提高胎儿大关节畸形的产前超声检出率.%Objective To investigate the value of parallel moving examination ( PME ) in prenatal screening the abnormal flexed direction of knee joints. Methods A total of 4623 fetus were examined by conventional ultrasound, and the fetal flexed direction of knee joint was observed by PME, the length of long bones of limbs was observed too. Results There were 3 cases of abnormal flexed direction of knee joints in all fetuses, the detection rate was 0. 6‰. 3 fetuses were females and confirmed by cesarean section, including 1 case of Larsen syndrome, 2 cases of congenital dislocation of knee joint. Conclusion PME ultrasonic examination can observe the flexed direction of knee joint, and evaluate the condition of knee joints. PME can improve the prenatal diagnostic rate of congenital big joints abnormity in fetus.

  17. 北京平谷区三年出生缺陷产前超声筛查分析%Prenatal Ultrasound Screening Analysis for the Birth Defects within 3 Years in Pinggu District in Beijing

    Institute of Scientific and Technical Information of China (English)

    刘大平

    2013-01-01

    Objective Ultrasonography in prenatal screening for birth defects diagnosis,understanding of the region the incidence of birth defects,in order to reduce the occurrence of congenital malformation.Methods In 2007,2008,my area,2009 (statistical time for every year from October 1st to next September 30th) delivery within seven days after the diagnosis of birth defects and ultrasound examination results were analyzed.Results In three years the region a total of 162 infants with birth defects,a total of 60 cases of prenatal ultrasound screening detected fetal malformation,and confirmed after birth ultrasound diagnosis correctly,ultrasound screening for the detection rate for 37 %.Missed diagnosis of malformations mainly for cardiac malformation in 45 cases,means (toe) abnormalities in 26 cases,lip,palate 8 cases.Conclusions Ultrasound examination can be detected in the vast majority of congenital fetal malformations,at present this area for gastroschisis,anencephaly and other obvious fetal malformation high detection rate,on minor malformations such as finger (toe) abnormalities in three years has never been detected,on fetal cardiac abnormalities by ultrasonography technology needs to be further improved.%目的 探讨超声产前筛查对出生缺陷的诊断价值,了解本地区出生缺陷的发生动态,为减少先天畸形的发生提供依据.方法 将平谷区2007-2009年(统计时间为每年10月1日至次年9月30日)分娩后7d内诊断的出生缺陷儿与超声检查结果,进行对比分析.结果 3年全区共分娩畸形儿162例,产前超声共筛查出60例畸形胎儿,且出生后证实超声诊断正确,超声筛查的检出率为37%.漏诊心脏畸形45例,指(趾)异常26例,唇、腭裂8例等.结论 超声检查可以检出绝大多数的胎儿先天畸形,目前平谷区对腹裂、无脑儿等明显的胎儿畸形检出率高,对微小畸形如指(趾)异常3年从未检出过,对胎儿心脏异常的超声检查技术有待进一步提高.

  18. 孕中期产前筛查7717例结果分析%Analysis on the prenatal screening results of 7 717 cases during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    楼淑芳

    2012-01-01

    Objective; To explore the chromosomal abnormality situations of positive fetuses of trisomy 21 syndrome, trisomy 18 syndrome and neural tube defect in serum screening during the second trimester of pregnancy, carry out secondary diagnosis among high risk population, find the ill fetuses, and prevent their birth. Methods; Time -resolved fluoroimmunoassay was used to calculate the risk values and cut values of trisomy 21 and trisomy 18, then the positive cases received chromosomal karyotype analysis. Results; Among 7 717 cases receiving prenatal screening, 295 pregnant women were found with high risk, including 191 cases with trisomy 21 syndrome, the positive rate was 2.48% ; 32 cases with trisomy 18 syndrome, the positive rate was 0.41% ; 72 cases with high risk of neural tube defect, the positive rate was 0. 93%. Sixty - three positive cases received fetal chromosomal karyotype analysis of amniotic fluid, 2 cases with trisomy 21 syndrome and 2 cases with trisomy 18 syndrome were diagnosed definitely; among the cases with neural tube defect, one case with myeloschisis, one case with cleft lip and palate, one case with viscera bareness and two cases with congenital heart disease were diagnosed definitely by ul-trasonography. Conclusion; Serum alpha fetoprotein detection and free -β- human chorionic gonadotropin detection during the second trimester of pregnancy can screen out the high risk cases of trisomy 21 syndrome, trisomy 18 syndrome, and neural tube defect, early diagnosis and early intervention can be achieved through prenatal diagnosis.%目的:探讨孕中期母血清筛查21-三体和18-三体综合征及神经管缺陷胎儿阳性病例中的染色体异常情况.对高风险人群进行后续诊断,及早发现患病胎儿,防止其出生.方法:采用时间分辨免疫荧光法,对风险值计算21-三体和18-三体切割值,对阳性病例进行染色体核型分析.结果:在7 717例产前筛查中共筛查出高风险孕妇295例,其中21-

  19. To investigate the Clinical Value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome%探讨3236例孕中期唐氏筛查的临床意义

    Institute of Scientific and Technical Information of China (English)

    王海燕; 陈熙; 周莉君; 刘云

    2014-01-01

    Objective To investigate the clinical value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome. Methods Applicate time-resolved fluorescence immunoassay on 3236 cases of second trimester (14-20+6weeks) women with three targets labeled testing of serum markers AFP, uE3and Free-β-HCG.Calculate the risk of Down’s Syndrome risk by using software.For these pregnant women who is with high risk of Down’s syndrome, use Amniocentesis and B scan to find fetal karyotype .Results There are 980 pragnant women with abnormal individual value or high risk of Down’s syndrome.Make the diagnosis by B-ultrasound ,amniocentesis,and examinating the newbirth baby ,there are 14 (1.4%) fetus and fetalor postnatal diagnosis of Down syndrome and Chromosomal disease .There are 2256 pragnant women with low risk of Down’s syndrome.And among which,there are 8(0.4%) fetalor postnatal diagnosis of congenital disease.Conclusion The value of Second Prenatal Trimester Screening for screening Chromosomal disease and reducing birth defects in children born is significant.%目的:探讨孕妇孕中期进行唐氏筛查的临床应用价值。方法使用全自动时间荧光免疫分辨仪对3236例孕中期(14~20+6周)妇女进行血清标记物血清甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素Free-β-亚基(Free-β-HCG)三项指标进行检测,使用软件计算风险值,对高风险和单项值异常的孕妇进行B超和羊水染色体检查。结果:其中唐氏筛查高风险和单项值异常的孕妇共980例,通过B超和羊水检查,或出生后确诊胎儿患唐氏综合征或各类染色体疾病的共有14例,占1.4%。筛查结果为低风险的孕妇共2256例,通过B超或出生后诊断胎儿患先天性疾病的有8例,占0.4%。结论:对孕中期的孕妇进行唐氏筛查不仅检查出唐氏综合征胎儿,还可以筛查出患有其他染色体疾病或神经管缺陷的胎儿,对降

  20. Prenatal screening and diagnosis of genetic deafness by microarray%芯片检测结合测序技术在遗传性耳聋产前基因筛查与诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    孙莲花; 李磊; 王晓雯; 朱亚忠; 柴永川; 李晓华; 吴皓; 杨涛

    2012-01-01

    Objective To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.Methods Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses.Nine common mutations in four major deafness genes,GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA,were detected simultaneously by a microarray-based method.Genetic counseling was given based on their testing results.Results 5.11% of pregnant women carried at least one mutation.Among them,seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning.For other mutation carriers of GJB2 or SLC26A4 genes,additional mutation screening was performed in their husbands by direct sequencing.A total of 20 couples were at risk of giving birth to children with genetic deafness.Of five couples who selected to undergo prenatal diagnostic testing of the fetus,four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.Conclusions DNA microarray is a quick,easy and reliable method to screen mutations in genetic deafness genes.Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.%目的 探讨遗传性耳聋基因检测芯片在中国孕妇人群常见遗传性耳聋基因突变位点检测中的作用,并评估其在遗传性耳聋产前诊断中的应用.方法 对3056例孕妇采集外周血并抽提DNA,采用遗传性耳聋基因芯片检测GJB2、SLC26A4、线粒体12S rRNA、GJB3等4个中国人群常见遗传性耳聋基因共9个突变热点.根据检测结果对有耳聋生育风险的夫妇提供遗传咨询与生育指导.结果 3056例孕妇中,共检测到156例携带至少一种基因突变,占总抽查人数的5.11%.其中7例为线粒体12S rRNA突变,预测后代亦为此突变携带者,需终生避免使用氨基糖苷类抗生素.149例

  1. Screening and Characterization of Potential Bacillus Starter Cultures for Fermenting Low-Salt Soybean Paste (Doenjang).

    Science.gov (United States)

    Jeon, Hye Hee; Jung, Ji Young; Chun, Byung-Hee; Kim, Myoung-Dong; Baek, Seong Yeol; Moon, Ji Young; Yeo, Soo-Hwan; Jeon, Che Ok

    2016-04-28

    The bacterial strains were screened as potential starters for fermenting low-salt doenjang (a Korean traditional fermented soybean paste) using Korean doenjang based on proteolytic and antipathogenic activities under 6.5-7.5% NaCl conditions. Phylogenetic analysis based on 16S rRNA gene sequences showed that they all belonged to the genus Bacillus. Proteolytic and antipathogenic activities against Escherichia coli, Bacillus cereus, Staphylococcus aureus, Listeria monocytogenes, and Aspergillus flavus, as well as fibrinolytic, amylase, and cellulase activities of the 10 strains were quantitatively evaluated. Of these, strains D2-2, JJ-D34, and D12-5 were selected, based on their activities. The functional, phenotypic, and safety-related characteristics of these three strains were additionally investigated and strains D2-2 and D12-5, which lacked antibiotic resistance, were finally selected. Strains D2-2 and D12-5 produced poly-γ-glutamic acid and showed various enzyme activities, including α-glucosidase and β-glucosidase. Growth properties of strains D2-2 and D12-5 included wide temperature and pH ranges, growth in up to 16% NaCl, and weak anaerobic growth, suggesting that they facilitate low-salt doenjang fermentation. Strains D2-2 and D12-5 were not hemolytic, carried no toxin genes, and did not produce biogenic amines. These results suggest that strains D2-2 and D12-5 can serve as appropriate starter cultures for fermenting low-salt doenjang with high quality and safety.

  2. Cultural tailoring for the promotion of Hepatitis B screening in Turkish Dutch: a protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Mackenbach Johan

    2010-11-01

    Full Text Available Abstract Background Chronic hepatitis B virus infection (HBV is an important health problem in the Turkish community in the Netherlands, and promotion of screening for HBV in this risk group is necessary. An individually tailored intervention and a culturally tailored intervention have been developed to promote screening in first generation 16-40 year old Turkish immigrants. This paper describes the design of the randomized controlled trial, which will be used to evaluate the effectiveness of the two tailored internet interventions as compared to generic online information on HBV, and to assess the added value of tailoring on socio-cultural factors. Methods/Design A cluster randomized controlled trial design, in which we invite all Rotterdam registered inhabitants born in Turkey, aged 16-40 (n = 10,000, to visit the intervention website is used. A cluster includes all persons living at one house address. The clusters are randomly assigned to either group A, B or C. On the website, persons eligible for testing will be selected through a series of exclusion questions and will then continue in the randomly assigned intervention group. Group A will receive generic information on HBV. Group B will receive individually tailored information related to social-cognitive determinants of screening. Group C will receive culturally tailored information which, next to social-cognitive factors, addresses cultural factors related to screening. Subsequently, participants may obtain a laboratory form, with which they can be tested free of charge at local health centres. The main outcome of the study is the percentage of eligible persons tested for HBV through to participation in one of the three groups. Measurements of the outcome behaviour and its determinants will be at baseline and five weeks post-intervention. Discussion This trial will provide information on the effectiveness of a culturally tailored internet intervention promoting HBV-screening in first

  3. The relationship between the result of prenatal screening and age, bady weight, gestational age%产前筛查结果与年龄、体质量、孕周的关系

    Institute of Scientific and Technical Information of China (English)

    王莉; 郭秀仪

    2013-01-01

    目的 研究中期孕妇产前筛查唐氏综合征、开放性脊柱裂(OSB)、爱德华综合征3种严重先天性缺陷与年龄、体质量、孕周的关系,探讨产前筛查的影响因素,避免相关因素的影响,降低产前筛查的假阳性和假阴性,提高产前筛查的准确率.方法 全自动化学发光免疫分析仪检测5 347例妊娠14~21周中期孕妇血清中甲胎蛋白(AFP)、游离人绒毛膜促性腺激素β-亚单位(Free-β-hCG)、游离雌三醇(μ-E3)水平,应用风险评估软件系统,结合孕妇年龄、体质量、孕周、产次、吸烟、是否糖尿病等因素校正后分别得出3种先天缺陷是否高风险.结果 5 347例中,筛查出唐氏综合征阳性391例,占7.31%(391/5 347);OSB阳性85例,占1.59%(85/5 347);爱德华氏综合症阳性21例,占0.39%(21/5347).唐氏综合征及爱德华综合征与年龄相关(均为P<0.001),均随年龄增大筛查阳性率增高,不同年龄分组间阳性率差异有统计学意义(P<0.01),OSB与年龄不相关(P>0.05).体质量因素、三种先天缺陷均与体质量相关(P<0.00l),唐氏综合征阳性率随体质量增加而增高OSB阳性率随体质量增加而降低,爱德华综合征阳性率表现为40 kg以下及65 kg以上较中间体质量阳性率高.孕周因素,OSB与孕周相关(P<0.05),但不同孕周分组间OSB阳性率差异无统计学意义(P>0.05),唐氏综合征及爱德氏综合征与孕周不相关(均为P>0.05).结论 产前筛查受众多因素影响,特别是年龄、体质量、孕周,筛查中应准确掌握孕妇的相关信息,才能提高产前筛查的效率.%Objective To evaluate the impact of age.bady weight, Gestational age on the screening of Down's syndrome, Edward s syndromedrisomy 18 syndrome),open spina bifida(OSB). To reduce false positive and false negative, increase prenatal screening efficiency. Methods Detect the level of Alpha-fetoprotein ( AFP ) ,free human chorionic gonadotropin beta subunit

  4. Evaluation of Real-time PCR and Pyrosequencing for Screening Incubating Blood Culture Bottles from Adults with Suspected Bloodstream Infection

    Science.gov (United States)

    McCann, Chase D.; Moore, Miranda S.; May, Larissa S.; McCarroll, Matthew; Jordan, Jeanne A.

    2015-01-01

    Several molecular platforms can identify bacteria associated with bloodstream infections, but require positive culture bottles as starting material. Here we describe results of screening 1140 blood cultures at 8 hours post-inoculation, from 918 eligible adults being evaluated for bloodstream infection. DNA was extracted and analyzed by 16S and/or 23S rRNA real-time PCR/Pyrosequencing. Compared to culture, PCR/Pyrosequencing displayed 90.9% sensitivity, 99.6% specificity, 95.7% PPV, and 99.1% NPV. Overall concordance rate was 98.9% (1127/1140). In four cases with molecular-positive/culture-negative results, medical chart reviews provided evidence of identical bacteria from subsequent blood or concomitant urine/sputum cultures. Nine culture-positive/molecular-negative cases were associated with either polymicrobial growth, grew only in the anaerobic bottle of the clinical pair, and/or were detected by PCR/Pyrosequencing after 8 hours. In summary, this approach accurately detected and identified bacteria in ~91% of culture-confirmed cases significantly sooner than the phenotypic identification was available, having the potential to improve antibiotic stewardship. PMID:25534615

  5. Evaluation of real-time PCR and pyrosequencing for screening incubating blood culture bottles from adults with suspected bloodstream infection.

    Science.gov (United States)

    McCann, Chase D; Moore, Miranda S; May, Larissa S; McCarroll, Matthew G; Jordan, Jeanne A

    2015-03-01

    Several molecular platforms can identify bacteria associated with bloodstream infections but require positive culture bottles as starting material. Here, we describe results of screening 1140 blood cultures at 8h postinoculation, from 918 eligible adults being evaluated for bloodstream infection. DNA was extracted and analyzed by 16S and/or 23S rRNA real-time PCR/pyrosequencing. Compared to culture, PCR/pyrosequencing displayed 90.9% sensitivity, 99.6% specificity, 95.7% positive predictive value, and 99.1% negative predictive value. Overall concordance rate was 98.9% (1127/1140). In 4 cases with molecular-positive/culture-negative results, medical chart reviews provided evidence of identical bacteria from subsequent blood or concomitant urine/sputum cultures. Nine culture-positive/molecular-negative cases were associated with either polymicrobial growth, grew only in the anaerobic bottle of the clinical pair, and/or were detected by PCR/pyrosequencing after 8h. In summary, this approach accurately detected and identified bacteria in ~91% of culture-confirmed cases significantly sooner than the phenotypic identification was available, having the potential to improve antibiotic stewardship.

  6. Purified human pancreatic duct cell culture conditions defined by serum-free high-content growth factor screening.

    Directory of Open Access Journals (Sweden)

    Corinne A Hoesli

    Full Text Available The proliferation of pancreatic duct-like CK19+ cells has implications for multiple disease states including pancreatic cancer and diabetes mellitus. The in vitro study of this important cell type has been hampered by their limited expansion compared to fibroblast-like vimentin+ cells that overgrow primary cultures. We aimed to develop a screening platform for duct cell mitogens after depletion of the vimentin+ population. The CD90 cell surface marker was used to remove the vimentin+ cells from islet-depleted human pancreas cell cultures by magnetic-activated cell sorting. Cell sorting decreased CD90+ cell contamination of the cultures from 34±20% to 1.3±0.6%, yielding purified CK19+ cultures with epithelial morphology. A full-factorial experimental design was then applied to test the mitogenic effects of bFGF, EGF, HGF, KGF and VEGF. After 6 days in test conditions, the cells were labelled with BrdU, stained and analyzed by high-throughput imaging. This screening assay confirmed the expected mitogenic effects of bFGF, EGF, HGF and KGF on CK19+ cells and additionally revealed interactions between these factors and VEGF. A serum-free medium containing bFGF, EGF, HGF and KGF led to CK19+ cell expansion comparable to the addition of 10% serum. The methods developed in this work should advance pancreatic cancer and diabetes research by providing effective cell culture and high-throughput screening platforms to study purified primary pancreatic CK19+ cells.

  7. Performance of the dipstick screening test as a predictor of negative urine culture.

    Science.gov (United States)

    Marques, Alexandre Gimenes; Doi, André Mario; Pasternak, Jacyr; Damascena, Márcio Dos Santos; França, Carolina Nunes; Martino, Marinês Dalla Valle

    2017-01-01

    To investigate whether the urine dipstick screening test can be used to predict urine culture results. A retrospective study conducted between January and December 2014 based on data from 8,587 patients with a medical order for urine dipstick test, urine sediment analysis and urine culture. Sensitivity, specificity, positive and negative predictive values were determined and ROC curve analysis was performed. The percentage of positive cultures was 17.5%. Nitrite had 28% sensitivity and 99% specificity, with positive and negative predictive values of 89% and 87%, respectively. Leukocyte esterase had 79% sensitivity and 84% specificity, with positive and negative predictive values of 51% and 95%, respectively. The combination of positive nitrite or positive leukocyte esterase tests had 85% sensitivity and 84% specificity, with positive and negative predictive values of 53% and 96%, respectively. Positive urinary sediment (more than ten leukocytes per microliter) had 92% sensitivity and 71% specificity, with positive and negative predictive values of 40% and 98%, respectively. The combination of nitrite positive test and positive urinary sediment had 82% sensitivity and 99% specificity, with positive and negative predictive values of 91% and 98%, respectively. The combination of nitrite or leukocyte esterase positive tests and positive urinary sediment had the highest sensitivity (94%) and specificity (84%), with positive and negative predictive values of 58% and 99%, respectively. Based on ROC curve analysis, the best indicator of positive urine culture was the combination of positives leukocyte esterase or nitrite tests and positive urinary sediment, followed by positives leukocyte and nitrite tests, positive urinary sediment alone, positive leukocyte esterase test alone, positive nitrite test alone and finally association of positives nitrite and urinary sediment (AUC: 0.845, 0.844, 0.817, 0.814, 0.635 and 0.626, respectively). A negative urine culture can be

  8. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  9. Developing a brief cross-culturally validated screening tool for externalizing disorders in children

    NARCIS (Netherlands)

    Zwirs, Barbara W. C.; Burger, Huibert; Schulpen, Tom W. J.; Buitelaar, Jan K.

