WorldWideScience

Sample records for providing prenatal testing

  1. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Prenatal Genetic Screening Tests Home For Patients Search FAQs Prenatal ... Screening Tests FAQ165, July 2017 PDF Format Prenatal Genetic Screening Tests Pregnancy What is prenatal genetic testing? ...

  2. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Prenatal Genetic Diagnostic Tests Home For Patients Search FAQs Prenatal ... Pamphlets - Spanish FAQ164, September 2016 PDF Format Prenatal Genetic Diagnostic Tests Pregnancy What is prenatal genetic testing? ...

  3. Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.

    Science.gov (United States)

    Benn, Peter; Chapman, Audrey R

    2016-04-01

    Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties. NIPT is an advanced screening test for trisomies 21, 18, and 13 that was initially limited to women at high risk for an affected pregnancy. It is now recognized as suitable for all women. The testing has been expanded to include sex chromosome abnormalities and some microdeletion syndromes. Some ethicists are concerned about inclusion of disorders that have less severe phenotypes. Clinical providers have experienced difficulty in maintaining an up-to-date knowledge about the scope of NIPT, differences between tests, who should be offered the testing, performance of tests, reasons for false-positive results, and optimal patient management following positive results. Some of the practical difficulties associated with the introduction can be attributed to this knowledge gap. There remain some important ethical issues associated with NIPT. We believe that the same ethical and legal principles that were considered in the justification of conventional prenatal screening can be used to assess the appropriateness of additional NIPT applications.

  4. Noninvasive prenatal testing.

    Science.gov (United States)

    Lo, Jamie O; Cori D, Feist; Norton, Mary E; Caughey, Aaron B

    2014-02-01

    Noninvasive prenatal testing (NIPT) refers to recently developed genetic tests of the maternal serum that allow higher detection rates of trisomy 21 and other chromosomal aneuploidies in high-risk pregnancies. Noninvasive prenatal test analyzes cell-free DNA (cfDNA) in the maternal serum. Approximately 3% to 15% of cfDNA in the maternal blood is of fetal origin. Analysis of cfDNA can help identify fetuses affected with trisomy 21 and several other fetal aneuploidies. Testing can be performed after 9 to 10 weeks' gestation and has a higher sensitivity and specificity for trisomy 21 than other aneuploidy screening test. Noninvasive prenatal test has been studied and validated in singleton pregnancies at risk for trisomy 21 secondary to advanced maternal age, an abnormal serum screen, personal or family history of aneuploidy, or abnormal ultrasound findings, if these are suggestive of trisomy 13, 18, or 21. The utilization of NIPT for genetic screening has increased rapidly since introduction of the first clinical test in October 2011. Currently, there are limitations to NIPT including the possibility of test failure (2.6%-5.4%) and the focus on only the common trisomies. Noninvasive prenatal test is a screening test, and both false-positive (0.2%-1%) and false-negative results can occur. As the technology for NIPT is further evaluated, this test is likely to be increasingly used for prenatal screening. This review provides the obstetric clinician with an update of the current issues concerning NIPT.

  5. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... Advocacy For Patients About ACOG Prenatal Genetic Testing Chart (Infographic) Home For Patients Search FAQs Prenatal Genetic Testing Chart (Infographic) PFSI010 ››› Weeks 1–4 Weeks 5–8 ...

  6. Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers.

    Science.gov (United States)

    Skirton, Heather; Goldsmith, Lesley; Jackson, Leigh; Lewis, Celine; Chitty, Lyn S

    2015-12-01

    The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet. The aim of this systematic review of websites advertising non-invasive prenatal testing for aneuploidy was to explore the nature of the information being provided to potential users. We systematically searched two Internet search engines for relevant websites using the following terms: 'prenatal test', 'antenatal test', 'non-invasive test', 'noninvasive test', 'cell-free fetal DNA', 'cffDNA', 'Down syndrome test' or 'trisomy test'. We examined the first 200 websites identified through each search. Relevant web-based text was examined, and key topics were identified, tabulated and counted. To analyse the text further, we used thematic analysis. Forty websites were identified. Whilst a number of sites provided balanced, accurate information, in the majority supporting evidence was not provided to underpin the information and there was inadequate information on the need for an invasive test to definitely diagnose aneuploidy. The information provided on many websites does not comply with professional recommendations. Guidelines are needed to ensure that companies offering prenatal testing via the Internet provide accurate and comprehensible information. © 2015 John Wiley & Sons, Ltd.