    2008-01-01

    Objective: Most screening instruments for externalizing disorders have been developed and validated in Western children. We developed and validated a brief screening instrument for predicting externalizing disorders in native Dutch children as well as in non-Dutch immigrant children, using predictor

  10. 孕早期胎儿超声结构筛查的必要性探讨%The essentiality of prenatal ultrasound screening of fetal malformations in the first trimester

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2012-01-01

    Objective; To assess the essentiality of ultrasound screening in detecting the abnormal cases in the first trimester. Methods: The retrospective review included the pregnant women in the first trimester from December 1, 2007 to October 31, 2010 in the Center for prenatal diagnosis in The Affiliated Drum Tower hospital of Nanjing University Medical College. Scan fetal structural with transabdominal ultrasound, the conventional measurement of fetal crown - rump distance ( CRL) , nuchal translucency thickness (NT) , fetal heart rate (HR) , observation of fetal brain, spine, extremities, thoracic and abdominal wall, four - chamber view of the heart, stomach, bladder, double umbilical artery, placental and amniotic fluid volume and other indicators, determine whether fetal structural abnormalities and its appendages. Results; A total of 3000 pregnant women in 11 -13 +6 weeks suffered the examination, in which a single pregnancy in 2514 cases, 478 cases of twin pregnancy, three pregnancy in 8 cases. All of them, there were 91 cases with fetal structural abnormalities. Conclusion: Ultrasound screening in the first trimester can detect out the severe structural abnormalities of fetal at the very onset, and provide the support for further prenatal diagnosis and obstetric treatment. For multiple pregnancy after the discovery of fetal structural abnormalities, but also in judgment of chorionic, to provide the basis for abnormal conditions in the treatment.%目的 通过研究孕早期胎儿超声结构筛查发现的异常病例,探讨孕早期行超声结构筛查的必要性.方法 回顾2007年12月1日至2010年10月31日在南京市鼓楼医院产前诊断中心超声室行孕早期胎儿结构筛查的孕妇,行经腹部超声检查胎儿,常规测量胎儿冠臀距(CRL)、颈项透明层厚度(NT)、胎心率(HR),观察胎儿颅脑、脊柱、四肢、胸腹壁、四腔心结构、胃泡、膀胱、双脐动脉、胎盘及羊水量等指标,明确有无胎儿及其

  11. Prenatal ultrasound screening for fetal malformation of category in the middle and late preg-nancy:analysis of 1200 cases%中晚孕期产前超声筛查胎儿畸形1200例分析

    Institute of Scientific and Technical Information of China (English)

    曾理; 马继斌; 杨鑫荣

    2015-01-01

    目的:探讨产前超声在胎儿畸形类别筛查中的应用价值。方法2014年2月至2015年3月在我院行胎儿早孕期超声检查正常的孕妇1200例,分别在中孕期(第21~30周)及晚孕期(第31~35周)复查超声。结果中孕期检出畸形胎儿14例(1.17%),其中中枢神经畸形检出率最高(3例),其次是心血管畸形、颜面部畸形、胎儿肿瘤、腹裂、脐膨出、双胎畸形、骨骼及四肢畸形、泌尿系统畸形、呼吸系统畸形、消化系统畸形。晚孕期检出畸形胎儿4例(0.33%),分别为呼吸系统异常、沁尿系统异常、颜面部异常及心脏异常。结论产前超声检查对胎儿畸形的诊断具有重要的意义。超声检查在中孕期对部分畸形类别效果欠佳,因此在孕晚期进行超声检查时需对胎儿的颜面部、呼吸系统及心血管等器官进行筛查,最大程度地降低畸形的漏诊率。%Objective To investigate the clinical value of prenatal ultrasound screening for fetal malformation of category. Methods During the period between February 2014 and March 2015,1200 normal pregnancy women in early pregnancy ultrasound ex-amination were re-examined during the second trimester(21~30 weeks)and the late pregnancy(31~35 weeks).Results Fourteen cases with fetal malformation were detected in the second trimester re-examination(1.17%).Of the 14 cases,the highest positive rate was central nervous system malformation( n=3) followed by cardiovascular malformations,fetal facial malformations,fetal tumors,gas-troschisis,umbilical bulging,twin malformation,skeletal deformity and the four limbs malformation,malformation of the urinary system, and abnormalities of respiratory system and digestive system.In the late pregnancy check,4 fetal malformations were found(0.33%). The malformations were abnormalities of respiratory system、malfarmation of urinary system.cardiovascular malformations and fetal facial malformations

  12.   Information and acceptance of prenatal examinations - a qualitative study

    DEFF Research Database (Denmark)

    Fleron, Stina Lou; Dahl, Katja; Risør, Mette Bech

      Background:In 2004 The Danish National Board of Health issued new guidelines on prenatal examinations. The importance of informed decision making is strongly emphasised and any acceptance of the screenings tests offered should be based on thorough and adequate information. Objective...... and hypothesis:To explore the influence of information in the decision-making process of prenatal screenings tests offered, the relation between information, knowledge and up-take rates and reasons for accepting or declining the screenings tests offered.  Methods:The study is based on a qualitative approach...... using a semi-structured interview guide and includes 26 pregnant women each interviewed shortly after having received information at their general practitioner, and again after having completed prenatal screenings tests.   Results:Only very few of the pregnant women in this study remember having...

  13. Vida PURA: A Cultural Adaptation of Screening and Brief Intervention to Reduce Unhealthy Drinking Among Latino Day Laborers.

    Science.gov (United States)

    Ornelas, India J; Allen, Claire; Vaughan, Catalina; Williams, Emily C; Negi, Nalini

    2015-01-01

    Brief intervention is known to reduce drinking in primary care; however, because health care access is limited for Latino immigrants, traditional brief interventions are unlikely to reach this population. Using Barrera and Castro's framework, our study aims to culturally adapt a screening and brief intervention program to reduce unhealthy alcohol use among Latino day laborers, a particularly vulnerable group of Latino immigrant men. We conducted 18 interviews with Latino day laborers and 13 interviews with mental health and substance use providers that serve Latino immigrant men. Interviews were conducted until saturation of themes was reached. Themes from interviews were used to identify sources of mismatch between traditional screening and brief intervention in our target population. Unhealthy alcohol use was common, culturally accepted, and helped relieve immigration-related stressors. Men had limited knowledge about how to change their behavior. Men preferred to receive information from trusted providers in Spanish. Men faced significant barriers to accessing health and social services but were open to receiving brief interventions in community settings. Findings were used to design Vida PURA, a preliminary adaptation design of brief intervention for Latino day laborers. Key adaptations include brief intervention at a day labor worker center provided by promotores trained to incorporate the social and cultural context of drinking for Latino immigrant men. Culturally adapted brief intervention may help reduce unhealthy drinking in this underserved population.

  14. 彩色多普勒检测胎儿三尖瓣反流产前筛查的临床意义%Clinical significance of color doppler detection in prenatal screening of fetal tricuspid regurgitation

    Institute of Scientific and Technical Information of China (English)

    王京平; 王萍平; 郑来坤

    2014-01-01

    目的:探讨彩色多普勒在中晚孕胎儿三尖瓣反流产前筛查中的临床意义及鉴别诊断。方法选择2009年3月~2012年6月就诊的11265例中晚期孕妇。观察其胎儿三尖瓣口彩色多普勒反流情况及脉冲多普勒评估流速、压差,追踪随访。结果1306例胎儿监测到三尖瓣反流,发生率11.6%。其中反流速度大于2.8m/s者46例,小于2.8m/s者1261例。结论彩色多普勒能够敏感地检出胎儿三尖瓣反流,对胎儿某些心脏疾病的诊断提供重要临床价值。%Objective To investigate the clinical significance and differential diagnosis of color doppler in the prenatal screening of middle and late pregnancy fetal tricuspid regurgitation. Methods 11265 middle and late pregnancy gravidae treated from March 2009 to June 2012 were selected. The color doppler tricuspid regurgitation situation of their fetuses was observed and the pulse doppler was used to evaluate the flow rate and pressure difference;the fetuses received follow-up visits. Results 1306 fetuses showed tricuspid regurgitation, with the incidence of 11.6%.Among them, 46 fetuses had a backflow rate over 2.8m/s and 1261 fetuses less than 2.8m/s. Conclusion Color doppler can detect fetal tricuspid regurgitation sensitively and is therefore of important clinical value for some fetal heart diseases.

  15. Prenatal care: associations with prenatal depressive symptoms and social support in low-income urban women.

    Science.gov (United States)

    Sidebottom, Abbey C; Hellerstedt, Wendy L; Harrison, Patricia A; Jones-Webb, Rhonda J

    2017-06-03

    We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care. Women with both no/low partner support and elevated depressive symptoms were at highest risk of late care (AOR 1.85, CI 1.31, 2.60, p care (AOR 0.74, CI 0.54, 1.10, p = 0.051). Women with moderate/high depressive symptoms were less likely to experience less than adequate care compared to women with low symptoms (AOR 0.73, CI 0.56, 0.96, p = 0.022). Social support and partner support were negatively associated with indices of prenatal care use. Partner support was identified as protective for women with depressive symptoms with regard to late care. Study findings support public health initiatives focused on promoting models of care that address preconception and reproductive life planning. Practice-based implications include possible screening for social support and depression in preconception contexts.

  16. 血清学、系统超声及其联合应用在产前三种出生缺陷筛查中的效能比较研究%A comparative study of serological effectiveness,system of ultrasonic and combined screening in prenatal screening of three kinds of ;birth defects

    Institute of Scientific and Technical Information of China (English)

    宋丹琳; 王英兰; 郑静; 熊奕; 霍梅

    2016-01-01

    形,筛查以唐氏综合征、18-三体综合征为主的染色体疾病的有效方法之一。系统超声筛查效能高于单一血清学筛查,联合筛查效能高于单一血清学筛查,以血清学筛查为基础,联合超声筛查,可以提高产前筛查准确率。中孕期系统超声筛查能诊断大部分胎儿结构畸形,降低出生缺陷。同时超声筛查发现的一些结构异常可以提示胎儿染色体异常,中孕期超声筛查对于18-三体有较高的提示作用。%Objective To compare the efficiency of serum screening,ultrasound screening and the combination of both in the screening of chromosomal disorders including Down syndrome and trisomy 18,in order to reduce the incidence of birth defects,as well as to provide a scientific foundation for the effective implementation of prenatal screening. Methods 38 165 singleton pregnancies between 15 and 20 weeksˊgestation who carried out prenatal screening during November 2013 to November 2014 were retrospectively studied. 2 ml of venous blood were used to detect the concentration of freeβ-human chorionic gonadotropin(fHCG),α-fetoprotein(AFP)and /or estriol(uE3). The risk value of Downˊs syn-drome,trisomy 18 syndrome and neural tube defects were caculated by using algorithms,and Pregnancies with high risk of Downˊs syndrome or tri-somy 18 who signed informed consent would underwent karyotypeanalysis. 10 727 cases who performed ultrasound screening between 15 and 28weeksˊgestation were included in the study. Fetuses who were detected with abnormal ultrasound findings were considered screening positive. All utrasonography screening positive women who signed informed would underwent prenatal diagnose. Results There were 1 708 women accepted prenatal diagnose who were Down syndrome and trisomy 18 screen-positive,69 cases with abnormal fetal karyotype were found with the abnormal rate of 4. 0%,among which there were 38 cases with aneuploid,including 25 cases of 21 trisomy

  17. Application and Influences of Prenatal Screening for Hepatitis B Virus Surface Antigen among Pregnant Women in Poverty Areas%贫困地区孕产妇乙型肝炎病毒表面抗原筛查服务利用现状及影响因素研究

    Institute of Scientific and Technical Information of China (English)

    孙校金; 余文; 速存芬; 钱晏飞; 杨政; 莫峰; 梁晓峰; 崔富强; 王富珍; 陈园生; 郑徽; 吴振华; 缪宁; 马汉平; 罗梅

    2011-01-01

    Objective To understand of application and influences of prenatal screening for hepatitis B virus surface antigen (HBsAg) among pregnant women in poverty areas. Methods 493 women who delivery babies during January 1, 2009 and December 31, 2010 were investigated in Fuyuan county of Yunnan province. Results The prenatal screening rate for HBsAg was 78.3%, and the influences were the residence, the place of delivery, the attitude of the willngness to screen for HBsAg paying by themselves. Conclusion The application of prenatal screening for HBsAg was still low in the poverty areas. In order to control the perinatal transmission of HBV, health promotion and prenatal screening for HBsAg should be strengthened.%目的 了解贫困地区孕产妇对乙型肝炎病毒表面抗原(Hepatitis B Virus Surface Antigen,HBsAg)筛查服务的利用情况及影响因素.方法 在云南省富源县,对493名于2009年1月1日~2010年12月31日分娩的孕产妇,进行HBsAg筛查服务利用情况的调查.结果 孕产妇HBsAg筛查率为78.3%,孕产妇的居住地、分娩地点、是否愿意自费做筛查的态度,是影响孕产妇利用产前HBsAg筛查服务的因素.结论 贫困地区孕产妇对产前HBsAg筛查服务的利用还有待提高,有必要通过提高筛查服务的可及性和加强宣传,促进孕产妇对产前HBsAg筛查服务的利用.

  18. Prenatal Risk Calculation (PRC) 3.0: An Extended DoE-Based First-Trimester Screening Algorithm Allowing For Early Blood Sampling

    Science.gov (United States)

    Merz, E.; Thode, C.; Eiben, B.; Wellek, S.

    2016-01-01

    Aim: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. Methods: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL [corresponding to 63 to 98 days of gestation]. Prior to determining reference limits from which the DoEs for each individual patient had to be calculated, the log concentrations of all PAPP-A and free ß-hCG values were transformed once more using the calibration approach established in 1 for the elimination of the influence of maternal weight. Results: Although that part of the database which was available for estimating the reference bands for blood sampling times prior to 11 weeks of gestation was comparatively sparse (898 out of 186 215 pregnancies with euploid outcome), the key statistical characteristics of the extended risk-calculation procedure turned out to be very satisfactory. Using the same cutoff value of 1:150 for the posterior risks of trisomy 21 and 13/18, the overall FPR (false positive rate) for diagnosing a T21 was found to be 3.42%. The corresponding DTR (detection rate) was obtained to be 86.8% and thus exceeded the DTR attained by PRC 2.0 for trisomy 21. For trisomies 13 and 18, the proportions of patients with calculated posterior risks exceeding the cutoff value of 1:150 were obtained to be 1.60% (=FPR) and 86.4% (=DTR). Conclusion: Transforming the measured concentrations of PAPP-A and free ß-hCG to the logarithmic scale allows one to extend the Do

  19. Avaliação da aplicação do protocolo de triagem pré-natal para toxoplasmose em Belo Horizonte, Minas Gerais, Brasil: estudo transversal em puérperas de duas maternidades Evaluation of prenatal screening for toxoplasmosis in Belo Horizonte, Minas Gerais State, Brazil: a cross-sectional study of postpartum women in two maternity hospitals

    Directory of Open Access Journals (Sweden)

    Ericka Viana Machado Carellos

    2008-02-01

    Full Text Available Foi realizado estudo transversal, em duas maternidades públicas de Belo Horizonte, Minas Gerais, Brasil, com entrevista de 420 puérperas, de agosto de 2004 a maio de 2005, para avaliar a aplicação do protocolo de triagem pré-natal para toxoplasmose implantado, e as orientações oferecidas às gestantes suscetíveis. A cobertura do pré-natal foi de 98%, e da primeira triagem sorológica de 97%. O início do pré-natal e a realização da primeira sorologia ocorreram em média com 16 semanas. Foram identificadas 163 gestantes suscetíveis à toxoplasmose: 44% não repetiram a sorologia, e 42% alegaram não ter recebido orientações para prevenção da toxoplasmose. O início precoce do pré-natal e um maior número de consultas foram associados à repetição da sorologia e ao recebimento de orientações. As informações oferecidas foram: evitar contato com gatos (95%, não ingerir ou manipular carne crua (70% e lavar cuidadosamente as hortaliças (53%. Concluiu-se que a adesão inadequada ao protocolo de triagem pré-natal de toxoplasmose encontrada no estudo pode gerar gastos financeiros sem melhoria na qualidade do cuidado perinatal.This cross-sectional study of 420 women in two public maternity hospitals from August 2004 to May 2005 evaluated the application of a prenatal toxoplasmosis serological screening protocol in Belo Horizonte, Minas Gerais State, Brazil, and the information provided to susceptible pregnant women. Ninety-eight percent of women received prenatal care and 97% underwent the initial serological screening test, at an average of 16 weeks gestational age. The initial testing identified 163 women as susceptible to toxoplasmosis: 44% of these did not undergo repeat serological testing, and 42% of them did not remember having received information on the prevention of toxoplasmosis infection. Early prenatal care and a high number of prenatal visits were associated with repeat serological testing and orientation regarding

  20. Screening for Developmental Neurotoxicants using In Vitro "Brain on a Chip" Cultures

    Science.gov (United States)

    Currently there are thousands of chemicals in the environment that have not been screened for their potential to cause developmental neurotoxicity (DNT). The use of microelectrode array (MEA) technology allows for simultaneous extracellular measurement of action potential (spike)...

  1. Screening Test of Greenhouse Seeding Exercise Matrix for Tissue Culture Seeding of Dendrobium Officinale Kimura et Migo

    Directory of Open Access Journals (Sweden)

    Zhou Yuan

    2015-01-01

    Full Text Available The Dendrobium officinale Kimura et Migo has a high demand on planting matrix, while its tissue culture seeding has much more demands on planting matrix. To find out a seeding exercise matrix to enhance the survival rate of tissue culture seeding of Dendrobium officinale Kimura et Migo more efficiently, this article carries out a screening test of greenhouse seeding exercise matrix material for tissue culture seeding of Dendrobium officinale Kimura et Migo. The test adopts full random test design, mainly for screening test of five matrix materials, namely pine bark, camphor tree bark, fern root, peanut shell and longan bark. Compare the impact of prepared seeding exercise matrix on the survival rate and growth trend (including plant height, growth rate and bud growth rate. The test result shows that: The seeding exercise matrix prepared by fern root is the most efficient, and the survival rate, plant height, growth rate and bud growth rate have achieved 100%, 4.5cm, 43.67% and 54.33% respectively. The main reason may be that the seeding exercise matrix C prepared by fern root is fairly loose and has a great water permeability, which is conducive to the growth of Dendrobium officinale Kimura et Migo.

  2. Phosphorus Uptake and Utilisation Efficiencies of Different Wheat Cultivars Based on a Sand-Culture Screening System

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    A sand-based culture system using rock phosphate (P) was developed to simulate the situation in alkalinesoils, with respect to the dominant P form, and five wheat cultivars (Excalibur, Brookton, Krichauff, Westoniaand Sunco) were tested in this screening system to compare their P uptake and utilisation efficiencies. Resultsshowed that these cultivars differed significantly in their ability to acquire P from the sparingly available form(rock phosphate in this case). The accumulation of P by Brookton was three times that by Krichauff. Pconcentrations in plant tissues did not differ significantly, indicating that all cultivars were similar in Putilisation efficiency. A further experiment showed that the greater ability of a cultivar to take up P fromsparingly available form was related to the ability of a cultivar to acidify the rhizosphere. Seed P content wasa confounding factor in this system, and the use of relatively uniform seed with similar P content, preferablylow, was conducive to a successful outcome of the screening process.

  3. Group B Streptococcus: compliance with the information in prenatal card records and knowledge of pregnant women.

    Science.gov (United States)

    de Mello, Débora Silva; Tsunechiro, Maria Alice; Mendelski, Caroline Ataíde; Pierre, Sandra Abib; Silva, Atalanta Ruiz; Padoveze, Maria Clara

    2015-04-01

    This study aimed to determine the rate of compliance on prenatal cards and the women's knowledge and feelings regarding Group B Streptococcus (GBS) screening in a maternity ward in São Paulo City, Brazil. Structured interviews and a review of prenatal card records of 391 women were performed. The GBS screening was not recorded in more than half of prenatal cards (51.4%, n = 201); 169 women reported no knowledge or not remembering the GBS screening. Copyright © 2015 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

  4. The application of second trimester maternal serum in prenatal screening for Down 's syndrome%孕中期母血清标记物在唐氏综合征产前筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    谢晓媛; 张颖; 崔岚; 辛力; 岳胜

    2011-01-01

    目的:探讨妊娠中期血清标记物甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(Free-β-HCG)在妊娠中期唐氏综合征产前筛查中的应用价值.方法:应用时间分辨免疫荧光法对天津市2009年1月~2010年1月75 876例孕15~20+6周妇女进行血清AFP和Free-β-HCG含量检测,结合年龄、孕周、单双胎、体质量、既往异常妊娠史、有无糖尿病、吸烟史等因素,通过Life Cycle 3.0版软件进行风险率评估,对高风险妊娠妇女进行遗传咨询,在知情同意的情况下进行羊膜腔穿刺及B超检查以确诊.结果:75 876例妊娠妇女中,筛出染色体异常高风险妊娠妇女4 241例,其中1 036例接受羊膜腔穿刺产前诊断,发现唐氏综合征(DS) 16例、18-三体综合征2例、其他胎儿染色体异常9例;27例中有18例<35岁;建立了该地区妊娠中期两项筛查指标的中位数值.DS胎儿母亲血中AFP水平较正常孕妇女降低,Free-β-HCG水平增加;18-三体胎儿的母亲血中AFP和Free-β-HCG水平均降低.结论:不能以年龄作为筛查DS的唯一指标,孕中期母体血清AFP、Free-β-HCG联合检测可能是预测胎儿染色体畸形的有效指标,经产前诊断及时采取措施,能降低出生缺陷,对优生工作具有重要意义.%Objective; To explore the application of second trimester maternal serum marker, alpha - fetoprotein (AFP) and free -β - human chorionic gonadotropin ( Free - β - HCG) , in prenatal screening for Downs syndrome ( DS) . Methods: From January, 2009 to January, 2010. 75 876 pregnant women at 15 through 20 +6 weeks of gestation were received in Tianjin, and alpha - fetoprotein and free -β - human chorionic gonadotropin of them were measured by time - resolved fluoroimmunoassay. Then the risk of DS was evaluated by use of statistical software life Cycle 3. 0 combined with age, gestational weeks, weight, always unusually gravid history, without diabetic, smoking history and other factors

  5. Developing a Culturally Responsive Breast Cancer Screening Promotion with Native Hawaiian Women in Churches

    Science.gov (United States)

    Kaopua, Lana Sue

    2008-01-01

    This article presents findings from research to develop the promotional component of a breast cancer screening program for Native Hawaiian women associated with historically Hawaiian churches in medically underserved communities. The literature on adherence to health recommendations and health promotions marketing guided inquiry on screening…

  6. Development of a 3D Tissue Culture-Based High-Content Screening Platform That Uses Phenotypic Profiling to Discriminate Selective Inhibitors of Receptor Tyrosine Kinases.

    Science.gov (United States)

    Booij, Tijmen H; Klop, Maarten J D; Yan, Kuan; Szántai-Kis, Csaba; Szokol, Balint; Orfi, Laszlo; van de Water, Bob; Keri, Gyorgy; Price, Leo S

    2016-10-01

    3D tissue cultures provide a more physiologically relevant context for the screening of compounds, compared with 2D cell cultures. Cells cultured in 3D hydrogels also show complex phenotypes, increasing the scope for phenotypic profiling. Here we describe a high-content screening platform that uses invasive human prostate cancer cells cultured in 3D in standard 384-well assay plates to study the activity of potential therapeutic small molecules and antibody biologics. Image analysis tools were developed to process 3D image data to measure over 800 phenotypic parameters. Multiparametric analysis was used to evaluate the effect of compounds on tissue morphology. We applied this screening platform to measure the activity and selectivity of inhibitors of the c-Met and epidermal growth factor (EGF) receptor (EGFR) tyrosine kinases in 3D cultured prostate carcinoma cells. c-Met and EGFR activity was quantified based on the phenotypic profiles induced by their respective ligands, hepatocyte growth factor and EGF. The screening method was applied to a novel collection of 80 putative inhibitors of c-Met and EGFR. Compounds were identified that induced phenotypic profiles indicative of selective inhibition of c-Met, EGFR, or bispecific inhibition of both targets. In conclusion, we describe a fully scalable high-content screening platform that uses phenotypic profiling to discriminate selective and nonselective (off-target) inhibitors in a physiologically relevant 3D cell culture setting.

  7. Beliefs Matter: Cultural Beliefs and the Use of Cervical Cancer-Screening Tests

    OpenAIRE

    Chavez, LR; Mcmullin, JM; Mishra, SI; Hubbell, FA

    2001-01-01

    In this article we examine the influence of cultural beliefs on behavior or, more specifically, beliefs about cervical cancer risk factors and the use of Pap exams. Individual Latinas' (Hispanic women) holding of beliefs similar to Latinas' generally (cultural consonance) did not significantly influence their use of Pap exams. Rather, structural factors such as medical insurance, age, marital status, education, and language acculturation explained Latinas' use of this medical service. However...

  8. Assessing Adipogenic Potential of Mesenchymal Stem Cells: A Rapid Three-Dimensional Culture Screening Technique

    Directory of Open Access Journals (Sweden)

    Jean F. Welter

    2013-01-01

    Full Text Available Bone-marrow-derived mesenchymal stem cells (MSCs have the potential to differentiate into a number of phenotypes, including adipocytes. Adipogenic differentiation has traditionally been performed in monolayer culture, and, while the expression of a fat-cell phenotype can be achieved, this culture method is labor and material intensive and results in only small numbers of fragile adherent cells, which are not very useful for further applications. Aggregate culture is a cell-culture technique in which cells are induced to form three-dimensional aggregates; this method has previously been used successfully, among others, to induce and study chondrogenic differentiation of MSCs. We have previously published an adaptation of the chondrogenic aggregate culture method to a 96-well plate format. Based on the success of this method, we have used the same format for the preparation of three-dimensional adipogenic cultures. The MSCs differentiate rapidly, the aggregates can be handled and processed for histologic and biochemical assays with ease, and the format offers significant savings in supplies and labor. As a differentiation assay, this method can distinguish between degrees of senescence and appears suitable for testing medium or drug formulations in a high-volume, high-throughput fashion.

  9. The role of culture in the context of school-based BMI screening.

    Science.gov (United States)

    Fitzgibbon, Marian L; Beech, Bettina M

    2009-09-01

    The high prevalence of overweight and obesity is a significant public health concern in the United States. Minority populations are disproportionately affected, and the impact of obesity on minority children is especially alarming. In this article we discuss school-based BMI reporting, which is intended to increase parental awareness of their children's weight status. This information could potentially lead parents of overweight and obese children to carefully examine and possibly change their children's diet and activity patterns. However, any program related to child weight status must consider culturally defined aspects of body size and shape. In other words, the cultural context in which information on child BMI is presented to and received by parents must be considered. In this article we review parental perceptions of child weight. Multiple studies have shown that parents of overweight or obese children often fail to correctly perceive their children as overweight. Possible reasons for, and implications of, this misperception of child weight status among minority parents are then explored within a cultural framework. The PEN-3 model is used to examine influences on health behaviors and could help inform the development of a culturally sensitive BMI-notification program for minority parents. Reporting materials congruent with the social and cultural values and practices of the target audience are likely to maximize program effectiveness. A culturally based BMI-notification program should be conceptualized as a small step in a comprehensive plan to reduce childhood obesity and improve the current and future health of minority children.

  10. Parallel experimental design and multivariate analysis provides efficient screening of cell culture media supplements to improve biosimilar product quality.

    Science.gov (United States)

    Brühlmann, David; Sokolov, Michael; Butté, Alessandro; Sauer, Markus; Hemberger, Jürgen; Souquet, Jonathan; Broly, Hervé; Jordan, Martin

    2017-07-01

    Rational and high-throughput optimization of mammalian cell culture media has a great potential to modulate recombinant protein product quality. We present a process design method based on parallel design-of-experiment (DoE) of CHO fed-batch cultures in 96-deepwell plates to modulate monoclonal antibody (mAb) glycosylation using medium supplements. To reduce the risk of losing valuable information in an intricate joint screening, 17 compounds were separated into five different groups, considering their mode of biological action. The concentration ranges of the medium supplements were defined according to information encountered in the literature and in-house experience. The screening experiments produced wide glycosylation pattern ranges. Multivariate analysis including principal component analysis and decision trees was used to select the best performing glycosylation modulators. Subsequent D-optimal quadratic design with four factors (three promising compounds and temperature shift) in shake tubes confirmed the outcome of the selection process and provided a solid basis for sequential process development at a larger scale. The glycosylation profile with respect to the specifications for biosimilarity was greatly improved in shake tube experiments: 75% of the conditions were equally close or closer to the specifications for biosimilarity than the best 25% in 96-deepwell plates. Biotechnol. Bioeng. 2017;114: 1448-1458. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  11. Prenatal detection of transposition of the great arteries reduces mortality and morbidity

    NARCIS (Netherlands)

    van Velzen, C. L.; Haak, M. C.; Reijnders, G.; Rijlaarsdam, M. E. B.; Bax, C. J.; Pajkrt, E.; Hruda, J.; Galindo-Garre, F.; Bilardo, C. M.; de Groot, C. J. M.; Blom, N. A.; Clur, S. A.

    2015-01-01

    Objectives To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre- and postsurgical mortality and morbidity. Methods In a geographical cohort study, all infants w

  12. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures

  13. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    2011-01-01

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures yieldi

  14. The Brazilian version of STarT Back Screening Tool - translation, cross-cultural adaptation and reliability

    Directory of Open Access Journals (Sweden)

    Bruna Pilz

    2014-10-01

    Full Text Available Background: Psychosocial factors are not routinely identified in physical therapy assessments, although they can influence the prognosis of patients with low back pain. The "STarT Back Screening Tool" (SBST questionnaire aids in screening such patients for poor prognosis in the primary care setting and classifies them as high, medium, or low risk based on physical and psychosocial factors. Objectives: This study sought to translate and cross-culturally adapt the SBST to the Brazilian Portuguese language and test the reliability of the Brazilian version. Method: The first stage of the study consisted of the translation, synthesis, and back-translation of the original version of the STSB, including revision by the Translation Group, pretest of the translated version, and assessment by an expert panel. The pre-final Brazilian version was applied to 2 samples comprising 52 patients with low back pain; these patients were of both genders and older than 18 years of age. To assess the instrument's reliability, an additional sample comprising 50 patients was subjected to 2 interviews, and the results were assessed using the quadratic weighted kappa value. The instrument's internal consistency was assessed using Cronbach's alpha (n=105, and the standard error of measurement was also calculated (n=50. Results: Translation and back-translation attained consensus, and only item 6 required changes; the reformulated version was applied to an additional sample comprising 52 individuals who did not report any doubts related to this item. The reliability of the SBST-Brazil was 0.79 (95% confidence interval: 0.63-0.95, the internal consistency was 0.74 for the total score and 0.72 for the psychosocial subscale, and the standard error of measurement was 1.9%. Conclusion: The translated and cross-culturally adapted SBST-Brazil proved to be reliable for screening patients according to their risk of poor prognosis and the presence of psychosocial factors.

  15. Cystic Fibrosis: Prenatal Screening and Diagnosis

    Science.gov (United States)

    ... other disorders are chorionic villus sampling (CVS) and amniocentesis (see FAQ164 "Diagnostic Tests for Birth Defects" ). CVS ... be performed after 9 completed weeks of pregnancy. Amniocentesis can be performed between 15 weeks and 20 ...

  16. Evaluation of culture media for the production of secondary metabolites in a natural products screening program.

    Science.gov (United States)

    Vandermolen, Karen M; Raja, Huzefa A; El-Elimat, Tamam; Oberlies, Nicholas H

    2013-12-17

    Variation in the growing environment can have significant impacts on the quantity and diversity of fungal secondary metabolites. In the industrial setting, optimization of growing conditions can lead to significantly increased production of a compound of interest. Such optimization becomes challenging in a drug-discovery screening situation, as the ideal conditions for one organism may induce poor metabolic diversity for a different organism. Here, the impact of different media types, including six liquid media and five solid media, on the secondary metabolite production of three fungal strains was examined in the context of the drug-discovery screening process. The relative production of marker compounds was used to evaluate the usefulness and reliability of each medium for the purpose of producing secondary metabolites.

  17. High-Throughput Screening for Bioactive Molecules Using Primary Cell Culture of Transgenic Zebrafish Embryos

    Directory of Open Access Journals (Sweden)

    Haigen Huang

    2012-09-01

    Full Text Available Transgenic zebrafish embryos expressing tissue-specific green fluorescent protein (GFP can provide an unlimited supply of primary embryonic cells. Agents that promote the differentiation of these cells may be beneficial for therapeutics. We report a high-throughput approach for screening small molecules that regulate cell differentiation using lineage-specific GFP transgenic zebrafish embryonic cells. After validating several known regulators of the differentiation of endothelial and other cell types, we performed a screen for proangiogenic molecules using undifferentiated primary cells from flk1-GFP transgenic zebrafish embryos. Cells were grown in 384-well plates with 12,128 individual small molecules, and GFP expression was analyzed by means of an automated imaging system, which allowed us to screen thousands of compounds weekly. As a result, 23 molecules were confirmed to enhance angiogenesis, and 11 of them were validated to promote the proliferation of mammalian human umbilical vascular endothelial cells and induce Flk1+ cells from murine embryonic stem cells. We demonstrated the general applicability of this strategy by analyzing additional cell lineages using zebrafish expressing GFP in pancreatic, cardiac, and dopaminergic cells.

  18. Prenatal serum screening among pregnant women at second-trimester in Taizhou region%台州地区孕妇孕中期母血清产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    石卫武; 干灵红; 章鸯; 徐丹萍; 陈雪娇; 章卫国; 戴美珍; 周美英

    2013-01-01

    Objective To investigate the clinical value of second trimester maternal serum screening for Down's syndrome(DS) ,18-trisomy syndrome,and neural tube defects(NTD). Methods The serum markers(alpha-fetoprotein [AFP] and beta human chroionic gonadotrophin[ β-HCG]) were detected in 120 309 pregnant women at second trimes-ter( 15 -21 weeks) with time-resolved fluorescence immunoassay (DELFTA). The detection data were analyzed with Lifecycle 3. 0 software. Results There were 5 022 pregnant women identified as at high-risk, with a positive rate of 4. 17% . Amniotic fluid or umbilical cord blood puncture was conducted among 79. 51% of the women with high risk of DS and 18-trisomy syndrome(3 573/4 494). There were 49(1. 37% ) cases of abnormal fetal karyotype, 22 cases of DS,6 cases of 18-trisomy syndrome,and 21 cases of other abnormal karyotype. In high-risk pregnant women who were younger or older than 35 years,the abnormal karyotype detection rate was 1. 37% . Conclusion Second trimester maternal serum markers( AFP and (3-HCG) detection is efficient in prenatal screening for DS,18-trisomy syndrome,and NTD.%目的 探讨孕中期母血清产前筛查系统对唐氏综合征(DS)和18-三体综合征及神经管畸形(NTD)检出的临床应用价值.方法 应用时间分辨荧光免疫分析技术(DELFIA)对120 309名孕中期(15 ~21周)孕妇进行血清标记物甲胎蛋白+游离人绒毛膜促性腺激素(AFP+ free β-HCG)两联指标检测,筛查结果应用Lifecycle3.0软件进行出生缺陷风险评估.结果 120 309名孕中期孕妇筛查出高风险孕妇5 022例,阳性率为4.17%;4 494例21-三体综合征和18-三体综合征高风险孕妇中有3 573例接受羊水或脐血穿刺产前诊断,占79.51%,发现胎儿核型异常49例,异常检出率为1.37%,其中DS 22例、18-三体综合征6例、其他异常核型21例.结论 孕中期母血清标记物两联指标的产前筛查是预测DS和18-三体综合征、NTD的有效指标.

  19. Significance evaluation of thyroid stimulating hormone in prenatal screening%早孕期孕妇促甲状腺激素检测临床意义研究

    Institute of Scientific and Technical Information of China (English)

    黄之虎; 黄翠波; 黄小明; 贾绍府

    2014-01-01

    目的:探讨孕21-三体综合征胎儿、孕18-三体综合征胎儿和孕健康胎儿孕妇早孕期血清促甲状腺激素(TSH)水平和游离β-人绒毛膜促性腺激素(β-hCG)之间的关系,评价TSH用于早孕期产前筛查的临床价值。方法分别比较26例孕21-三体综合征胎儿、19例孕18-三体综合征胎儿和6782例孕健康胎儿孕妇孕11~13周时的血清TSH和游离β-hCG水平。结果孕21-三体综合征胎儿孕妇血清 TSH 水平较低(0.72±0.31MoM),而孕18-三体综合征胎儿孕妇血清TSH水平较高(1.48±0.57 MoM)。孕健康胎儿孕妇血清TSH和游离β-hCG水平具有负相关性(r=-0.214,P<0.05),但在孕染色体非整倍体胎儿孕妇体内,二者无相关性(孕21-三体综合征胎儿孕妇:r=-0.157,P>0.05;孕18-三体综合征胎儿孕妇:r=-0.176,P>0.05)。结论早孕期筛查 TSH 并不能有效提高21-三体综合征胎儿和18-三体综合征胎儿的检出率。%Objective To explore the relationship between thyroid stimulating hormone (TSH)and freeβ-hu-man chorionic gonadotropin (β-hCG)in maternal serum of trisomy 2 1 ,trisomy 1 8 and euploid pregnancies at 1 1-1 3 weeks and evaluate the potential value of TSH in first-trimester prenatal screening.Methods Maternal serum levels of TSH and freeβ-hCG at 11-13 weeks in 26 cases of trisomy 21 and 19 cases of trisomy 18 pregnancies were com-pared with levels in 6 782 cases of unaffected pregnancies.Results The trisomy 21 pregnancies were with lower ma-ternal serum levels of TSH (0.72±0.31 MoM)and the trisomy 18 pregnancies were with higher maternal serum levels of TSH (1.48 ±0.57 MoM).There were significant associations between TSH and freeβ-hCG in the unaf-fected pregnancies (r=-0.214,P0.05)or trisomy 18 (r=-0.176,P>0.05).Conclusion Measurement of TSH could not improve the performance of screening for tri-somy 21 and trisomy 18.

  20. 福建省莆田地区地中海贫血的产前筛查和基因诊断研究%Prenatal Screening and Genetic Diagnosis of the Mediterranean Anemia in Putian Region, Fujian

    Institute of Scientific and Technical Information of China (English)

    林华; 俞柳敏; 林素霞; 王志萍

    2016-01-01

    目的:调查莆田地区孕妇地中海贫血基因类型及分布情况。方法对2014年1月至2015年12月在我院门诊产检的5618例孕妇进行血常规筛查,经MCV、 MCH初步筛查后,阳性指征者进行基因分析。结果5618例孕妇中,130例确诊为地中海贫血,比例为2.31%。α地中海贫血共检出5种基因型,最常见基因型为———SEA (62例),占比47.69%;—α3.7(13例),占比10.0%。β地中海贫血50例,比例为0.91%,共检出7种基因型,最常见的有IVS-II-654/N (28例)占比21.54%、 CD41-42/N (10例)占比7.69%和CD17/N (5例)占比3.84%。结论明确莆田地区地中海贫血分布规律,加强产前筛查和诊断,预防重型地中海贫血患儿出生,提高人口素质。%Objective To investigate the genotypes of Mediterranean anemia and the distribution situation of pregnant women in putian region. Methods 5 618 cases who took the pregnancy check-ups in the outpatient clinic of our hospital were filtrated based on Blood-RT. According to the result of preliminary screening of MCV and MCH, Gene analysis of cases with positive indication were un-dertaken. Results Among 5 618 cases of pregnant women, 130 cases were diagnosed with the Mediterranean anemia, accounting for 2. 31%. 5 genotypes were detected of α Mediterranean anemia, among which ———SEA (62 cases) is the most common genotype ac-counting for 47. 69%, —α3. 7 (13 cases) accounting for 10. 0%. There were 50 cases of β Mediterranean anemia, accounting for 0. 91%. A total of 7 genotypes were detected. The most common one is IVS - II - 654 / N (28 cases) accounting for 21. 54%, CD41-42 / N (10 cases) accounting for 7. 69% and CD17 / N (5 cases) accounting for 3. 84%. Conclusion Make the distribution regularities of the Mediterranean anemia in putian region clear, strengthen the prenatal screening and diagnosis, prevent the birth of infants with heavy Mediterranean anemia and improve population quality.

  1. 妊娠中期血清标记物检测在唐氏综合症产前筛查中的探讨%To investigate the serum marker pregnancy detection in prenatal screening for Down syndrome

    Institute of Scientific and Technical Information of China (English)

    袁晃堆

    2015-01-01

    Objective:To study the analysis of second trimester maternal serum marker for prenatal screening of Down's syndrome and the significance. Methods:The selection of 2012.10-2013.10 in our hospital during the application of resolution immunofluorescence assay was used to detect 2468 cases of 15-20+6 weeks pregnant women were detected serum Free-, P-HCG, AFP markers and content, combined with maternal age, gestational weeks, single twins, smoking history, body mass, whether patients with diabetes, previous factors without abnormal pregnancy history, the use of Life Cycle 3 version of the system risk assessment.Results:The 2468 cases of pregnant women, screening out the abnormal chromosome 138 cases of pregnant women with high risk pregnancy, including 34 cases of pregnant women were amniocentesis antenatal examination, diagnosis of Down syndrome (English referred to as DS) in 8 cases, 1 cases of trisomy 18-syndrome, 4 cases of other fetal chromosomal abnormalities. DS maternal fetal blood AFP, free three female alcohol content was significantly lower than that in normal pregnant women;Free-beta-HCG was significantly higher than that of normal pregnant women, the difference was statistical y significant P<0.05. Trisomy 18-fetal maternal blood AFP, free three female alcohol, Free-beta-HCG was obviously lower than that of normal pregnant women, the difference was statistical y significant P<0.05. Conclusions:The second trimester serum marker examination can be used as an important index prediction of fetal chromosomal abnormalities, and take effective measures in a timely manner through the prenatal diagnosis, can significantly reduce the birth defects, to help students work.%目的:研究分析妊娠中期血清标记物在产前筛查唐氏综合症的意义。方法:择取2012.10-2013.10期间在我院应用实践分辨免疫荧光法检测的2468例孕15-20+6周的孕妇,均进行血清Free-β-HCG、AFP标记物含量检测,并结合孕妇的年龄、孕周

  2. Your First Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  3. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  4. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  5. Engineering cell-compatible paper chips for cell culturing, drug screening, and mass spectrometric sensing.

    Science.gov (United States)

    Chen, Qiushui; He, Ziyi; Liu, Wu; Lin, Xuexia; Wu, Jing; Li, Haifang; Lin, Jin-Ming

    2015-10-28

    Paper-supported cell culture is an unprecedented development for advanced bioassays. This study reports a strategy for in vitro engineering of cell-compatible paper chips that allow for adherent cell culture, quantitative assessment of drug efficiency, and label-free sensing of intracellular molecules via paper spray mass spectrometry. The polycarbonate paper is employed as an excellent alternative bioscaffold for cell distribution, adhesion, and growth, as well as allowing for fluorescence imaging without light scattering. The cell-cultured paper chips are thus amenable to fabricate 3D tissue construction and cocultures by flexible deformation, stacks and assembly by layers of cells. As a result, the successful development of cell-compatible paper chips subsequently offers a uniquely flexible approach for in situ sensing of live cell components by paper spray mass spectrometry, allowing profiling the cellular lipids and quantitative measurement of drug metabolism with minimum sample pretreatment. Consequently, the developed paper chips for adherent cell culture are inexpensive for one-time use, compatible with high throughputs, and amenable to label-free and rapid analysis.

  6. Screening of biofilm formation by beneficial vaginal lactobacilli and influence of culture media components.

    Science.gov (United States)

    Terraf, M C Leccese; Juárez Tomás, M S; Nader-Macías, M E F; Silva, C

    2012-12-01

    To assess the ability of vaginal lactobacilli to form biofilm under different culture conditions and to determine the relationship between their growth and the capability of biofilm formation by selected strains. Fifteen Lactobacillus strains from human vagina were tested for biofilm formation by crystal violet staining. Only Lactobacillus rhamnosus Centro de Referencia para Lactobacilos Culture Collection (CRL) 1332, Lact. reuteri CRL 1324 and Lact. delbrueckii CRL 1510 were able to grow and form biofilm in culture media without Tween 80. However, Lact. gasseri CRL 1263 (a non-biofilm-forming strain) did not grow in these media. Scanning electron microscopy showed that Lact. rhamnosus CRL 1332 and Lact. reuteri CRL 1324 formed a highly structured biofilm, but only Lact. reuteri CRL 1324 showed a high amount of extracellular material in medium without Tween. Biofilm formation was significantly influenced by the strain, culture medium, inoculum concentration, microbial growth and chemical nature of the support used for the assay. The results allow the selection of biofilm-forming vaginal Lactobacillus strains and the conditions and factors that affect this phenomenon. © 2012 The Society for Applied Microbiology.

  7. Infección prenatal

    OpenAIRE

    Pastor Durán, Xavier

    1986-01-01

    Protocolos terapeuticos. Infección prenatal. Riesgo de infección prenatal. La infección prenatal requiere un alto índice de sospecha, ya que no siempre, los antecedentes se hallan presentes bien porque faltan o bien porque hayan pasado desapercibidos. Dentro del concepto de infección prenatal se encuentran las englobadas en el acrónimo Torches (toxoplasmosis, rubeola, citomegalovirosis, herpes o sífilis) )...