  7. Informed consent - Providing information about prenatal examinations

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

    to empower women making an informed consent. Information on Down syndrome is often confined and limitations of screenings tests rarely mentioned.  Understanding is better achieved by presenting the risk estimate as a numerical probability compared to a verbal explanation. Rates are better understood than......Prenatal care has gradually moved away from paternalism, to a state where patient autonomy and information is vital. It is known from other health care settings that the way information is presented affects understanding.The objective is to summarize current knowledge on aspects of informing...... pregnant women about prenatal examinations. Women's knowledge, decisional conflict, satisfaction and anxiety will be explored as compared with different ways and different groups of health professionals providing information. To what extent information empowers informed decision making will be explored...

  8. "I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.

    Science.gov (United States)

    Gammon, B L; Kraft, S A; Michie, M; Allyse, M

    2016-01-01

    The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes. Since the introduction of cfDNA screening into practice in 2011, the uptake and scope have increased dramatically. Prenatal care providers are under pressure to stay up to date with rapidly changing cfDNA screening panels, manage increasing patient demands, and keep up with changing test costs, all while attempting to use the technology responsibly and ethically. While clinical literature on cfDNA screening has shown benefits for specific patient populations, it has also identified significant misunderstandings among providers and patients alike about the power of the technology. The unique features of cfDNA screening, in comparison to established prenatal testing technologies, have implications for informed decision-making and genetic counselling that must be addressed to ensure ethical practice. This study explored the experiences of prenatal care providers at the forefront of non-invasive genetic screening in the United States to understand how this testing changes the practice of prenatal medicine. We aimed to learn how the experience of providing and offering this testing differs from established prenatal testing methodologies. These differences may necessitate changes to patient education and consent procedures to maintain ethical practice. We used the online American Congress of Obstetricians and Gynecologists Physician Directory to identify a systematic sample of five prenatal care providers in each U.S. state and the District of Columbia. Beginning

  9. Non-Invasive Prenatal Testing

    OpenAIRE

    Ekici, Cemal

    2015-01-01

    The rate of newborns with trisomy 21 (Down syndrome) who have been referred to our pediatric newborn clinic is very high. This shows that prenatal screening in the region is not carried out well. Prenatal diagnosis and screening methods include invasive prenatal diagnosis methods (amniocentesis, chorionic villus sampling (CVS), and cordocentesis) and non-invasive prenatal diagnosis (NIPT) which cell free fetal DNA (cffDNA) screening of maternal blood samples. After the discovery of the signs ...

  10. Jacobsen syndrome detected by noninvasive prenatal testing.

    Science.gov (United States)

    Lo, Jamie O; Feist, Cori D; Hashima, Jason; Shaffer, Brian L

    2015-02-01

    Noninvasive prenatal testing has a high detection rate of common fetal chromosomal aneuploidies. However, detection of additional chromosome abnormalities has not been well described or validated. We report a case of Jacobsen syndrome, a congenital disorder involving deletion of chromosome 11q, detected by noninvasive prenatal testing at 14 weeks of gestation and confirmed on neonatal testing with array chromosomal genomic hybridization. Noninvasive prenatal testing should be considered when multiple fetal anomalies are present and invasive testing is declined. As the clinical application of noninvasive prenatal testing continues to evolve, additional submicroscopic chromosomal information may be clinically helpful and should be confirmed with diagnostic testing until larger studies help further define the screening characteristics of noninvasive prenatal testing.

  11. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].

    Science.gov (United States)

    Skirton, Heather; Goldsmith, Lesley; Jackson, Leigh; Lewis, Celine; Chitty, Lyn

    2014-05-01

    For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

  12. 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 has...... 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...

  13. 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

  14. 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

    2015-01-01

    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 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

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

    NARCIS (Netherlands)

    Dondorp, W.; de Wert, G.; Bombard, Y.; Bianchi, D.W.; Bergmann, C.; Borry, P.; Chitty, L.S.; Fellmann, F.; Forzano, F.; Hall, A.; Henneman, L.; Howard, H.C.; Lucassen, A.; Ormond, K.; Peterlin, B.; Radojkovic, D.; Rogowski, W.; Soller, M.; Tibben, A.; Tranebjaerg, L.; van El, C.G.; Cornel, M.C.

    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 has

  16. Surrogate pregnancy: a guide for Canadian prenatal health care providers.

    Science.gov (United States)

    Reilly, Dan R

    2007-02-13

    Providing health care for a woman with a surrogate pregnancy involves unique challenges. Although the ethical debate surrounding surrogacy continues, Canada has banned commercial, but not altruistic, surrogacy. In the event of a custody dispute between a surrogate mother and the individual(s) intending to parent the child, it is unclear how Canadian courts would rule. The prenatal health care provider must take extra care to protect the autonomy and privacy rights of the surrogate. There is limited evidence about the medical and psychological risks of surrogacy. Whether theoretical concerns about these risks are clinically relevant remains unknown. In the face of these uncertainties, the prenatal health care provider should have a low threshold for seeking obstetrical, social work, ethical and legal support.