  8. Organotypic Culture of Breast Tumor Explants as a Multicellular System for the Screening of Natural Compounds with Antineoplastic Potential

    Science.gov (United States)

    Carranza-Torres, Irma Edith; Guzmán-Delgado, Nancy Elena; Coronado-Martínez, Consuelo; Bañuelos-García, José Inocente; Viveros-Valdez, Ezequiel; Morán-Martínez, Javier; Carranza-Rosales, Pilar

    2015-01-01

    Breast cancer is the leading cause of death in women worldwide. The search for novel compounds with antitumor activity, with less adverse effects and higher efficacy, and the development of methods to evaluate their toxicity is an area of intense research. In this study we implemented the preparation and culture of breast tumor explants, which were obtained from precision-cut breast tumor slices. In order to validate the model we are proposing to screen antineoplastic effect of natural compounds, we selected caffeic acid, ursolic acid, and rosmarinic acid. Using the Krumdieck tissue slicer, precision-cut tissue slices were prepared from breast cancer samples; from these slices, 4 mm explants were obtained and incubated with the selected compounds. Viability was assessed by Alamar Blue assay, LDH release, and histopathological criteria. Results showed that the viability of the explants cultured in the presence of paclitaxel (positive control) decreased significantly (P < 0.05); however, tumor samples responded differently to each compound. When the explants were coincubated with paclitaxel and compounds, a synergic effect was observed. This study shows that ex vivo culture of breast cancer explants offers a suitable alternative model for evaluating natural or synthetic compounds with antitumor properties within the complex microenvironment of the tumor. PMID:26075250

  9. Organotypic Culture of Breast Tumor Explants as a Multicellular System for the Screening of Natural Compounds with Antineoplastic Potential

    Directory of Open Access Journals (Sweden)

    Irma Edith Carranza-Torres

    2015-01-01

    Full Text Available Breast cancer is the leading cause of death in women worldwide. The search for novel compounds with antitumor activity, with less adverse effects and higher efficacy, and the development of methods to evaluate their toxicity is an area of ​​intense research. In this study we implemented the preparation and culture of breast tumor explants, which were obtained from precision-cut breast tumor slices. In order to validate the model we are proposing to screen antineoplastic effect of natural compounds, we selected caffeic acid, ursolic acid, and rosmarinic acid. Using the Krumdieck tissue slicer, precision-cut tissue slices were prepared from breast cancer samples; from these slices, 4 mm explants were obtained and incubated with the selected compounds. Viability was assessed by Alamar Blue assay, LDH release, and histopathological criteria. Results showed that the viability of the explants cultured in the presence of paclitaxel (positive control decreased significantly (P<0.05; however, tumor samples responded differently to each compound. When the explants were coincubated with paclitaxel and compounds, a synergic effect was observed. This study shows that ex vivo culture of breast cancer explants offers a suitable alternative model for evaluating natural or synthetic compounds with antitumor properties within the complex microenvironment of the tumor.

  10. Analysis of culture media screening data by projection to latent pathways: The case of Pichia pastoris X-33.

    Science.gov (United States)

    Isidro, Inês A; Ferreira, Ana R; Clemente, João J; Cunha, António E; Oliveira, Rui

    2016-01-10

    Cell culture media formulations contain hundreds of individual components in water solutions which have complex interactions with metabolic pathways. The currently used statistical design methods are empirical and very limited to explore such a large design space. In a previous work we developed a computational method called projection to latent pathways (PLP), which was conceived to maximize covariance between envirome and fluxome data under the constraint of metabolic network elementary flux modes (EFM). More specifically, PLP identifies a minimal set of EFMs (i.e., pathways) with the highest possible correlation with envirome and fluxome measurements. In this paper we extend the concept for the analysis of culture media screening data to investigate how culture medium components up-regulate or down-regulate key metabolic pathways. A Pichia pastoris X-33 strain was cultivated in 26 shake flask experiments with variations in trace elements concentrations and basal medium dilution, based on the standard BSM+PTM1 medium. PLP identified 3 EFMs (growth, maintenance and by-product formation) describing 98.8% of the variance in observed fluxes. Furthermore, PLP presented an overall predictive power comparable to that of PLS regression. Our results show iron and manganese at concentrations close to the PTM1 standard inhibit overall metabolic activity, while the main salts concentration (BSM) affected mainly energy expenditures for cellular maintenance.

  11. 彩色多普勒超声在非高危胎儿产前心脏筛查中的临床价值%Clinical value of color Doppler ultrasound in prenatal cardiac screening of non-high risk fetus

    Institute of Scientific and Technical Information of China (English)

    彭雪芳; 余卫国; 杨淑君

    2013-01-01

    Objective To investigate the clinical diagnostic value of color Doppler ultrasound in prenatal cardiac screening of non-high risk fetus, so as to reduce the birth rate of neonate with congenital heart disease and peri-neonate mortality as much as possible.Methods The clinical materials of 3780 non-high risk fetus in gestational period of 18-24 weeks monitored in the 421st Hospital of PLA from July 2009 to December 2011 were retrospectively analyzed.These fetuses were screened by combination of left and right ventricular outflow tract section, and four-chamber heart section methods.Results Confirmed by induced labor fetus autopsy and post-natal follow-up, 26 fetus with congenital heart disease were founded (including 12 cases of severe congenital heart disease), the overall incidence of cardiac malformations was 6.9‰; twenty-four cases were confirmed by prenatal Doppler ultrasound screening, two cases (1 case of tetralogy of Fallot, 1 case of ventricular septal defect) were missed, prenatal ultrasound detection rate of 92.3%.Conclusion Color Doppler ultrasound can obtain satisfactory fetal heart sonographic image with clear fetal heart structure, can detect most fetal cardiac malformations, is the preferred method of prenatal screening for fetal congenital heart disease, and has important clinical value in non-high-risk prenatal fetal heart screening.%目的 探讨彩色多普勒超声在非高危胎儿产前心脏筛查中的临床诊断价值,以便尽可能地降低先天性心脏病患儿的出生率及围生儿死亡率.方法 回顾性分析2009年6月~2011年12月解放军第四二一医院联合应用左、右室流出道切面和四腔心切面法对孕18~24周的非高危胎儿进行心脏筛查的3780例临床资料.结果 经引产尸解及产后随访证实,本组共检出先天性心脏病胎儿26例(其中严重先天性脏病12例),心脏畸形的总发生率为6.9‰.24例经产前多普勒超声筛查检出,漏诊2例(法洛四联症1

  12. 孕早、中期血清标志物筛查和介入性产前诊断的临床应用与分析%Clinical application and analysis on serum markers screening during the first and second trimester of pregnancy and interventional prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    徐两蒲; 林元; 范向群; 郑琳; 吴小青; 黄海龙; 何德钦; 李英; 林娜; 王林铄

    2011-01-01

    Objective: To explore the clinical application values of prenatal screening during the first and second trimester of pregnancy and prenatal diagnosis in preventing and reducing chromosomal diseases and congenital birth defect, further promote the increase of the work. Methods; Time - resolved immunoflourometric assay was used to detect double serum markers of pregnancy associated plasma protein A ( PAPP - A) and free β - human chorionic gonadotropin ( HCG) among the pregnant women during the first trimester of pregnancy (9-13 gestational weeks) , triple serum markers of alpha fetoprotein (AFP) , free β - HCC and unconjugated estriol among the pregnant women during the second trimester of pregnancy (15-20 gestational weeks) ; the pregnant women with high risk of prenatal screening and other high risk indications received interventional prenatal diagnosis, including fetal chromosomal analysis of villi, amniotic fluid and umbilical blood; the pregnant women with high risk of patent neural tube defect (NTD) were diagnosed definitely by color Doppler ultrasound. Results; A-mong 66 852 patients receiving prenatal serum screening, the total positive rate of high risk was 6.1%. Among 4 427 patients receiving interventional prenatal diagnosis, the abnormal rate was 5.0%. Among 324 patients with high risk of NTD who were diagnosed definitely by color Doppler ultrasound, the confirmed diagnosis rate was 8.3%. 48 patients were found with trisomy 21 syndrome, 33 patients were found with trisomy 18 syndrome, 12 patients were found with trisomy 13 syndrome, 27 patients were found with NTD and 127 patients were found with other numerical abnormalities of chromosomes and structural abnormalities of chromosomes. Among various indications of prenatal diagnosis, the detection rates of chromosomal diseases in chromosomal abnormality carriers group, trisomy 18 syndrome high risk group and B -ultrasound indicated fetal anomaly group were significantly higher than those in the other

  13. Recognition of Staphylococcus saprophyticus in urine cultures by screening colonies for production of phosphatase.

    Science.gov (United States)

    Pickett, D A; Welch, D F

    1985-01-01

    Phenolphthalein diphosphate was incorporated into a primary blood agar medium for use in performing quantitative urine cultures. Phosphatase-negative staphylococci, such as Staphylococcus saprophyticus, were differentiated from phosphatase-positive species, such as Staphylococcus epidermidis, by spot testing colonies on filter paper saturated with 1 N NaOH. Phosphatase-positive colonies turned pink within seconds, and phosphatase-negative colonies showed no color. None of 55 S. saprophyticus isolates showed production of phosphatase on this medium. Of 193 consecutive coagulase-negative staphylococci isolated from the urine of 190 adolescent female patients, 84% were phosphatase positive, non-S. saprophyticus species; 16% were phosphatase-negative and indicated S. saprophyticus (22), Staphylococcus haemolyticus (4), Staphylococcus simulans (2), Staphylococcus warneri (1), and Staphylococcus hominis (1). Phosphatase activity was variable in the other flora encountered in the urine cultures. Mixtures of phosphatase-positive and -negative organisms did not cause false-positive reactions. PMID:2984240

  14. Prospects for the use of animal cell cultures in screening of pharmaceutical substances

    Science.gov (United States)

    Kolesnikova, S. G.; Moiseeva, I. Y.

    2017-01-01

    Currently, there is a tendency to reduce the use of animals in conducting safety tests of chemical substances. Therefore, in vitro methods are a good alternative or adjunct to in vivo safety tests. This is especially important at the stage of pre-clinical drug trial. In 2004, the international standard for the principles of good laboratory practice (GLP) [1] was adopted which regulates chemicals trials in cell cultures. However, in Russia, until recently, this issue has been neglected. Research works have been scarce. In 2013, the standard for GLP principles and compliance monitoring was adopted in Russia [2]. The feasibility of using animal cell cultures as drug testing system has been proved by the experimental base and is now being introduced into practice [3].

  15. Cultural Concerns when Counseling Orthodox Jewish Couples for Genetic Screening and PGD.

    Science.gov (United States)

    Grazi, Richard V; Wolowelsky, Joel B

    2015-12-01

    There is a spectrum of attitudes within the Orthodox Jewish community towards genetic testing and PGD. Increased understanding of the belief systems of the Orthodox Jewish population will enhance the genetic counselors' ability to better serve this unique group of patients. By improving cultural competence, genetic counselors can help patients choose the testing options that they deem appropriate, while simultaneously respecting the patient's belief system.

  16. Application of middle and late pregnancy amniotic cell culture united to FISH in prenatal diagnosis%中晚孕期羊水细胞培养联合FISH在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    张建芳; 徐慧; 燕凤; 陈必良

    2011-01-01

    Objective: To investigate the application value of improved amniotic cell culture united to FISH (fluorescente in situ hybridization) in prenatal diagnosis of middle and late pregnancy. Methods; 71 gravida possessing prenatal diagnosis indication ac-cepted improved amniotic cell culture and FISH to analyze fetal karyotype. Gestational weeks were among 25 to 39. Results:Achieve-ment ratio of cell culture and FISH were both up to 100%. 8 abnormal karyotype were found, including 3 trisomy 18,1 trisomy 13, 1 Trisomy X, 1 heterosome chimera, one each in chromosomal 4 and 9 pericentric inversion. Coincidence rate of karyotype and FISH was 100% , except pericentric inversion because of which exceeding detection limit of FISH. Conclusion: Amniotic cell culture and karyo-type analysis acciciated FISH was feasible in comparatively large gestational weeks. It can diagnose chromosomal disorder quickly and exactly, and extend the time window of amniocentesis, cut down the risk of venipuncture.%目的 探讨改良的羊水细胞培养技术联合荧光原位杂交( FISH)对中晚孕期孕妇进行产前诊断的应用价值.方法 改进培养方法、建立收获标准、改良染色体制备过程,对71例孕25 - 39 w具有产前诊断指征的孕妇进行羊水细胞培养并联合FISH进行核型分析.结果 羊水细胞培养和FISH分析成功率均为100%.发现异常核型8例,异常比例为11.3%.其中18三体3例,13三体1例,47,XXX 1例,4号和9号染色体臂间倒位各1例,46,XY/45,X0嵌合体1例;除4号和9号染色体臂间倒位不在FISH检测范围外,其余6个染色体异常FISH与核型均同时检出,两者符合率100%.结论较大孕周同样可以进行羊水细胞培养和染色体分析,联合FISH可快捷明确地诊断染色体病,使羊膜腔穿刺进行产前诊断的时间窗延长,降低脐静脉穿刺率和风险.

  17. Antibiotic Screening of Urine Culture for Internal Quality Audit at Amrita Hospital, Kochi.

    Science.gov (United States)

    Suresh, Aswathy; Gopinathan, Anusha; Dinesh, Kavitha R; Kumar, Anil

    2017-07-01

    Urine antimicrobial activity is a seldom analysed laboratory test which greatly impacts the quantification of urine specimens. Presence of antimicrobial activity in the urine reduces the bacterial load in these specimens. Hence, the chances of erroneously reporting insignificant bacteriuria can be reduced on analysis of the antimicrobial activity in urine. The aim of the study was to measure the antimicrobial activity of urine samples obtained from patients in a tertiary care hospital. A total of 100 urine specimens were collected from the study group. Tests like wet mount, Gram staining and culture were performed. Antimicrobial susceptibility testing was done on the bacteria isolated from each specimen. The urine specimens were reported as significant bacteriuria (>105 Colony Forming Unit (CFU)/ml) and insignificant bacteriuria (<105 CFU/ml - clean catch midstream urine; <102 CFU/ml - catheterized urine sample) according to the CFU/ml. Staphylococcus aureus ATCC(®) 25923(™) and Escherichia coli ATCC(®) 25922(™) were used to identify the presence of antimicrobial activity in the urine sample by Urine Anti-Bacterial substance Assay (UABA). McNemar test was used for statistical analysis using Statistical Package for the Social Sciences (SPSS) version 21.0. On analysis of the antimicrobial activity of urine sample with the prior antibiotic history of the patients, 17 were true positives and 43 were true negatives. Twenty six of samples with UABA positivity were culture negative and 28 samples with UABA positivity were culture positive. Sensitivity and specificity of the test was 85% and 53.8% respectively. Accuracy of the test was 60%. The p-value of UABA was <0.001. Enterobacteriaceae was the most common bacterial family isolated from the urine specimens. A total of 85% patients responded to treatment. Presence of antimicrobial activity in urine has a great impact on the interpretation of urine culture reports. Identification of urine antimicrobial activity

  18. Sulindac attenuates valproic acid-induced oxidative stress levels in primary cultured cortical neurons and ameliorates repetitive/stereotypic-like movement disorders in Wistar rats prenatally exposed to valproic acid.

    Science.gov (United States)

    Zhang, Yinghua; Yang, Cailing; Yuan, Guoyan; Wang, Zhongping; Cui, Weigang; Li, Ruixi

    2015-01-01

    Accumulating evidence suggests that anti-inflammatory agents and antioxidants have neuroprotective properties and may be beneficial in the treatment of neurodevelopental disorders, such as autism. In the present study, the possible neuroprotective properties of sulindac, a non-steroidal anti-inflammatory drug (NSAID), were investigated in vitro using cultured cortical neurons with valproic acid (VPA)-induced neurotoxicity, as well as in vivo through the behavioral analysis of rats prenatally exposed to VPA as a model of autism. VPA induced 4-hydroxynonenal (4-HNE) expression, reactive oxygen species (ROS) generation and decreased cell viability in primary cultured cortical neurons established from timed-pregnant (embryonic day 18) Wistar rat pups. However, co-incubation of the neurons with VPA and sulindac reduced oxidative stress and increased cell viability. The rats were administered an intraperitoneal injection with one of the following: VPA, sulindac, VPA and sulindac, or physiological saline, and their offspring were subjected to the open field test. During the test trials, repetitive/stereotypic-like movements for each rat were recorded and analyzed. The results revealed that treatment with both sulindac and VPA reduced the VPA-induced repetitive/stereotypic-like activity and the sulindac and VPA-treated animals responded better in the open field test compared to the VPA-treated animals. The results from the present study demonstrate that the antioxidant properties of sulindac may prove to be beneficial in the treatment of autism, suggesting that the upregulation of the Wnt/β-catenin signaling pathway disrupts oxidative homeostasis and facilitates susceptibility to autism.

  19. Screening on DHA-producing Antarctic bacteria N- 6 and its cultural conditions

    Institute of Scientific and Technical Information of China (English)

    Zhang Botao; Miao Jin-lai; Hui Hanxing; Wang Qing

    2006-01-01

    In Antarctic, the geography and climate differs from those in other places,and the bacteria there have adapted well to the environment there. Two hundred strains of bacteria were isolated from the sea ice in Antarctica. The bacteria were screened for DHA by means of GC, with fish oil as the standard. Seven strains containing DHA or EPA were obtained, among which the strain of No. N-6 was outstanding. And the component of DHA was identified by GC-MS. The relative content of DHA in N-6 was 8.72%, and total lipids in dry bacteria was 22.54%. The effects of some factors, including temperature, salinity and pH value, on the growth and DHAcontent of strain N-6 were studied. The results show that the DHA-content is relatively high when in low temperature and high pH, and the bacterium is psychrophilic, alkalophilic.

  20. Lung fibrosis: drug screening and disease biomarker identification with a lung slice culture model and subtracted cDNA Library.

    Science.gov (United States)

    Guo, Tong; Lok, Ka Yee; Yu, Changhe; Li, Zhuo

    2014-09-01

    Pulmonary fibrosis is a progressive and irreversible disorder with no appropriate cure. A practical and effective experimental model that recapitulates the disease will greatly benefit the research community and, ultimately, patients. In this study, we tested the lung slice culture (LSC) system for its potential use in drug screening and disease biomarker identification. Fibrosis was induced by treating rat lung slices with 1ng/ml TGF-β1 and 2.5μM CdCl2, quantified by measuring the content of hydroxyproline, and confirmed by detecting the expression of collagen type III alpha 1 (Col3α1) and connective tissue growth factor (CTGF) genes. The anti-fibrotic effects of pirfenidone, spironolactone and eplerenone were assessed by their capability to reduce hydroxyproline content. A subtractive hybridisation technique was used to create two cDNA libraries (subtracted and unsubtracted) from lung slices. The housekeeping gene glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was employed to assess the subtraction efficiency of the subtracted cDNA library. Clones from the two libraries were sequenced and the genes were identified by performing a BLAST search on the NCBI GenBank database. Furthermore, the relevance of the genes to fibrosis formation was verified. The results presented here show that fibrosis was effectively induced in cultured lung slices, which exhibited significantly elevated levels of hydroxyproline and Col3α1/CTGF gene expression. Several inhibitors have demonstrated their anti-fibrotic effects by significantly reducing hydroxyproline content. The subtracted cDNA library, which was enriched for differentially expressed genes, was used to successfully identify genes associated with fibrosis. Collectively, the results indicate that our LSC system is an effective model for the screening of drug candidates and for disease biomarker identification.

  1. Ex vivo transfection of trout pronephros leukocytes, a model for cell culture screening of fish DNA vaccine candidates.

    Science.gov (United States)

    Ortega-Villaizan, M; Martinez-Lopez, A; Garcia-Valtanen, P; Chico, V; Perez, L; Coll, J M; Estepa, A

    2012-09-07

    DNA vaccination opened a new era in controlling and preventing viral diseases since DNA vaccines have shown to be very efficacious where some conventional vaccines have failed, as it occurs in the case of the vaccines against fish novirhabdoviruses. However, there is a big lack of in vitro model assays with immune-related cells for preliminary screening of in vivo DNA vaccine candidates. In an attempt to solve this problem, rainbow trout pronephros cells in early primary culture were transfected with two plasmid DNA constructions, one encoding the green fluorescent protein (GFP) and another encoding the viral haemorrhagic septicaemia virus (VHSV) glycoprotein G (G(VHSV)) - the only viral antigen which has conferred in vivo protection. After assessing the presence of GFP- and G(VHSV)-expressing cells, at transcription and protein levels, the immune response in transfected pronephros cells was evaluated. At 24h post-transfection, G(VHSV) up-regulated migm and tcr transcripts expression, suggesting activation of B and T cells, as well, a high up-regulation of tnfα gene was observed. Seventy-two hours post-transfection, we detected the up-regulation of mx and tnfα genes transcripts and Mx protein which correlated with the induction of an anti-VHSV state. All together we have gathered evidence for successful transfection of pronephros cells with pAE6G, which correlates with in vivo protection results, and is less time-consuming and more rapid than in vivo assays. Therefore, this outcome opens the possibility to use pronephros cells in early primary culture for preliminary screening fish DNA vaccines as well as to further investigate the function that these cells perform in fish immune response orchestration after DNA immunisation.

  2. Screening of Fungal Strains Grown in Solid-state Culture for Production of Pectinase from Coffee Husk

    Directory of Open Access Journals (Sweden)

    Na Thi Ty Ngo

    2016-05-01

    Full Text Available Eighty percent of Vietnamese coffee production can be found in Central Highlands (Tay Nguyen. This paper describes a screening of fungi strains isolated from coffee husk waste collected in Dak Lak province, Tay Nguyen, for pectinase production. It was found that 17 different fungi strains were isolated from samples of 11 coffee farms. Among them. there were only 9 trains which could hydrolyze pectin. The diameter of the hydrolysis halo around fungi colonies in Pectinase Screening Agar Medium (PSAM was measured as an indicator to assess the pectinase activity. Phylogenetic analysis based on 28S rRNA gene sequences showed that detected Rhizopus oryzae. Aspergillus oryzae and Hypocrea pseudokoningii were those giving the largest holo zones. Hypocrea pseudokoningii presented the best pectinase activity of 657.16 UI/g and was chosen for biomass production to collect enzyme. In a further study, effect of rice bran addition to coffee husk and moisture of culture medium on the spore yield of Hypocrea pseudokoningii were investigated. Using coffee husk medium with 23% rice bran addition and 65% moisture at ambient temperature, the highest spore yield of 9.2 x108 spores/g was found after incubation for 168 hours. The fungi biomass product was dried at 40oC for 54 hours to obtain the final moisture of 12% and spore survival of 5.9 x108 spores/g.  

  3. [Analysis of prenatal follow-up strategies for trisomy 21 affected pregnancies in France].

    Science.gov (United States)

    Dupont, J-M; Simon-Bouy, B; Zebina, A; Pessione, F; Royère, D; Doco-Fenzy, M

    2017-03-01

    The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening failure versus cases where the women refused either the screening or the prenatal diagnosis of Down syndrome. This study covers the period of time from 2009 to 2012 when the national prenatal screening policy changed from second to first trimester and allows for a comparative assessment of the nationwide efficiency of the various maternal serum marker based strategies. All authorized cytogenetic laboratories sent required data for all cases of trisomy 21 diagnosed in FRANCE in new-borns (less than 1-year-old) from January 2010 to July 2013. A total of 1253 cases of trisomy 21 were diagnosed before 1 year of age whose mother did not had prenatal diagnosis. For 861 of them, information on the prenatal follow-up was available, with 72% of cases where a prenatal screening was organized either by maternal serum marker or by ultrasound. Results of the screening strategy was positive with maternal serum marker in 28% of cases (calculated risk≥1/250), positive because of abnormal ultrasound in 5% and negative with maternal marker screening (whatever the strategy used) in 67% of cases. Detection rate over the period of the study was 82%, with similar efficiency of first and second trimester strategies (83%) but significantly lower with sequential association of first trimester Nuchal translucency measurement and second trimester serum screening (70%). Switching from second trimester to first trimester screening strategy, with as many trisomy 21 foetuses diagnosed with half invasive procedures fulfilled national health policy objectives. Analysis of these data gives useful insights to elaborate a future screening policy involving cell-free foetal DNA sequencing. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  5. Influence of maternal weight on MoM and screening performance in second trimester prenatal triple marker screening%孕中期孕妇体重对血清指标 MoM 值和三联筛查结果的影响

    Institute of Scientific and Technical Information of China (English)

    张彬; 刘晓艳

    2014-01-01

    目的:验证复旦大学附属妇产科医院实验室对孕妇体重校正方法的有效性,并研究孕妇体重对孕中期三联筛查的影响。方法收集孕中期唐氏综合征筛查标本单妊娠28577例,采用化学发光免疫分析技术检测血清甲胎蛋白(AFP)、人绒毛膜促性腺激素β亚基(β-hCG)、和游离雌三醇(uE3)的浓度,通过回归体重校正参数,得到体重校正的 MoM值,计算唐氏综合征、爱德华氏征和神经管缺陷风险。结果最合适本实验室的体重校正模型是倒数模型,使用该校正模型,比不校正体重多检出2例21三体的检出率,检出率从65%提高到76%。结论通过体重校正消除体重对血清标志物含量的影响,进一步提高21三体检出率。各个实验室需要根据当地人群建立自己的体重公式,可以更准确报告唐氏综合征、爱德华氏征和神经管缺陷的风险度。%Objective To verify the validity of maternal weight adjustment,and to study the influence of maternal weight adjustment on second trimester prenatal triple marker screening in the Obstetrics and Gynecology Hospital of Fudan University.Methods A total of 28 577 second trimester pregnant women were enrolled,and their serum samples were determined by chemiluminescence immunoassay for Down syndrome second trimester prenatal screening with triple markers,alpha fetoprotein (AFP),beta subunit of human chorionic gonadotropin (β-hCG)and unconjugated estriol (uE3).After regressing the maternal weight adjustment parameters,the MoMof maternal weight adjustment was obtained, and the risks of Down syndrome,Edward syndrome and open neural tube disease were calculated.Results Reciprocal-linear was the best fitting model.The reciprocal-linear model detected 2 cases of Down syndrome,thus the detection rate increased from 65% to 76%,comparing to that of no maternal weight adjustment.Conclusions Maternal weight adjustment can increase the

  6. 四维彩超在胎儿先天性畸形中的临床诊断价值%Four-dimensional color Doppler ultrasound in examination in prenatal screening of fetal malformation

    Institute of Scientific and Technical Information of China (English)

    罗妙云

    2014-01-01

    目的 探讨四维彩超在胎儿先天性畸形中的诊断价值.方法 随机观察我院2012年1月至2014年1月孕中晚期孕妇1200例产前常规超声检查结果,所有孕妇均进行了二维超声和四维超声检查,并随访至产后1个月,比较二维超声和四维超声诊断胎儿先天性畸形的准确性.结果 经产后临床证实,共发现先天性胎儿畸形34例,其中神经管畸形10例,心脏畸形8例,唇腭裂7例,泌尿系畸形3例,四肢畸形3例,腹部畸形1例,其他2例.四维超声检出畸形31例,与产后符合率91.17%;漏诊3例,其中多指畸形1例,脊柱裂2例.二维超声检出畸形26例,符合率76.47%;漏诊8例,其中唇腭裂2例,多指畸形2例,脊柱裂3例,足内翻1例.二维和四维超声的诊断符合率比较差异具有统计学意义(P<0.05).结论 四维超声更能多方位、多切面观察胎儿宫内发育情况,对诊断胎儿体表畸形具有更直观和准确的判断,具有较高的临床价值.%Objective To investigate the diagnostic value of four-dimensional (4D) color Doppler ultrasound examination in prenatal screening of fetal malformation.Methods 1200 pregnant women were observed and detected by four-dimensional color Doppler and two dimensional ultrasound.The results were compared with the results confirmed by clinical pathology.Results 34 cases were detected with congenital defects; among which,10 got defects in nervous system,8 heart deformity,7 cheilopalatognathus,3 urinary tract malformation,3 limb deformity,1 abdominal deformity,and the other 2 cases.31 cases were detected with deformity by four-dimensional color Doppler,with a postpartum coincidence rate of 91.17%; and 3 cases were misdiagnosed,of which 1 case had polydactyly deformity and 2 cases spina bifida.26 cases were detected with deformity by two-dimensional ultrasony,with a postpartum coincidence rate of 76.47%; and 8 cases were misdiagnosed,of which 2 cases had cleft lip and palate,2 case polydactyly

  7. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  8. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  9. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

    Science.gov (United States)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B M; Cornel, Martina C; Sistermans, Erik A

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA.

  10. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  11. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  12. The prenatal roots of music

    Directory of Open Access Journals (Sweden)

    David Ernest Teie

    2016-08-01

    Full Text Available Although the idea that pulse in music may be related to human pulse is ancient and has recently been promoted by researchers (Parncutt, 2006; Snowdon & Teie, 2010, there has been no ordered delineation of the characteristics of music that are based on the sounds of the womb. I describe features of music that are based on sounds that are present in the womb: tempo of pulse (pulse is understood as the regular, underlying beat that defines the meter, amplitude contour of pulse, meter, musical notes, melodic frequency range, continuity, syllabic contour, melodic rhythm, melodic accents, phrase length, and phrase contour. There are a number of features of prenatal development that allow for the formation of long-term memories of the sounds of the womb in the areas of the brain that are responsible for emotions. Taken together, these features and the similarities between the sounds of the womb and the elemental building blocks of music allow for a postulation that the fetal acoustic environment may provide the bases for the fundamental musical elements that are found in the music of all cultures. This hypothesis is supported by a one-to-one matching of the universal features of music with the sounds of the womb: 1 all of the regularly heard sounds that are present in the fetal environment are represented in the music of every culture, and 2 all of the features of music that are present in the music of all cultures can be traced to the fetal environment.

  13. Cultural and linguistic adaptation of a multimedia colorectal cancer screening decision aid for Spanish-speaking Latinos.

    Science.gov (United States)

    Ko, Linda K; Reuland, Daniel; Jolles, Monica; Clay, Rebecca; Pignone, Michael

    2014-01-01

    As the United States becomes more linguistically and culturally diverse, there is a need for effective health communication interventions that target diverse, vulnerable populations, including Latinos. To address such disparities, health communication interventionists often face the challenge to adapt existing interventions from English into Spanish in a way that retains essential elements of the original intervention while also addressing the linguistic needs and cultural perspectives of the target population. The authors describe the conceptual framework, context, rationale, methods, and findings of a formative research process used in creating a Spanish-language version of an evidence-based (English language) multimedia colorectal cancer screening decision aid. The multistep process included identification of essential elements of the existing intervention, literature review, assessment of the regional context and engagement of key stakeholders, and solicitation of direct input from target population. The authors integrated these findings in the creation of the new adapted intervention. They describe how they used this process to identify and integrate sociocultural themes such as personalism (personalismo), familism (familismo), fear (miedo), embarrassment (verguenza), power distance (respeto), machismo, and trust (confianza) into the Spanish-language decision aid.

  14. Towards the development of a common starter culture for fufu and usi (edible starch: Screening for potential starters

    Directory of Open Access Journals (Sweden)

    Kubrat A. Oyinlola

    2016-04-01

    Full Text Available Fermented cassava products like fufu and usi are important staple foods in many African homes. Natural fermentation time is usually long resulting in slower acidification and inconsistent nutritional composition of products which could be overcome with the use of starter culture. However, most available starters are used for single food fermentation and are uneconomical. This necessitates the development of a starter culture for multiple related food products to reduce cost. Hence, this study aimed at screening for potential starters in the development of a common starter culture for fufu and usi.Fresh, peeled, chipped and grated cassava tubers were spontaneously fermented and lactic acid bacteria were isolated from the fermenting mash at 24 hour intervals. Ninety eight (98 isolates were randomly picked. Lactobacillus plantarum had highest occurrence (50.0% in both fermentations.All selected isolates did not hydrolyze starch, but produced linamarase and pectinase. Fermenting pH ranged between 6.50 and 3.58 during 72 hours fermentation. Lactic acid concentration ranged from 1.10 g/L to 1.78 g/L at 24 hours, 1.22 g/L to 2.45 g/L at 48 hours and 0.57 g/L to 2.55 g/l at 72 hours. The highest hydrogen peroxide concentration produced was 629 µg/L at 24 hours while the least was 136 µg/L at 72 hours. 1.08 g/L of diacetyl was the least concentration produced at 24 hours while the highest was 2.86 g/L at 48 hours.Five potential starters were identified as Lactobacillus pentosus F2A, L. plantarum subsp. argentolarensis F2B, L. plantarum F2C, L. plantarum U2A and L. paraplantarum U2C.

  15. Towards the development of a common starter culture for fufu and usi (edible starch: Screening for potential starters

    Directory of Open Access Journals (Sweden)

    Kubrat A. Oyinlola

    2016-04-01

    Full Text Available Fermented cassava products like fufu and usi are important staple foods in many African homes. Natural fermentation time is usually long resulting in slower acidification and inconsistent nutritional composition of products which could be overcome with the use of starter culture. However, most available starters are used for single food fermentation and are uneconomical. This necessitates the development of a starter culture for multiple related food products to reduce cost. Hence, this study aimed at screening for potential starters in the development of a common starter culture for fufu and usi.Fresh, peeled, chipped and grated cassava tubers were spontaneously fermented and lactic acid bacteria were isolated from the fermenting mash at 24 hour intervals. Ninety eight (98 isolates were randomly picked. Lactobacillus plantarum had highest occurrence (50.0% in both fermentations.All selected isolates did not hydrolyze starch, but produced linamarase and pectinase. Fermenting pH ranged between 6.50 and 3.58 during 72 hours fermentation. Lactic acid concentration ranged from 1.10 g/L to 1.78 g/L at 24 hours, 1.22 g/L to 2.45 g/L at 48 hours and 0.57 g/L to 2.55 g/l at 72 hours. The highest hydrogen peroxide concentration produced was 629 µg/L at 24 hours while the least was 136 µg/L at 72 hours. 1.08 g/L of diacetyl was the least concentration produced at 24 hours while the highest was 2.86 g/L at 48 hours.Five potential starters were identified as Lactobacillus pentosus F2A, L. plantarum subsp. argentolarensis F2B, L. plantarum F2C, L. plantarum U2A and L. paraplantarum U2C.

  16. Screening of phenylpyruvic acid producers and optimization of culture conditions in bench scale bioreactors.

    Science.gov (United States)

    Coban, Hasan B; Demirci, Ali; Patterson, Paul H; Elias, Ryan J

    2014-11-01

    Alpha keto acids are deaminated forms of amino acids that have received significant attention as feed and food additives in the agriculture and medical industries. To date, their production has been commonly performed at shake-flask scale with low product concentrations. In this study, production of phenylpyruvic acid (PPA), which is the alpha keto acid of phenylalanine was investigated. First, various microorganisms were screened to select the most efficient producer. Thereafter, growth parameters (temperature, pH, and aeration) were optimized in bench scale bioreactors to maximize both PPA and biomass concentration in bench scale bioreactors, using response surface methodology. Among the four different microorganisms evaluated, Proteus vulgaris was the most productive strain for PPA production. Optimum temperature, pH, and aeration conditions were determined as 34.5 °C, 5.12, and 0.5 vvm for PPA production, whereas 36.9 °C, pH 6.87, and 0.96 vvm for the biomass production. Under these optimum conditions, PPA concentration was enhanced to 1,054 mg/L, which was almost three times higher than shake-flask fermentation concentrations. Moreover, P. vulgaris biomass was produced at 3.25 g/L under optimum conditions. Overall, this study demonstrated that optimization of growth parameters improved PPA production in 1-L working volume bench-scale bioreactors compared to previous studies in the literature and was a first step to scale up the production to industrial production.

  17. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad ... 22 weeks • Blood test • Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • ...

  18. 1998-2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析%Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 商璇; 尹保民; 熊符; 肖奇志; 周万军; 张永良; 徐湘民

    2012-01-01

    thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.Results From January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237%,7 393/141 166) and 3333 for β-thalassemia (2.361%,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7%,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9% (49/149).Conclusions This study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary

  19. Outcome of prenatally diagnosed trisomy 6 mosaicism.

    Science.gov (United States)

    Wallerstein, Robert; Oh, Tracey; Durcan, Judy; Abdelhak, Yaakov; Clachko, Mark; Aviv, Hana

    2002-08-01

    We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus.

  20. Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' data

    DEFF Research Database (Denmark)

    Thiébaut, Rodolphe; Leproust, Sandy; Chêne, Geneviève

    2007-01-01

    BACKGROUND: Despite three decades of prenatal screening for congenital toxoplasmosis in some European countries, uncertainty remains about the effectiveness of prenatal treatment. METHODS: We did a systematic review of cohort studies based on universal screening for congenital toxoplasmosis. We did...... a meta-analysis using individual patients' data to assess the effect of timing and type of prenatal treatment on mother-to-child transmission of infection and clinical manifestations before age 1 year. Analyses were adjusted for gestational age at maternal seroconversion and other covariates. FINDINGS......: We included 26 cohorts in the review. In 1438 treated mothers identified by prenatal screening, we found weak evidence that treatment started within 3 weeks of seroconversion reduced mother-to-child transmission compared with treatment started after 8 or more weeks (adjusted odds ratio [OR] 0.48, 95...

  1. Systematic microcarrier screening and agitated culture conditions improves human mesenchymal stem cell yield in bioreactors.

    Science.gov (United States)

    Rafiq, Qasim A; Coopman, Karen; Nienow, Alvin W; Hewitt, Christopher J

    2016-03-01

    Production of human mesenchymal stem cells for allogeneic cell therapies requires scalable, cost-effective manufacturing processes. Microcarriers enable the culture of anchorage-dependent cells in stirred-tank bioreactors. However, no robust, transferable methodology for microcarrier selection exists, with studies providing little or no reason explaining why a microcarrier was employed. We systematically evaluated 13 microcarriers for human bone marrow-derived MSC (hBM-MSCs) expansion from three donors to establish a reproducible and transferable methodology for microcarrier selection. Monolayer studies demonstrated input cell line variability with respect to growth kinetics and metabolite flux. HBM-MSC1 underwent more cumulative population doublings over three passages in comparison to hBM-MSC2 and hBM-MSC3. In 100 mL spinner flasks, agitated conditions were significantly better than static conditions, irrespective of donor, and relative microcarrier performance was identical where the same microcarriers outperformed others with respect to growth kinetics and metabolite flux. Relative growth kinetics between donor cells on the microcarriers were the same as the monolayer study. Plastic microcarriers were selected as the optimal microcarrier for hBM-MSC expansion. HBM-MSCs were successfully harvested and characterised, demonstrating hBM-MSC immunophenotype and differentiation capacity. This approach provides a systematic method for microcarrier selection, and the findings identify potentially significant bioprocessing implications for microcarrier-based allogeneic cell therapy manufacture.

  2. Screening of lactic acid bacteria isolated from Serbian kajmak for use in starter cultures

    Directory of Open Access Journals (Sweden)

    Joković, N.

    2014-09-01

    Full Text Available One hundred and seventy eight isolates of lactic acid bacteria (LAB were isolated by pour plate and enrichment techniques from a sample of milk used for kajmak production and three samples of kajmak from one month ripening period. The identification of isolates was performed by phenotypic characterization followed by molecular identification using (GTG5-PCR and sequence analysis of 16S rRNA gene. Isolates belonged to Lactococcus lactis and Enterococcus faecium were found in milk and kajmak samples while Leuconostoc mesenteroides and Enterococcus durans were the most frequently isolated species from kajmak samples. Streptococcus thermophilus were isolated from milk sample only with enrichment technique. Further characterization of LAB isolates was done for technological properties which are important for industrial application of LAB. Strains of Lc. lactis and S. thermophilus that showed very good acidification and proteolityc activities and L. mesenteroides strains that metabolized citrate can be used in development of starter cultures for eventual industrial production of kajmak. Additionally, producers of antimicrobial compounds belonged to Lc. lactis subsp. lactis biovar. diacetylactis can be used for control of undesirable microflora in kajmak production.

  3. Costs, effects, and savings of screening for cystic fibrosis gene carriers

    NARCIS (Netherlands)

    Wildhagen, MF; Hilderink, HBM; Verzijl, JG; Verheij, JBGM; Kooij, L; Tijmstra, T; ten Kate, LP; Habbema, JDF

    1998-01-01

    Study objective-Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. Design-A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two s

  4. Portuguese translation, cross-cultural adaptation and reliability of the questionnaire «Start Back Screening Tool» (SBST).

    Science.gov (United States)

    Raimundo, Armando; Parraça, José; Batalha, Nuno; Tomas-Carus, Pablo; Branco, Jaime; Hill, Jonathan; Gusi, Narcis

    2017-01-01

    To translate and perform the cross-cultural adaptation of the StarT Back Screening Tool (SBST) questionnaire to assessment and screening low back pain for Portuguese application, and test their reliability. To establish conceptual equivalence in item, semantic and operational concern, there were performed two translations into Portuguese in a independently way. A combined version was obtained by consensus among the authors of the translations in order to be achieved a noticeable version in semantic terms and easy to understand. The synthesis version was administered to 40 subjects distributed by gender, young and older adults, with and without low back pain. Through cognitive interviews with the subjects of the sample, clarity, the acceptability, as well as the familiarization of the Portuguese version was evaluated, promoting the changes necessary for a better understanding. The final Portuguese version of the questionnaire was then back-translated into the original language. To evaluate the SBST-Portugal psychometric properties, 31 subjects with low back pain performed two interviews. Participants interviewees reported that in general the items were clear and comprehensible achieving face validity. The reliability of the SBST-Portugal showed a Kappa value of 0,74 (95%IC 0,53-0,95), and the internal consistency (Cronbach's alpha) was 0,93 for the total score and 0,93 for the psychosocial subscale. The Portuguese version of SBST questionnaire proved to be equivalent to the original English version and reliable for the Portuguese population with low back pain. Being an instrument of easy access and application it could be use in primary care.

  5. Portuguese translation, cross-cultural adaptation and reliability of the questionnaire «Start Back Screening Tool» (SBST

    Directory of Open Access Journals (Sweden)

    Armando Raimundo

    2017-01-01

    Full Text Available Objective: To translate and perform the cross-cultural adaptation of the StarT Back Screening Tool (SBST questionnaire to assessment and screening low back pain for Portuguese application, and test their reliability. Method: To establish conceptual equivalence in item, semantic and operational concern, there were performed two translations into Portuguese in a independently way. A combined version was obtained by consensus among the authors of the translations in order to be achieved a noticeable version in semantic terms and easy to understand. The synthesis version was administered to 40 subjects distributed by gender, young and older adults, with and without low back pain. Through cognitive interviews with the subjects of the sample, clarity, the acceptability, as well as the familiarization of the Portuguese version was evaluated, promoting the changes necessary for a better understanding. The final Portuguese version of the questionnaire was then back-translated into the original language. To evaluate the SBST-Portugal psychometric properties, 31 subjects with low back pain performed two interviews. Results: Participants interviewees reported that in general the items were clear and comprehensible achieving face validity. The reliability of the SBST-Portugal showed a Kappa value of 0,74 (95%IC 0,53-0,95, and the internal consistency (Cronbach’s alpha was 0,93 for the total score and 0,93 for the psychosocial subscale. Conclusion: The Portuguese version of SBST questionnaire proved to be equivalent to the original English version and reliable for the Portuguese population with low back pain. Being an instrument of easy access and application it could be use in primary care.

  6. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

    2016-01-01

    Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

  7. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  8. Prenatal testosterone and stuttering.