  17. Communicating risk in prenatal genetic testing.

    Science.gov (United States)

    Gates, Elena A

    2004-01-01

    Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.

  18. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

    NARCIS (Netherlands)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B. M.; Cornel, Martina C.; Sistermans, Erik A.

    2016-01-01

    Cell-free DNA (cf DNA) 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

  19. Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

    DEFF Research Database (Denmark)

    Jiang, Haojun; Xie, Yifan; Li, Xuchao

    2016-01-01

    Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we...... developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels...... paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future....

  20. Educational needs of nurses to provide genetic services in prenatal care: A cross-sectional study from Turkey.

    Science.gov (United States)

    Seven, Memnun; Eroglu, Kafiye; Akyüz, Aygül; Ingvoldstad, Charlotta

    2017-09-01

    The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors. Also, there is a lack of knowledge and interest in genetics among prenatal nurses and in clinical practice to provide education and counseling related to genetics in prenatal settings as a part of prenatal care. © 2017 John Wiley & Sons Australia, Ltd.

  1. Recent advances in prenatal genetic screening and testing

    Science.gov (United States)

    Van den Veyver, Ignatia B.

    2016-01-01

    The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy. PMID:27853526

  2. Discordant non-invasive prenatal testing (NIPT)

    DEFF Research Database (Denmark)

    Hartwig, Tanja Schlaikjaer; Ambye, Louise; Sørensen, Steen

    2017-01-01

    With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false...... biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we...... suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd....

  3. 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

  4. A new era in prenatal care: non-invasive prenatal testing in Switzerland.

    Science.gov (United States)

    Manegold-Brauer, Gwendolin; Kang Bellin, Anjeung; Hahn, Sinuhe; De Geyter, Christian; Buechel, Johanna; Hoesli, Irene; Lapaire, Olav

    2014-02-04

    Prenatal care has been significantly influenced by the introduction of non-invasive prenatal testing (NIPT) for aneuploidies in 2012. The aim of this study was to describe the current impact of NIPT on prenatal care. We performed a retrospective data analysis including all women with singleton pregnancies who presented for first trimester screening (FTS) between 1 October 2011 and 30 March 2013 and those seeking NIPT. According to the results of FTS the women were categorised into three risk groups: low risk for aneuploidy (1:50). They were counselled about the available options for invasive prenatal testing (IPT) and NIPT available at the time of FTS. The nine months before and after the introduction of NIPT were evaluated regarding further testing after FTS. In total, 951 women were included: 505 examinations (group 1) were carried out before NIPT became available, 446 (group 2) thereafter. In group 2, 9.0% (40/446) had NIPT. Here, 60.0% (24/40) had a low risk according to FTS. In group 2 there was an increase of 3.6% of additional prenatal tests after FTS. The greatest increase was noted in the intermediate-risk category (10.7%). The number of invasive prenatal tests decreased by 67.4%. We observed a notable increase in prenatal testing after the implementation of NIPT. NIPT is an additional test for women who need more reassurance. Since the options for pregnant women become more complex and the costs of NIPT are high, prenatal counselling has become more challenging.

  5. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.

    Science.gov (United States)

    Kou, K O; Poon, C F; Kwok, S L; Chan, K Yk; Tang, M Hy; Kan, A Sy; Leung, K Y

    2016-06-01

    In Hong Kong, universal combined first-trimester screening for Down's syndrome was started as a 'free service' in July 2010. Non-invasive prenatal testing was available as a self-financed item in August 2011. This study aimed to determine whether the introduction of non-invasive prenatal testing as a contingent approach influenced the indications for invasive prenatal diagnosis and the consequent prenatal detection of Down's syndrome. This historical cohort study was conducted at the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital in Hong Kong. We compared the indications for invasive prenatal diagnosis and prenatal detection of Down's syndrome in singleton pregnancies 1 year before and 2 years following the availability of non-invasive prenatal testing as a contingent test after a positive aneuploidy test. All pregnant women who attended our hospital for counselling about universal Down's syndrome screening between August 2010 and July 2013 were recruited. A total of 16 098 women were counselled. After the introduction of non-invasive prenatal testing, the invasive prenatal diagnosis rate for a positive aneuploidy screening reduced from 77.7% in 2010-11