    Science.gov (United States)

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. SCREENING FOR CUCUMBER MOSAIC RESISTANT LINES FROM THE OVULE CULTURE DERIVED DOUBLE HAPLOID CUCUMBERS

    Directory of Open Access Journals (Sweden)

    Parichat Plapung

    2014-01-01

    Full Text Available CMV is one of the major destructive viruses worldwide and commercial CMV resistant cucumber is very rare. Therefore we aimed to establish the ovule derived resistant lines used for the breeding program. Haploid plants of sixty-eight cucumber lines were successfully obtained by culturing the un pollinated ovaries harvested one day before an thesis on a modified MS medium supplemented with BAP and IAA at the ratio of 2:1 which was optimal to induce embryogenesis in most of the tested lines. For whole plant regeneration, another modified MS medium was used supplemented with a combination of 6-Benzylaminopurine (BAP and Indole-3-Acetic Acid (IAA (2:1 or BAP and IAA/6-(gamma, gamma-dimethylallylamino purine (2ip and IAA (5:1 and 5 ppm AgNO3. Ploidy levels of the regenerants were determined by cytological analysis. Thirteen out of 42 clones derived from 14 accessions showed a chromosome number of n = 7 and chloroplast number of 6/pair of guard cell, 24 lines were auto-dihaploid with n = 14 and a chloroplast number of 11-12/pair of guard cell. Twenty-eight Double Haploid (DH lines were mechanically inoculated with CMV and the level of resistance was evaluated by using DAS-ELISA. Ten highly Resistant lines (R included 70S2, 91e, 91.1, 93S4-1, 93S42-, 95S1-2, 95S2 DHS1, 117S2-1-3, 136.1 and 194S1 did not show any virus symptom and gave negative ELISA results. Twelve moderately resistant clones were identified including two clones from line 11, three clones from line 93, four clones from line 91 and one clone each from line 117S2 and 123, whereas clone 11.4 was moderately susceptible. Five DH clones; 117S2-1-1, 117S2-2, 117S2-4, 117S2-7 and 117S2-8were classified as highly susceptible.

  10. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  11. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  12. Prenatal prevention for severe thalassemia disease at Srinagarind Hospital.

    Science.gov (United States)

    Ratanasiri, Thawalwong; Charoenthong, Chutharat; Komwilaisak, Ratana; Changtrakul, Yotsombat; Fucharoen, Supan; Wongkham, Jamras; Kleebkaow, Pilaiwan; Seejorn, Kanok

    2006-10-01

    To evaluate the results and cost-effectiveness of prenatal prevention measurement in severe thalassemia diseases at Srinagarind Hospital. Descriptive study. Antenatal care (ANC) Clinic, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. 1,498 thalassemic screened pregnant women first presenting at ANC Clinic at gestational age less than 17 weeks. Medical records of thalassemic screened pregnant women between February 2002 and February 2005 were analyzed. Those with a value of mean corpuscular volume (MCV) less than 80 fl, or positive dichlorophenol indophenol precipitation test (KKU-DCIP Clear Reagent Kit) underwent hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) together with thalassemia investigation (complete blood count, MCV and Hb typing) of their husbands and to identify couples at risk of 3 severe thalassemia diseases; Hb Bart's hydrops fetalis, homozygous, -thalassemia and, -thalassemia/ Hb E disease. Then they were advised to undergo DNA analysis and, if they had fetal risk, appropriate prenatal diagnosis was offered. Number of affected fetuses detected by prenatal diagnosis. Nine hundred and ninety six pregnant women (66.49%) were positive on screening. Of these, 642 (64.46%) had thalassemia investigation done with their spouses. There were 19 couples at risk (1.27% of total screened pregnant women) for having fetal severe thalassemia disease from initial laboratory results. Most of them were, -thalassemia/ Hb E diseases. We found only 10 pregnant women (52.63%) that had undergone prenatal diagnosis. The consequent results were two affected fetuses (20%), one was Hb Bart's hydrops fetalis, and the other was, o-thalassemia/ Hb E disease. In these cases, their parents decided to discontinue the pregnancy. Our prevention program could save 1.14 million bahts for the cost of treatment in two prevented severe thalassemia cases. The prenatal prevention program of severe thalassemia disease at Srinagarind Hospital can

  13. The effection of choriontity on twin's first-trimester prenatal screening.%绒毛膜性质对双胎早期唐氏征筛查的影响

    Institute of Scientific and Technical Information of China (English)

    唐华; 周莹; 唐汪澜; 王华

    2016-01-01

    目的 通过比较不同绒毛膜性对双胎早期唐氏筛查风险的影响,指导双胎早期唐氏筛查的风险计算.方法 收集2014年7月至12月于湖南省妇幼保健院行唐氏筛查的170例自然妊娠双绒毛膜双羊膜囊双胎孕妇,用双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊分别计算风险并追踪妊娠结局,比较用不同绒毛膜性进行风险计算所造成的差异.结果 按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算的妊娠相关蛋白A中位数倍数(PAPP-A MOM)分别为2.19,1.20,1.37;人绒毛膜促性腺激素游离β亚基中位数倍数(free HCG βMOM)分别为2.02,1.09,1.36.按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算所得唐氏综合征高风险例数分别为1 3例、10例和7例,假阳性率分别为7.65%,5.88%,4.12%.追踪所有孕妇妊娠结局,其中双胎之一发生染色体异常者2例,双胎之一停育者2例,双胎停育者1例,1例双胎之一为心脏室间隔缺损,出生后行手术修补,1例双胎出生后均确诊为先天性甲状腺功能减低症.结论 运用不同绒毛膜性进行双胎早期唐氏筛查风险计算,血清生化指标及风险值会发生显著变化,应按照孕妇真实情况详细描述双胎绒毛膜性,避免错误风险计算及漏筛情况的发生.%Objective:To study whether there were significant difference among different choriontity for guiding the clinical twin's first-trimester prenatal screening.Method:Collecting 170 cases of natural twin pregnancy samples from July 2014 to December 2014.All cases were dichorionic diamniotic (DCDA).Using different chodontity such as dichorionic diamniotic,monochorionic diamniotic (MCDA),monochorionic monoamniotic (MCMA) calculated the risk of Down's syndrome at the first-trimester pregnancy.The difference were analyzed combined with the pregnancy results were followed up.Results:According to different

  14. 产前不同时期三维超声筛查胎儿唇裂的效果比较%Comparison of prenatal 3D ultrasound screening at different periods for fetal cleft lip

    Institute of Scientific and Technical Information of China (English)

    阳瑞莲

    2014-01-01

    目的:探讨产前不同时期三维超声筛查胎儿唇裂畸形的效果。方法选择2007年8月至2014年6月在衡阳市第一人民医院进行产前检查并确诊胎儿为唇裂的孕妇31例,对其二维图像及三维成像进行对比,研究三维成像对胎儿唇裂的显示率及最佳显示时间。结果31例唇裂中,孕14~19周5例,面部三维成像满意者3例,唇部结构清晰显示者2例(唇裂的三维超声显示率40.0%);孕20~27周17例,面部三维成像满意或基本满意者15例,唇部结构清晰显示者15例(三维超声显示率88.2%);孕28~34周6例,面部三维成像满意或基本满意者3例,唇部结构清晰显示者2例(三维超声显示率33.3%);孕35周~39周3例,仅1例羊水过多患者面部三维成像满意,唇部结构显示清晰(三维超声显示率33.3%)。孕20~27周胎儿唇裂三维成像显示率明显高于孕14~19周(χ2=5.119,P=0.024)、28~34周(χ2=6.933,P=0.008)和35~39周(χ2=4.804,P=0.028),差异均有统计学意义。三维成像满意显示的唇裂中Ⅰ度唇裂3例(15.0%),Ⅱ度唇裂4例(20.0%),Ⅲ度唇裂7例(35.0%),唇裂合并上牙槽突裂3例(15.0%),唇裂合并腭裂3例(15.0%)。结论三维超声诊断胎儿唇裂存在明显的时限性,最佳时间为孕20~27周。%Objective To study the effect of 3D ultrasound screening for fetal cleft lip deformity at different periods .Methods Totally 31 pregnant women ,who had done prenatal examination in the First People ’ s Hospital of Hengyang City during the period of August 2007 to June 2014,were diagnosed with cleft lip .Their 2D images and 3D images were compared to study the display rate and the optimal display time of fetal cleft lip by 3D imaging.Results Of 31 cases of cleft lip, 5 cases were pregnancy at 14-19 gestational weeks, including 3 cases with

  15. Physician liability and non-invasive prenatal testing.

    Science.gov (United States)

    Toews, Maeghan; Caulfield, Timothy

    2014-10-01

    Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician-patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.

  16. 产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值%Diagnostic Value of Prenatal Ultrasound Screening on Fetuses with Complex Congenital Heart Malformation in Second Trimester of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    夏曦; 周芬芳; 陈宏; 陈莉

    2014-01-01

    Objective To explore the diagnostic value of prenatal ultrasound screening on fetuses with complex con-genital heart malformation in second trimester of pregnancy. Methods From February 2012 to February 2014,the examination data of prenatal ultrasound screening of 9 300 pregnant women in second trimester of pregnancy in our hospital were retrospectively analyzed,the ultrasound findings and follow - up results were compared. Results The positive rate of complex congenital heart malformation was 0. 29% (27 / 9 300). There was no significant differences of detection rate of endocardial cushion defect, transposition of the great arteries,single atrium or ventricle,left or right heart dysplasia,persistent truncus arteriosus,inter-rupted aortic arch,left ventricular cardiac rhabdomyoma,Fallot's tetrad,outside heart malformations and ventricular septal de-fect between ultrasound findings and the fellow - up results(P > 0. 05). A total of 5 cases(0. 05% )got missed diagnosis,in-cluding one case of Fallot's tetrad,2 cases of pulmonary artery stenosis,2 cases of ventricular septal defect. Conclusion Pre-natal ultrasound screening has a higher accurate diagnosis rate on fetuses with complex congenital heart malformation in second tri-mester of pregnancy,is helpful in reducing the birth rate of fetuses with complex congenital heart malformation and to prenatal and postnatal care.%目的:探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月-2014年2月在我院进行产前超声筛查的9300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果9300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结

  17. The results and analysis on the prenatal screening for 7952 cases of pregnant women with serum in Xiaoshan area,Hangzhou%杭州萧山区7952例孕妇血清产前筛查结果与分娩结局的分析

    Institute of Scientific and Technical Information of China (English)

    许文龙; 顾柳芬; 窦琳琳; 楼乐飞

    2012-01-01

    Objective: To search the prenatal screening on second trimester fetusfor fetal chromosomal abnormalities and neural tube defects, in order to reduce the birth deficiency. Methods; Time - resolved fluorescence immunoassay are used to tests the concentrations of AFP, Free - β - HCG in the serum of 7952 middle period pregnant women whose were pregnant for 15 - 19 weeks in Xiaoshan. And the childbirth of pregnant women were followed up. Results: 7952 pregnant women accepted prenatal screening, the high risk rate is 2. 79% (222/7952). Among them, 189 cases indicate DS, 8 cases indicate 18 -trisomy, 25 cases indicate NTD. All pregnant women were follow - up and 112 cases were amniocentesis in 222 cases because of high risk. The rate of amniocentesis is 50.45%. Abnormal incidence was 6.30% (14/222); by the way of amniocentesis and ultrasound, 3 cases of 21 -trisomy syndrome , 1 case of endocardial defect and 1 caes of chromosome constriction extended were found. There are 96 low - risk abnormal labor from 7730 cases which are low — risk abnormalities, accounting for 1. 24% of low - risk population. Than a total of 110 cases of abnormal birth, of which 31 cases of spontaneous abortion, 41 cases of medical termination of pregnancy, 19 cases of stillbirth, 19 cases of neonatal abnormalities. Conclusion: The combination of prenatal screening and prenatal diagnosis are important for preventing the born of children with chromosomal abnormalities and other congenital malformations.%目的 了解孕中期产前筛查对胎儿染色体异常及神经管缺陷的作用,以降低出生缺陷.方法 应用时间分辨荧光免疫法对萧山区7952例孕15 ~19+6周孕妇血清AFP和Free -β - HCG进行产前筛查,同时对孕妇分娩结局进行随访结果.结果 血清产前筛查7952人,高风险222例,高风险率为2.79%.其中21-三体综合征高风险189例;18-三体综合征高风险8例;NTD高风险25例.7952例月孕妇分娩随访结果显示:高风险222例

  18. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint.

    Science.gov (United States)

    Norton, Mary E; Rose, Nancy C; Benn, Peter

    2013-04-01

    The recent introduction of clinical tests to detect fetal aneuploidy by analysis of cell-free DNA in maternal plasma represents a tremendous advance in prenatal diagnosis and the culmination of many years of effort by researchers in the field. The development of noninvasive prenatal testing for clinical application by commercial industry has allowed much faster introduction into clinical care, yet also presents some challenges regarding education of patients and health care providers struggling to keep up with developments in this rapidly evolving area. It is important that health care providers recognize that the test is not diagnostic; rather, it represents a highly sensitive and specific screening test that should be expected to result in some false-positive and false-negative diagnoses. Although currently being integrated in some settings as a primary screening test for women at high risk of fetal aneuploidy, from a population perspective, a better option for noninvasive prenatal testing may be as a second-tier test for those patients who screen positive by conventional aneuploidy screening. How noninvasive prenatal testing will ultimately fit with the current prenatal testing algorithms remains to be determined. True cost-utility analyses will be needed to determine the actual clinical efficacy of this approach in the general prenatal population.

  19. 产前系统超声筛查与胎儿染色体异常的关系%The Correlation for Prenatal Ultrasound Screening of Fetal Malformations and Fetal Chromosomal Abnormality

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2011-01-01

    目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值.方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系.结果:共有105例超声检查发现胎儿异常的孕妇接受了羊水或脐静脉穿刺行胎儿染色体核型分析,77例超声发现严重异常的病例中检出26例染色体异常(26/77),严重异常组与微小异常组之间染色体异常发病的差异有高度统计学意义(χ2=12.566,P<0.001),尤其是胎儿先天性心脏病合并心外畸形时,染色体异常发病率高达55%(11/20).结论:产前系统超声及超声心动图筛查可以发现大多数的胎儿发育异常,特别是胎儿先天性心脏病,可以为进一步进行侵入性产前诊断提供重要依据.%Objective:To assess the effectiveness of systematic ultrasound in second or third trimester to detect fetal malformations for instructing the necesity of further invasive prenatal diagnosis.Methods:This retrospective study included pregnancy women from January 2008 to June 2009 in the Affiliated Drum Tower hospital of Nanjing University Medical College.Those women had systematic ultrasound and echocardiogram examination within the second or third trimester of pregnancy.When fetal malformations were found, the invasive prenatal diagnosis (puncture of amniotic fluid or umbilical vein) was suggested to check the chromosomal abnormalities and analyze their relationship.Results:105 pregnant women who were found fetal abnormalities were recruited and had the invasive prenatal diagnosis, 26 cases of chromosomal abnormalities were found in 77 obvious ultrasound abnormalities.There was significant difference in chromosomal abnormalities between obvious and

  20. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  1. Effect of a culture-based screening algorithm on tuberculosis incidence in immigrants and refugees bound for the United States: a population-based cross-sectional study.

    Science.gov (United States)

    Liu, Yecai; Posey, Drew L; Cetron, Martin S; Painter, John A

    2015-03-17

    Before 2007, immigrants and refugees bound for the United States were screened for tuberculosis (TB) by a smear-based algorithm that could not diagnose smear-negative/culture-positive TB. In 2007, the Centers for Disease Control and Prevention implemented a culture-based algorithm. To evaluate the effect of the culture-based algorithm on preventing the importation of TB to the United States by immigrants and refugees from foreign countries. Population-based, cross-sectional study. Panel physician sites for overseas medical examination. Immigrants and refugees with TB. Comparison of the increase of smear-negative/culture-positive TB cases diagnosed overseas among immigrants and refugees by the culture-based algorithm with the decline of reported cases among foreign-born persons within 1 year after arrival in the United States from 2007 to 2012. Of the 3 212 421 arrivals of immigrants and refugees from 2007 to 2012, a total of 1 650 961 (51.4%) were screened by the smear-based algorithm and 1 561 460 (48.6%) were screened by the culture-based algorithm. Among the 4032 TB cases diagnosed by the culture-based algorithm, 2195 (54.4%) were smear-negative/culture-positive. Before implementation (2002 to 2006), the annual number of reported cases among foreign-born persons within 1 year after arrival was relatively constant (range, 1424 to 1626 cases; mean, 1504 cases) but decreased from 1511 to 940 cases during implementation (2007 to 2012). During the same period, the annual number of smear-negative/culture-positive TB cases diagnosed overseas among immigrants and refugees bound for the United States by the culture-based algorithm increased from 4 to 629. This analysis did not control for the decline in new arrivals of nonimmigrant visitors to the United States and the decrease of incidence of TB in their countries of origin. Implementation of the culture-based algorithm may have substantially reduced the incidence of TB among newly arrived, foreign-born persons in

  2. The place of prenatal clases.

    Science.gov (United States)

    Enkin, M W

    1978-11-01

    The past 20 years has shown an exponential rise in both obstetrical intervention and family centred maternity care. Prenatal classes, although not as yet fully integrated into prenatal care, fill a vital role in teaching couples the information, skills, and attitudes required to participate actively in their reproductive care, and to recognize both their rights and their responsibilities.

  3. Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Khaled R. Gaber

    2015-04-01

    Conclusion: Early prenatal screening and diagnosis, through a systematic multidisciplinary approach, to all cases of mucopolysaccharidoses are recommended, to improve the quality of life and to avoid the presence of other associated fetal developmental malformations.

  4. [Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies].

    Science.gov (United States)

    Babay, Lilla Éva; Horányi, Dániel; Rigó, János; Nagy, Gyula Richárd

    2015-06-28

    The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its efficiency can be justified in studies involving low risk pregnancies as well.

  5. Screening of Suitable Tomato Varieties for Pot Culture%适于盆栽番茄品种的筛选

    Institute of Scientific and Technical Information of China (English)

    张晓虹; 林多; 陈宁; 杨延杰

    2013-01-01

    Abstract:Potted vegetables possess ornamental value and edible value.Ten tomato varieties were taken as experimental materials,which were cultivated in black pots with 4 L substrate.The plant morphological,fructification habit,fruit appearance,fruit soluble solids content were tested and analysis in order to screen the suitable tomato varieties for pot culture.The results showed that the cherry tomato Taiwan Cherry,with red oval fruit,had the shortest plant height,large amount of fruit setting and long harvest time,and also had advantage in cultivation and management.The soluble solids content of cherry tomato Taiwan Cherry fruit was the highest to 10.3% among the ten varieties.The cherry tomatoYellow beautyhad the biggest plant width (56.7 cm),the width of plant,yellow pear shape fruit.So the cherry red fruit tomato Taiwan Cherry and the cherry yellow fruit tomato Yellow beautywere the most suitable for pot culture.%以10个番茄品种为材料,种植在4L的黑色营养钵内,通过对盆栽番茄的植株形态、结果习性、果实外观、可溶性固形物含量的比较分析,筛选出适宜盆栽的番茄品种.结果表明:台湾圣女植株株高较矮、便于管理,红色椭圆形小果,结果量大,采收期较长,果实可溶性固形物含量最高10.3%.黄美人株幅最大为56.7 cm,植株开展,果实黄色洋梨形,形状独特.台湾圣女和黄美人是适宜的家庭盆栽番茄品种.

  6. Screening Test of Mother Culture Medium Formula of Pleurotus ery ngii%杏鲍菇母种培养基配方筛选试验

    Institute of Scientific and Technical Information of China (English)

    钮梦洁; 郝涤非

    2013-01-01

    In order to screen cultivation plan of Pleurotus eryngii ,taking Pleurotus eryngii as test material ,the screening test of mother culture medium formula of pleurotus eryngii were carried out by orthogonal design . The results showed that PDA medium respectively added 30 g bran ,10 g corn meal ,5 g yeast powder and 10 g glucose ,and that had the best culture effect for Pleurotus eryngii .%为优化杏鲍菇培养方案,以杏鲍菇子实体为试材,采用正交设计进行了杏鲍菇母种培养基配方筛选试验。结果表明:在PDA培养基中添加麸皮30 g、玉米粉10 g、酵母粉5 g、葡萄糖10 g对杏鲍菇母种培养效果最好。

  7. Mujer Sana, Familia Fuerte: The Effects of a Culturally-Relevant, Community-Based, Promotores Program to Increase Cervical Cancer Screening among Latinas.

    Science.gov (United States)

    McDonough, A Manuela; Vargas, Marcela; Nguyen-Rodriguez, Selena; Garcia, Melawhy; Galvez, Gino; Rios-Ellis, Britt

    2016-01-01

    Although cervical cancer can be prevented through screening and follow-up, Latinas' rate of Pap tests remains low due to knowledge gaps and cultural and attitudinal factors. This study used a single-group pre-/post-test design to evaluate the effectiveness of Mujer Sana, Familia Fuerte (Healthy Woman, Strong Family), an intervention intended to improve Latinas' cervical cancer prevention knowledge, attitudes, self-efficacy to obtain a Pap test, and intention to get tested. The intervention is delivered through a single session by promotores de salud, who use a culturally competent, linguistically appropriate toolkit. A total of 5,211 Latinas participated in the study. The evaluation indicated that participants had increases in knowledge, positive attitudes, self-efficacy, and intention to test. Latinas have a low rate of cervical cancer screening but a high rate of cervical cancer, and Mujer Sana, Familia Fuerte shows promise as a public health practice for use with this population.

  8. Mutation screening and prenatal diagnosis of Wilson' s disease by denature high performance liquid chromatography%应用变性高效液相色谱技术进行肝豆状核变性的基因突变筛查及产前诊断

    Institute of Scientific and Technical Information of China (English)

    杜娟; 高伯笛; 李麓芸; 李汶; 卢光琇

    2008-01-01

    目的 探讨变性高效液相色谱(denature high performance liquid chromatography,DHPLC)技术在肝豆状核变性(Wilson's disease,WD)的突变筛查及产前诊断中的临床应用.方法 以6个WD家系中的患者及其父母的DNA为模板,采用PCR技术扩增ATP7B基因的21个外显子及5'非翻译区,PCR产物经DHPLC技术进行突变筛查,对峰型有改变者进行测序验证.在确定了先证者突变类型的基础上,采用相同方法对其中4个家系(1个双胎和3个单胎)进行产前诊断.结果 6例患者中检测出5种已知的致病突变及8种多态类型.患者的父母均为相应突变类型的携带者.产前诊断结果显示,两例妊娠为异常胎儿,其中1例双胎为Arg778Leu/IVS4-1G>C双重杂合子,1例单胎为Ser975Tyr/Pro992Leu双重杂合子,这两对妊娠夫妇选择了终止妊娠.另两例妊娠中,1例为Ser975Tyr杂合子,1例完全正常,他们选择了继续妊娠,出生了表型正常儿.结论 DHPLC在Wilson病的突变检测和产前诊断中有良好的应用前景.%Objective To study the clinical application of denature high performance liquid chromatography (DHPLC) technique on mutation screening and prenatal diagnosis for Wilson' s disease (WD). Methods Genomic DNA of the probands with Wilson' s disease and their parents from 6 families was subjected to polymerase chain reaction (PCR) for the 21 exons and the 5' untranslated region of ATP7B gene. Mutation screening of the PCR products was performed by DHPLC. The abnormal peaks were confirmed by further sequencing analysis. Based on the successful gene diagnosis for the patients, prenatal diagnosis was performed in 4 families, including 1 twin and 3 singletons. Results Five disease-causing mutations and 8 polymorphisms were found in the 6 probands by DHPLC and sequencing. The parents were carriers with the same mutation as their affected children. Prenatal diagnosis showed that two pregnancies were abnormal, including a twin pregnancy with

  9. 基于社区水平的珠海市大人群地中海贫血的遗传筛查和产前诊断%A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 徐湘民; 莫秋华; 卢金汉; 李莉艳; 梁雄; 贾世奇; 肖鸽飞; 周万军; 肖奇志

    2008-01-01

    Objective To describe a community-based model for prevention and control of severe α and β thalassemias in Zhuhai city of Guangdong province.Methods Couples for premarital medical examination or regular heahhcare examination in pregnancy were enrolled in this prospective screening program,which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling.A conventional heterozygote screening strategy Was used to determine α and β thalasemia traits in women and their partners according to the standard procedures of hematological phenotype analysis.Then confirmative diagnosis of α and β thalassemia was performed On those couples suspected at-risk for seven thalassemia by using the PCR-based molecular diagnostic assays. The couples at risk for severe thalassemia Were counseled and offered prenatal diagnosis and termination of pregnancy in ease of an affected fetus. Results During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening,with 71.38% coverage of total population recorded in this city for premarital screening.Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias,with 4312 for α thalassemia (4.5%) and 2251 for β thalassemia (2.3%),respectively.One hundred and forty-eisht couples Were diagnosed to be at-risk for thalassemias,including 103 for a thalassemia and 45 for β thalassemia, respectively.Successful prenatal diagnosis was made for 142(98 for a thalasemia and 44 for β thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias.Twenty-three cases of hydrops fetalis,4 of Hb H diseases and 14 of β thal assemia were identified.All 41 pregnancies with affected fetuses were voluntarily terminated.Thus, this has led to a marked decrease of scvcrc thalassemia syndrome since

  10. Prenatal diagnosis of hemimegalencephaly.

    Science.gov (United States)

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Using Community-Based Participatory Research to Investigate Meaningful Prenatal Care Among African American Women.

    Science.gov (United States)

    Nypaver, Cynthia F; Shambley-Ebron, Donna

    2016-11-01

    In the United States, African American babies die more than twice as often as White babies. The cause for this difference remains elusive, yet is likely complex with one factor being inadequate cultural care of pregnant African American women. The purpose of this study was to explore African American women's perspectives of meaningful prenatal care. Community-based participatory research was employed for this study using photovoice. The sample included 11 African American mothers in an urban community in Midwestern United States. Five themes were abstracted from the data: (1) Access to Care; (2) Soul Nourishment; (3) Companionship; (4) Help Me, Teach Me; and (5) The Future. Meaningful prenatal care is influenced by culture. African American women need physical, social, and soulful support to enhance meaningfulness of care during pregnancy. The findings support that meaningfulness of prenatal care for African American women may be enhanced by accessible and uniquely designed, culturally congruent models of prenatal care. © The Author(s) 2015.

  12. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  13. Factors Influencing the Use of Prenatal Care: A Systematic Review

    Directory of Open Access Journals (Sweden)

    2016-01-01

    Full Text Available Background & aim: Prenatal care is a key strategy for achieving public health goals, primary healthcare objectives, and the Millennium Development Goals. The aim of this study was to investigate the factors influencing the use of prenatal care services in order to design suitable interventions and promote the use of these services. Methods:In this systematic quantitative literature review, studies published in years 2010-2014 were evaluated. For this purpose, two international electronic databases, i.e., Scopus and PubMed, were explored to find English-language articles by using relevant keywords; moreover, the reference lists of the articles were hand-searched. We reviewed all cross-sectional and prospective studies, which focused on factors associated with the use of prenatal care services within the specified period of time. Results: In total, 17 relevant articles were included in our review. The results showed that late initiation and inadequate use of prenatal care services are independently associated with multiple variables, including demographic characteristics, socioeconomic factors, predisposing cultural and religious factors, social support, factors related to healthcare providers, women’s awareness and attitude, unintended pregnancy, high-risk medical or obstetric history, and health behaviors. Conclusion: Based on the literature review, proper use of prenatal care cannot be achieved merely by establishing healthcare centers. Utilization of maternal health services may be achieved and improved via developing socioeconomic factors and addressing patients' basic needs including education and financial independence.

  14. The analysis of advanced age pregnancy and Down′s screening for fetal chromosomal abnormalities in the prenatal%高龄妊娠与唐氏筛查高风险的产前诊断染色体异常分析

    Institute of Scientific and Technical Information of China (English)

    胡丹; 李海军; 李志华; 陈敏; 孙筱放

    2015-01-01

    Objective To explore if the high‐risk of Down′s screening can predict the fetal chromosomal abnormalities for the advanced age pregnant women ,provide a scientific basis for the advanced age pregnant women to select the Down′s screening .Meth‐ods Reviewed the patients which had the indications of prenatal diagnostic because of advanced age and the high‐risk of Down′s screening from January 2010 to June 2013 ,a total of 2 335 cases .All the maternal age were ≥35 years old and the average age was 37 .43 ± 2 .93 .All the cases were carried out karyotype analysis that the samples were from amniotic fluid ,umbilical cord blood or villus ,the training success rate is 99 .5% .Results We found 177 cases abnormal fetal chromosome in the 2 335 cases advanced age women ,the abnormal rate is 7 .58% .The greater the age ,the higher of the chromosomal abnormalities rate in the unusual cases .In addition to chromosomal polymorphism ,the trisomy of the chromosome and inversions between chromosome arms are the most common chromosomal abnormalities .Conclusion Conducted the Down′s screening in the advanced age women can improve the screening rates of the fetal chromosomal abnormalities .It is necessary for the high‐risk of Down′s screening in advanced age preg‐nant women to have the prenatal diagnosis to investigate the fetal chromosomal abnormalities .%目的:探讨唐氏筛查高风险对高龄妊娠染色体异常是否具有预测意义,为高龄孕妇选择唐氏筛查筛选染色体异常提供科学依据。方法回顾该院2010年1月至2013年6月因高龄妊娠唐氏筛查高风险有产前诊断指征前来咨询的病例共2335例,所有孕妇年龄均大于或等于35岁,平均(37.43±2.93)岁。病例均进行了羊水或脐带血细胞绒毛培养染色体核型分析,培养成功率99.5%,然后对染色体核型结果进行分析。结果2335例高龄孕妇中产前诊断染色体结果异常的共有177

  15. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

    DEFF Research Database (Denmark)

    Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst;

    2005-01-01

    , prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three...

  16. 产前系统性超声筛查在中晚期孕妇检查中的诊断价值%Diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy

    Institute of Scientific and Technical Information of China (English)

    陈宏建; 陆得秀; 曹蕊; 茆在梅

    2014-01-01

    目的:探讨产前系统性超声筛查在中晚期孕妇检查中的诊断价值。方法总结和分析仪征市中医院2010年5月至2014年3月对孕22~32周3550例中晚期孕妇进行产前系统性超声筛查结果。结果本组3550例胎儿筛查中,胎儿畸形共80例(2.25%),单发畸形71例,多发畸形9例,其中漏诊5例(0.14%)。在单发畸形中,神经系统畸形17例、泌尿系统畸形12例、心脏畸形10例、消化系统(包括腹部)畸形11例、骨骼系统畸形5例、呼吸系统畸形4例、颈面部8例、其他畸形4例。在漏诊5例中,胎儿复杂心脏畸形1例、腭裂1例、膀胱部分外翻1例、足内翻1例、肛门闭锁1例。结论产前系统性超声筛查对胎儿诊断检查中具有较高特异性和准确性,应作为产前孕妇检查的常规检查手段。%Objective To explore diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy. Methods Summary and analysis into 3 550 cases of prenatal ultrasound screening of pregnant women in between 22nd and 32nd of pregnancy. Results Among the 3 550 cases in this arti-cle, 80 of them were fetal anomaly (2.25%), including 71 single malformation and 9 multiple malformations. Five were missed diagnosed. Single malformation consisted of 17 nervous system malformations, 12 urinary system malforma-tions, 10 heart malformations, 11 digestive system malformations (including abdominal), 5 skeletal malformations, 4 respiratory system malformations, 8 neck facial malformations, 4 other forms of malformation. Five missed diagnosed cases consisted of 1 congenital heart malformation, 1 cleft palate, 1 partial bladder exstrophy, 1 talipes varus, 1 proc-tatresia. Conclusion Systematic prenatal ultrasound screening has a high value of specificity and accuracy, thus it should be a routine examination for pregnant women.

  17. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  18. Postnatal Depression Prevention Through Prenatal Intervention: A Literature Review

    Science.gov (United States)

    2006-03-17

    including increased preterm birth, small for gestational age infants, spontaneous abortion, low Apgar scores and birth complications such as increased...to have late entry to prenatal care. Utilizing the Center for Epidemiologic Studies Depression Scale (CESTS) score , the author suggested that...primiparous pregnancy, age, marital status or education levels. Identification of a woman who scores a false positive on a screening test may cause undue

  19. Prenatal management of anencephaly.

    Science.gov (United States)

    Cook, Rebecca J; Erdman, Joanna N; Hevia, Martin; Dickens, Bernard M

    2008-09-01

    About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

  20. Ex vivo cultures of glioblastoma in three-dimensional hydrogel maintain the original tumor growth behavior and are suitable for preclinical drug and radiation sensitivity screening

    Energy Technology Data Exchange (ETDEWEB)

    Jiguet Jiglaire, Carine, E-mail: carine.jiguet-jiglaire@univ-amu.fr [Aix Marseille Université, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille (France); CRO2, UMR 911, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille Cedex (France); INSERM, U911, 13005 Marseille (France); Baeza-Kallee, Nathalie; Denicolaï, Emilie; Barets, Doriane [Aix Marseille Université, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille (France); CRO2, UMR 911, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille Cedex (France); INSERM, U911, 13005 Marseille (France); Metellus, Philippe [Aix Marseille Université, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille (France); CRO2, UMR 911, Faculté de Médecine de la Timone, 27 boulevard Jean Moulin, 13284 Marseille Cedex (France); INSERM, U911, 13005 Marseille (France); APHM, Timone Hospital, Department of Neurosurgery, 13005 Marseille (France); Timone Hospital, 264 Rue Saint Pierre, 13385 Marseille Cedex 5 (France); and others

    2014-02-15

    Identification of new drugs and predicting drug response are major challenges in oncology, especially for brain tumors, because total surgical resection is difficult and radiation therapy or chemotherapy is often ineffective. With the aim of developing a culture system close to in vivo conditions for testing new drugs, we characterized an ex vivo three-dimensional culture system based on a hyaluronic acid-rich hydrogel and compared it with classical two-dimensional culture conditions. U87-MG glioblastoma cells and seven primary cell cultures of human glioblastomas were subjected to radiation therapy and chemotherapy drugs. It appears that 3D hydrogel preserves the original cancer growth behavior and enables assessment of the sensitivity of malignant gliomas to radiation and drugs with regard to inter-tumoral heterogeneity of therapeutic response. It could be used for preclinical assessment of new therapies. - Highlights: • We have compared primary glioblastoma cell culture in a 2D versus 3D-matrix system. • In 3D morphology, organization and markers better recapitulate the original tumor. • 3D-matrix culture might represent a relevant system for more accurate drug screening.

  1. Costs, effects, and savings of screening for cystic fibrosis gene carriers

    NARCIS (Netherlands)

    M.F. Wildhagen (Mark); H.B. Hilderink; J.G. Verzijl; J.B. Verheij (Joke); L. Kooij (Loes); T. Tijmstra; L.P. ten Kate; J.D.F. Habbema (Dik)

    1998-01-01

    textabstractSTUDY OBJECTIVE: Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. DESIGN: A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For p

  2. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  3. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications What happens during prenatal visits? Skip sharing on social media links Share this: Page Content What happens during ...

  4. Preconception Care and Prenatal Care

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications Preconception Care and Prenatal Care: Condition Information Skip sharing on social media links Share this: Page Content What is preconception ...

  5. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  6. A importância das provas de despistagem da bacteriúria assintomática em serviços de pré-natal The importance of screening for assymptomatical bacteriuria in pre-natal services

    Directory of Open Access Journals (Sweden)

    Cyro Ciari Junior

    1975-03-01

    Full Text Available Foram realizadas algumas provas de despistagem da bacteriúria assintomática em 103 gestantes agrupadas segundo a época de gestação, comparativamente com resultados de urocultura. Concluiu-se pela importância da prova do nitrito em tubo, para triagem inicial das bacteriúrias assintomáticas no evolver da gestação.Screening for assymptomatical bacteriuria in 103 pregnant women grouped according to the age of pregnancy was performed. The results were compared with those obtained by urocultures. The nitrite tube test proved to be important in the screening for assymptomatical bacteriuria throughout pregnancy.

  7. Can Touch Screen Tablets be Used to Assess Cognitive and Motor Skills in Early Years Primary School Children? A Cross-Cultural Study.

    Science.gov (United States)

    Pitchford, Nicola J; Outhwaite, Laura A

    2016-01-01

    Assessment of cognitive and motor functions is fundamental for developmental and neuropsychological profiling. Assessments are usually conducted on an individual basis, with a trained examiner, using standardized paper and pencil tests, and can take up to an hour or more to complete, depending on the nature of the test. This makes traditional standardized assessments of child development largely unsuitable for use in low-income countries. Touch screen tablets afford the opportunity to assess cognitive functions in groups of participants, with untrained administrators, with precision recording of responses, thus automating the assessment process. In turn, this enables cognitive profiling to be conducted in contexts where access to qualified examiners and standardized assessments are rarely available. As such, touch screen assessments could provide a means of assessing child development in both low- and high-income countries, which would afford cross-cultural comparisons to be made with the same assessment tool. However, before touch screen tablet assessments can be used for cognitive profiling in low-to-high-income countries they need to be shown to provide reliable and valid measures of performance. We report the development of a new touch screen tablet assessment of basic cognitive and motor functions for use with early years primary school children in low- and high-income countries. Measures of spatial intelligence, visual attention, short-term memory, working memory, manual processing speed, and manual coordination are included as well as mathematical knowledge. To investigate if this new touch screen assessment tool can be used for cross-cultural comparisons we administered it to a sample of children (N = 283) spanning standards 1-3 in a low-income country, Malawi, and a smaller sample of children (N = 70) from first year of formal schooling from a high-income country, the UK. Split-half reliability, test-retest reliability, face validity, convergent construct

  8. Can touch screen tablets be used to assess cognitive and motor skills in early years primary school children? A cross-cultural study

    Directory of Open Access Journals (Sweden)

    Nicola Pitchford

    2016-10-01

    Full Text Available Assessment of cognitive and motor functions is fundamental for developmental and neuropsychological profiling. Assessments are usually conducted on an individual basis, with a trained examiner, using standardised paper and pencil tests, and can take up to an hour or more to complete, depending on the nature of the test. This makes traditional standardised assessments of child development largely unsuitable for use in low-income countries. Touch screen tablets afford the opportunity to assess cognitive functions in groups of participants, with untrained administrators, with precision recording of responses, thus automating the assessment process. In turn, this enables cognitive profiling to be conducted in contexts where access to qualified examiners and standardised assessments are rarely available. As such, touch screen assessments could provide a means of assessing child development in both low- and high-income countries, which would afford cross-cultural comparisons to be made with the same assessment tool. However, before touch screen tablet assessments can be used for cognitive profiling in low-to-high-income countries they need to be shown to provide reliable and valid measures of performance. We report the development of a new touch screen tablet assessment of basic cognitive and motor functions for use with early years primary school children in low- and high-income countries. Measures of spatial intelligence, visual attention, short-term memory, working memory, manual processing speed, and manual coordination are included as well as mathematical knowledge. To investigate if this new touch screen assessment tool can be used for cross-cultural comparisons we administered it to a sample of children (N=283 spanning standards 1-3 in a low-income country, Malawi, and a smaller sample of children (N=70 from first year of formal schooling from a high-income country, the UK. Split-half reliability, test-retest reliability, face validity

  9. Predicting Risk of Prenatal Screening for Down Syndrome Using Logistic Regression Model%Logistic回归在建立产前筛查唐氏综合征风险估计模型中的应用

    Institute of Scientific and Technical Information of China (English)

    卓仁杰; 李莺; 张莉娜; 沈其君

    2016-01-01

    利用64772例12~20周筛查孕妇(正常孕妇64718例,唐氏患者54例)的孕妇血清学指标,采用Logistic回归,建立三联筛查方案和二联筛查方案的风险估计模型.采用2种方案,计算全部筛查孕妇的风险值,通过ROC曲线下面积、检出率、阳性率评价2种筛查方案的效果.结果表明:年龄、甲胎蛋白、游离人绒毛膜促性腺激素和游离雌三醇在Logistic回归模型中均有统计学意义,三联方案ROC曲线下面积大于二联方案,但无显著性差异(z统计量为1.382, P=0.1669);在同一截断值下,三联方案检出率高于二联方案,假阳性率低于二联方案,差异有统计学意义(t=-9.44, P<0.001).三联方案根据约登指数计算,最佳筛查截断值为1:400,假阳性率为4.3%.%In this study, a total of 64772 pregnant weman in gestational timeframe between 12 to 20 weeks are selected for analytical purposes, including 64718 normal pregnant weman and 54 suffering Down's syndrome. The maternal serum markers are converted to serum with multiple of median (MoM) adjusted by grouping the gestational age and weight. The MoM is adjusted by twin, smoking and diabetes in the Logistic regression model. Risk estimation is calculated for each pregnant woman using two different screening methods. Area under the curve of receiver operator characteristic (AUC), detection rate and false positive rate are calculated individually to assess the effect of these two different methods. Results show that age, alpha-fetoprotein (AFP), free human chorionic gonadotrophin (HCG) and unconjugated estriol (uE3) are significantly dominant in the Logistic regression model. The AUC of tripe serum screening is larger than that of double serum screening, but manifests no significant difference (z=1.382,P=0.166 9). With the same cutoff value, the detection rate of triple serum screening is higher than that of double serum screening, and the false positive rate of triple serum screening is lower than

  10. 妊娠中期唐氏综合征和神经管缺损的产前筛查,诊断的研究%Studies of second trimester prenatal screening and diagnosis for Down's syndrome and open neural tube defects

    Institute of Scientific and Technical Information of China (English)

    王健; 周晓; 丁显平; 袁蔓莉

    2012-01-01

    目的 对重庆地区妊娠中期的妇女进行唐氏综合征和其他先天畸形的产前筛查、诊断,以降低出生缺陷.方法 对43057例14 - 20周的孕妇采用化学发光法孕妇血中的AFP和β- HCG浓度,通过计算机软件计算危险系数(唐筛风险值≥275,神经管缺损AFP≥2.5 MoMs).对唐氏征高危的孕妇取羊水做染色体和基因诊断,神经管缺损高危者行超声波检查.结果 43057孕妇中筛查出唐氏综合征,神经管缺损,18,13三体高危2463例,占5.72%.唐氏征高危2002例,占4.65%.有1352例愿意选一步确诊,发现53例异常妊娠.306例神经管缺损高危(占0.71%)中全部做超声检查.发现9例神经管缺损的胎儿.155例(占0.36%)18,13三体高危中86例做羊水染色体,异常1例,其余虽未做进一步确诊,但有3例胎死宫内,证明也有异常妊娠.结论 唐氏综合征和神经管缺陷的产前筛查并结合其他方法进行诊断.对降低出生缺陷有积极的意义.%Objective; This study was To identify in the utilization of second trimester maternal serum screening and prenatal diagnosis of Down's yndrome and other congenital abnormality to pregnant women in regional Chongqing for reducing the frequency of natal defect. Methods; Detect the value of AFP and (3 - HCG in the serum of 43057 pregnant women at about 14th ~20th weeks by chemilu-minescence in the AFP and β - HCG concentration and calculate their risk coefficient with professional computer software (The risk cut - off levels were 1: 275 for Down's syndrome, 2. 5 MoMs alpha fetoprotein for open neural tube defects ). Analyze karyotype in amniotic fluid and carry out gene diagnosis to Down's syndrome high risk pregnant women. Perform ultrasonography to neural tube defect (NTD) high risk cases. Results; In 43057 pregnant women, 2463 cases (5. 72% ) were high risk, 2002 (4. 65% ) high risk cases of Down's syndrome, 306 (0. 71% ) high risk cases of NTD and 155 (0. 36% ) high risk cases of 18

  11. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands.

    Science.gov (United States)

    van El, Carla Geertruida; Pieters, Toine; Cornel, Martina

    2012-04-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of society. Whereas genetic testing in clinical genetic practice was widely accepted, prenatal screening at a population level met with unease. Concerns were raised regarding social pressure to screen: the sum of individual choice might result in a 'collective eugenics'. The government's involvement also raised suspicion: actively offering screening evoked associations with eugenic population policies from the first half of the 20th century. By reconstructing elements of policy and public debate on prenatal screening in the Netherlands from the past 30 years, this article discusses how the government has gradually changed its role in balancing the interest of the individual and the collective on genetic reproductive issues. Against a background of increasing knowledge about and demand for prenatal screening among the population, governmental policy changed from focusing on protection by banning screening toward facilitating screening in a careful and ethically sound way by providing adequate information, decision aids and quality assessment instruments. In the meanwhile, invigorating democracy in public debate may entail discussing concepts of 'the good life' in relation to living with or without impairments and dealing with genetic information about oneself or one's offspring.

  12. Screening for Chlamydia trachomatis in Low-Risk Obstetric Patients

    Directory of Open Access Journals (Sweden)

    Robert K. Gribble

    1994-01-01

    Full Text Available Objective: The purpose of this study was to evaluate the prevalence of Chlamydia trachomatis in our rural obstetric population and assess the appropriateness of selective vs. universal prenatal screening.

  13. Retrospective review of prenatal care and perinatal outcomes in a group of uninsured pregnant women.

    Science.gov (United States)

    Jarvis, Catherine; Munoz, Marie; Graves, Lisa; Stephenson, Randolph; D'Souza, Vinita; Jimenez, Vania

    2011-03-01

    To assess the adequacy of prenatal care and perinatal outcomes for uninsured pregnant women at two primary care centres in Canada. We conducted a retrospective case comparison study of uninsured women presenting for prenatal care between 2004 and 2007 (n = 71). Control subjects (n = 72) were chosen from provincially insured women presenting for prenatal care during the same period. A modified Kotelchuck Index was used to assess adequacy of care. Frequency of routine prenatal testing (blood tests, ultrasound, cervical swabs, Pap testing, and genetic screening) was compared. Perinatal outcomes assessed included gestational age and birth weight. Uninsured pregnant women presented for initial care 13.6 weeks later than insured women (at 25.6 weeks vs. 12.0 weeks, P care providers (6.6 vs. 10.7, P = 0.05). Using a modified Kotelchuck Adequacy of Prenatal Care Utilization Index, uninsured women were more likely to be categorized as receiving "inadequate care" (uninsured 61.9% vs. insured 11.7%, P care of uninsured pregnant women in Canada. Women in this category presented late for prenatal care, were less likely to have adequate screening tests, and were more likely to receive "inadequate care" as defined by the modified Kotelchuck Index. This information may be valuable in helping to plan programs to improve access to timely and adequate medical care for uninsured pregnant women.

  14. Prenatal stress is a vulnerability factor for altered morphology and biological activity of microglia cells.

    Directory of Open Access Journals (Sweden)

    Joanna eŚlusarczyk

    2015-03-01

    Full Text Available Several lines of evidence suggest that the dysregulation of the immune system is an important factor in the development of depression. Microglia are the resident macrophages of the central nervous system and a key player in innate immunity of the brain. We hypothesized that prenatal stress (an animal model of depression as a priming factor could affect microglial cells and might lead to depressive-like disturbances in adult male rat offspring. We investigated the behavioral changes (sucrose preference test, Porsolt test, the expression of C1q and CD40 mRNA and the level of microglia (Iba1 positive in 3 month old control and prenatally stressed male offspring rats. In addition, we characterized the morphological and biochemical parameters of potentially harmful (NO, iNOS, IL-1β, IL-18, IL-6, TNF-α, CCL2, CXCL12, CCR2, CXCR4 and beneficial (IGF-1, BDNF phenotypes in cultures of microglia obtained from the cortices of 1-2 days old control and prenatally stressed pups. The adult prenatally stressed rats showed behavioral (anhedonic- and depression-like disturbances, enhanced expression of microglial activation markers and an increased number of Iba1-immunopositive cells in the hippocampus and frontal cortex. The morphology of glia was altered in cultures from prenatally stressed rats, as demonstrated by immunofluorescence microscopy. Moreover, in these cultures, we observed enhanced expression of CD40 and MHC II and release of pro-inflammatory cytokines, including IL-1β, IL-18, TNF-α and IL-6. Prenatal stress significantly up-regulated levels of the chemokines CCL2, CXCL12 and altered expression of their receptors, CCR2 and CXCR4 while IGF-1 production was suppressed in cultures of microglia from prenatally stressed rats.Our results suggest that prenatal stress may lead to excessive microglia activation and contribute to the behavioral changes observed in depression in adulthood.

  15. 单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究%Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    白小艺; 章钧; 田琪; 林俊伟; 侯红瑛

    2015-01-01

    [ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.%目的:探讨单核苷酸多态性芯片( SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异( CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中, SNP array检测发现176例CNVs,其中良性CNVs 106例,

  16. Using Internet to recruit immigrants with language and culture barriers for tobacco and alcohol use screening: a study among Brazilians.

    Science.gov (United States)

    Carlini, Beatriz H; Safioti, Luciana; Rue, Tessa C; Miles, Lyndsay

    2015-04-01

    Limited English proficient (LEP) individuals face disparities in accessing substance abuse treatment, but little is known on how to reach this population. This study aimed to test online recruitment methods for tobacco and alcohol screening among LEP Portuguese speakers. The study was advertised in Portuguese using Facebook, Google, online newsletters and E-mail. Participants clicked ads to consent and access a screening for tobacco and alcohol dependence. Ads yielded 690 screening responses in 90 days. Respondents had a mean age of 42.7 (SD 12), with a higher proportion of women than men, 95% born in Brazil with high levels of LEP and low levels of acculturation. Facebook ads yielded 41.4% of responses, and were the lowest cost recruitment channel ($8.9, $31.10 and $20.40 per respondent, hazardous drinker and smoker, respectively). Online recruitment of LEP populations is feasible. Future studies should test similar strategies in other LEP groups.

  17. Prenatal exercise research.

    Science.gov (United States)

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  18. Establishment of an in vitro Peyer's patch cell culture system correlative to in vivo study using intestine and screening of lactic acid bacteria enhancing intestinal immunity.

    Science.gov (United States)

    Jin, Hekui; Higashikawa, Fumiko; Noda, Masafumi; Zhao, Xingrong; Matoba, Yasuyuki; Kumagai, Takanori; Sugiyama, Masanori

    2010-01-01

    Some lactic acid bacteria (LAB) are known as representative of probiotics. To screen LAB effective to enhance intestinal immunity, in the present study, we developed an accurate and convenient in vitro evaluation system using Peyer's patch cells (PP-cells) isolated from the mice intestine. We observed that the amount of immunoglobulin A (IgA) produced by PP-cells co-cultured with LAB was well correlative to that in PP-cells, intestine and feces isolated from live mice after oral administration of LAB [correlation coefficient (r)=0.888, 0.883, and 0.920, respectively]. In addition, using this in vitro system, we suggest that the IgA level of PP-cells co-culturing with plant-derived LAB might be more enhanced than with animal-derived LAB.

  19. Comparative effectiveness of a prenatal medical food to prenatal vitamins on hemoglobin levels and adverse outcomes: a retrospective analysis.

    Science.gov (United States)

    Bentley, Susan; Hermes, Amy; Phillips, Diane; Daoud, Yahya A; Hanna, Sylvia

    2011-02-01

    The role of folate in pregnancy is well established, with most prenatal vitamins (PNVs) on the market containing at least 800 μg of folic acid. Folic acid must be converted in the body to L-methylfolate, the natural and biologically active form of folate. The role of vitamin B(12) in pregnancy is less characterized, and most PNV formulations contain only 0 to 12 μg. The present study was undertaken to evaluate whether taking a prenatal medical food containing L-methylfolate and much higher doses of vitamin B(12) results in higher hemoglobin levels and thus, a lower incidence of anemia during pregnancy. The objective of this exploratory study was to evaluate the effects of the prenatal medical food versus standard PNVs on hemoglobin levels and adverse outcomes throughout pregnancy. For this retrospective analysis, we reviewed the charts of female patients taking either a prenatal medical food or standard PNV during pregnancy. Hemoglobin levels measured at initiation of prenatal care, end of second trimester, and delivery were recorded. Patients who had received additional iron supplementation, beyond that contained in the prenatal medical food or PNV they were taking and before anemia screening at the end of the second trimester, were excluded from the study. Fisher exact test, χ(2) test, student t test, and ANOVA were used to evaluate differences between the treatment groups. Data were analyzed from 112 charts: 58 patients (51.8%) were taking the prenatal medical food; 54 patients (48.2%) were taking standard PNVs. Mean (SD) age at first prenatal visit was 27 (4.6) years in the medical food group and 28.8 (3.5) years in the PNV group (P = 0.024). Mean (SD) body mass indices were 29.1 (6.5) and 31.7 (8.9) in the medical food and PNV groups, respectively (P = NS). In the medical food group, 35 women (60.3%) were white/Caucasian, 17 (29.3%) were African American, and 6 (10.4%) were of other races. In the PNV group, 24 women (44.4%) were white/Caucasian, 25 (46

  20. Vitellogenin synthesis in primary cultures of fish liver cells as endpoint for in vitro screening of the (anti)estrogenic activity of chemical substances.

    Science.gov (United States)

    Navas, José M; Segner, Helmut

    2006-10-25

    Concern over possible adverse effects of endocrine-disrupting compounds on fish has caused the development of appropriate testing methods. In vitro screening assays may provide initial information on endocrine activities of a test compound and thereby may direct and optimize subsequent testing. Induction of vitellogenin (VTG) is used as a biomarker of exposure of fish to estrogen-active substances. Since VTG induction can be measured not only in vivo but also in fish hepatocytes in vitro, the use of VTG induction response in isolated fish liver cells has been suggested as in vitro screen for identifying estrogenic-active substances. The main advantages of the hepatocyte VTG assay are considered its ability to detect effects of estrogenic metabolites, since hepatocytes in vitro remain metabolically competent, and its ability to detect both estrogenic and anti-estrogenic effects. In this article, we critically review the current knowledge on the VTG response of cultured fish hepatocytes to (anti)estrogenic substances. In particular, we discuss the sensitivity, specificity, and variability of the VTG hepatocyte assay. In addition, we review the available data on culture factors influencing basal and induced VTG production, the response to natural and synthetic estrogens as well as to xenoestrogens, the detection of indirect estrogens, and the sources of assay variability. The VTG induction in cultured fish hepatocytes is clearly influenced by culture conditions (medium composition, temperature, etc.) and culture system (hepatocyte monolayers, aggregates, liver slices, etc.). The currently available database on estrogen-mediated VTG induction in cultured teleost hepatocytes is too small to support conclusive statements on whether there exist systematic differences of the VTG response between in vitro culture systems, VTG analytical methods or fish species. The VTG hepatocyte assay detects sensitively natural and synthetic estrogens, whereas the response to

  1. Rectal culture screening for vancomycin-resistant enterococcus in chronic haemodialysis patients: false-negative rates and duration of colonisation.

    Science.gov (United States)

    Park, I; Park, R W; Lim, S-K; Lee, W; Shin, J S; Yu, S; Shin, G-T; Kim, H

    2011-10-01

    Infection or colonisation with vancomycin-resistant enterococci (VRE) is common in chronic haemodialysis (HD) patients. However, there is limited information on the duration of VRE colonisation or on the reliability of consecutive negative rectal cultures to determine the clearance of VRE in chronic HD patients. Chronic HD patients from whom VRE was isolated were examined retrospectively. Rectal cultures were collected more than three times, at least one week apart, between 1 June 2003 and 1 March 2010. The results of the sequential VRE cultures and patients' data were analysed. Among 812 patients from whom VRE was isolated, 89 were chronic HD patients and 92 had three consecutive negative cultures. It took 60.7 ± 183.9 and 111.4 ± 155.4 days to collect three consecutive negative cultures in the 83 non-chronic haemodialysis patients and nine chronic HD patients, respectively (P = 0.011). The independent risk factors for more than three negative sequential rectal cultures were glycopeptide usage [odds ratio (OR): 2.155; P = 0.003] and length of hospital stay (OR: 1.009; P = 0.001). After three consecutive negative rectal cultures, two of six chronic HD patients and 10 of 36 non-HD patients were culture positive again. In conclusion, a significant proportion of patients colonised with VRE cannot be detected by three-weekly rectal cultures, and the duration of VRE colonisation in chronic haemodialysis patients tends to be prolonged. These results may be contributing to the continued increase in the prevalence of VRE.

  2. Application of noninvasive prenatal testing in the screening of fetal aneuploidy%无创产前基因检测在胎儿染色体非整倍体筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    梅瑾; 王小华; 王昊; 杨晓楠; 方锴; 韩渭

    2014-01-01

    目的 评估无创产前基因检测技术(noninvasive prenatal testing,NIPT)在胎儿染色体非整倍体产前筛查与诊断中的临床应用价值.方法 针对2012年5月至2013年4月在杭州市第一人民医院集团产前诊断中心就诊的高龄、唐氏生化筛查高风险和中等风险孕妇,采用高通量大规模平行测序方法进行胎儿染色体非整倍体的无创产前检测.对检测结果为高风险者进一步进行染色体核型分析,对检测结果为低风险的孕妇随访妊娠结局,评估NIPT对染色体非整倍体检测的敏感性和特异性.结果 2 358例检测孕妇中,高风险23例,染色体核型分析结果显示,NIPT检测21三体、18三体的敏感性为100%,检测13三体的敏感性为0.2 335例低风险妊娠结局随访,B超检查胎儿结构异常7例,未发现21三体综合征患儿出生.结论 NIPT对21三体、18三体综合征检测具有较高的敏感性和特异性.NIPT作为唐氏筛查的一种常规补充手段,可避免95%以上的唐氏生化筛查假阳性病例进行有创性的产前诊断.

  3. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    Directory of Open Access Journals (Sweden)

    Gekas J

    2016-02-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

  4. Importance of "Guidelines for performing fetal cardiac scan" in prenatal screening for fetal congenital heart disease%"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

    Institute of Scientific and Technical Information of China (English)

    徐燕; 胡娅莉; 茹彤; 顾燕; 杨燕; 戴晨燕

    2009-01-01

    Objective To investigate the application of "Guidelines for performing fetal cardiac scan", issued by the International Society of Ultrasound in Obstetries and Gynecology in 2006, in prenatal screening of fetal congenital heart disease (CHD). Method Totally, 5000 singleton pregnancies presented at the Maternal-Fetal Medical Center of the Affiliated Drum Tower Hospital of Nanjing University Medical School from September 2006 to July 2007, for prenatal screening were included in this study, with the median maternal age of 28 ( range, 18~48 ) and the median gestation of 27 ( range, 18~40 ) weeks. Ultrasound screenings were performed on each fetal heart according to "Guidelines for performing fetal cardiac scan" via the four-chamber and outflow tracts & three-vessel views and fetal echocardiographies were further conducted for suspected cases. Once congenital heart disease was confirmed, amniocentesis or cordocentesis was suggested for fetal karyotyping for ongoing pregnancies and autopsy was performed when the pregnancy was terminated after formal consent. Bom babies were followed up at 2~6 months of age using echocardiography. Result The four-chamber views were successfully obtained in 97.64% (4882/5000) of all the pregnancies , among which the left ventricular and right ventricular outflow tracts and three-vessel views were obtained in 87.69% ( 4281/4882 ), 82.51% ( 4028/4882 ) and 96.29% ( 4701/4882 ), respectively. Higher successful rate was found in the second trimester than the third trimester in obtaining the standard views (P<0.05). Finally, 73 (1.50%) among the 4882 cases were diagnosed as CHD. Fifty of them were diagnosed prenatally (24 cases in the second trimester and 26 cases in the third trimester) and 23 were missed and 1 misdiagnosed by prenatal ultrasound. Eighteen cases were found with extracardiac malformations. Autopsy was performed in 19 CHD which diagnosed prenatally, and all autopsy reports were consistent with ultrasound foundings. Twelve

  5. Neurodevelopmental Outcomes of Prenatal Stress

    Directory of Open Access Journals (Sweden)

    M. Genco Usta

    2012-03-01

    Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

  6. Screening the natural habitat: New peptaibiotics from specimens and pure cultures of the fungicolous fungus Hypocrea pulvinata

    DEFF Research Database (Denmark)

    Roehrich, C. R.; Iversen, Anita; Degenkolb, T.

    2012-01-01

    In order to further investigate the significance of antibiotics for the producing organism(s) in the natural habitat, we screened specimens of the fungicolous fungus Hypocrea pulvinata growing on its natural hosts Piptoporus betulinus and Fomitopsis pinicola1. Using a peptaibiomics approach2, we...

  7. Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

    Science.gov (United States)

    Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

    2013-09-01

    To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

  8. Towards the development of a common starter culture for fufu and usi (edible starch): Screening for potential starters

    OpenAIRE

    Kubrat A. Oyinlola; Onilude, Anthony A.; Oluwaseun E. Garuba

    2016-01-01

    Fermented cassava products like fufu and usi are important staple foods in many African homes. Natural fermentation time is usually long resulting in slower acidification and inconsistent nutritional composition of products which could be overcome with the use of starter culture. However, most available starters are used for single food fermentation and are uneconomical. This necessitates the development of a starter culture for multiple related food products to reduce cost. Hence, this study...

  9. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  10. cultural

    Directory of Open Access Journals (Sweden)

    Irene Kreutz

    2006-01-01

    Full Text Available Es un estudio cualitativo que adoptó como referencial teorico-motodológico la antropología y la etnografía. Presenta las experiencias vivenciadas por mujeres de una comunidad en el proceso salud-enfermedad, con el objetivo de comprender los determinantes sócio-culturales e históricos de las prácticas de prevención y tratamiento adoptados por el grupo cultural por medio de la entrevista semi-estructurada. Los temas que emergieron fueron: la relación entre la alimentación y lo proceso salud-enfermedad, las relaciones con el sistema de salud oficial y el proceso salud-enfermedad y lo sobrenatural. Los dados revelaron que los moradores de la comunidad investigada tienen un modo particular de explicar sus procedimientos terapéuticos. Consideramos que es papel de los profesionales de la salud en sus prácticas, la adopción de abordajes o enfoques que consideren al individuo en su dimensión sócio-cultural e histórica, considerando la enorme diversidad cultural en nuestro país.

  11. A transfer-less, multi-well liquid culture feeding system for screening small molecules that affect the longevity of Caenorhabditis elegans.

    Science.gov (United States)

    Fitzgerald, Vanessa; Mensack, Meghan; Wolfe, Pamela; Thompson, Henry

    2009-12-01

    Agricultural sciences rely almost entirely on chemical assays to screen the thousands of crop cultivars generated in a crop improvement program for potential human health benefits. This situation exists in part because most animal models are expensive to implement, utilize large amounts of plant material, and require specialized facilities and technical training. A cost-effective, high-throughput animal model to screen crop extracts for small molecules with biological activity related to human health benefits would provide a much-needed resource. Here we introduce a new, relatively high-throughput method incorporating the microscopic Caenorhabditis elegans nematode, which is suitable for screening chemical extracts for bioactivity without the need for robotics. This system was chosen because longevity extension in C. elegans has been previously associated with human health benefits. Through the use of cell culture inserts, C. elegans can be exposed to fresh crop extracts daily throughout their lifespan without mechanical manipulation of the worm, thus minimizing stress and creating an environment suitable for experiments measuring longevity. Additionally, the duration of longevity experiments can be reduced by using type II right censoring in experimental design and survival analyses.

  12. Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

    Directory of Open Access Journals (Sweden)

    Mario Cortina-Borja

    2010-10-01

    Full Text Available BACKGROUND: The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD of congenital toxoplasmosis is not known. METHODS AND FINDINGS: Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%. 23/293 (8% fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71. This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15 after maternal seroconversion at 10 weeks, and 18 (9-75 at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95. The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%. CONCLUSION: The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

  13. [Communication skills for prenatal counselling].

    Science.gov (United States)

    Bitzer, J; Tschudin, S; Holzgreve, W; Tercanli, S

    2007-04-18

    Prenatal counselling is characterized by specific characteristics: A):The communication is about the values of the pregnant woman and her relationship with the child to be. B) The communication deals with patient's images and emotions. C) It is a communication about risks, numbers and statistics. D) Physician and patient deal with important ethical issues. In this specific setting of prenatal diagnosis and care physicians should therefore learn to apply basic principles of patient-centred communication with elements of non directive counselling, patient education and shared decision making. These elements are integrated into a process which comprises the following "steps": 1. Clarification of the patient's objectives and the obstetrician's mandate. 2. The providing of individualized information and education about prenatal tests and investigations. 3. Shared decision making regarding tests and investigations 4. Eventually Breaking (bad, ambivalent) news. 5. Caring for patients with an affected child.

  14. The combined QF-PCR and cytogenetic approach in prenatal diagnosis.

    Science.gov (United States)

    Tekcan, Akin; Tural, Sengul; Elbistan, Mehmet; Kara, Nurten; Guven, Davut; Kocak, Idris

    2014-11-01

    In this study, the importance of quantitative fluorescence polymerase chain reaction (QF-PCR) aneuploidy diagnosis test which provides earlier and easier results were discussed. The cell cultures and DNA isolations were performed on 100 amniotic fluids. DNA isolations were made from peripheral blood samples of mothers who had blood-stained amniotic fluid samples. The reasons of references of these pregnant women to our division were increased maternal age, positive double/triple screening test and fetal anomaly history. QF-PCR applied to 19 short tandem repeat markers in the chromosomes 13, 18, 21 and genes X and Y chromosomes. All electropherogram peaks were evaluated on ABI3130. Thirty two (32%) samples have high maternal age, seven (7%) have fetal anomaly and the others have double/triple screening test positivity. Ninety-nine (99%) of the 100 amniotic fluid samples were resulted, but one (1%) of them could not examined because of the culture failure. The maternal contamination rates were determined as 3%. Of 100 samples, 2 had trisomy 21 (2%), 1 had trisomy 13 (1%), 1 had structural abnormalities (1%) and the others (97%) have not any aneuploidy. The results of QF-PCR were in compatible with the results of cell culture and chromosome analysis. Although QF-PCR is an easier and an earlier test, it has a limitation of not to able to scan full genome. It is also sensitive for maternal contamination, so it should be tested together with maternal blood samples. QF-PCR aneuploidy test is the fastest diagnostic test for prenatal diagnosis and so it provides less stressful period for pregnant women.

  15. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD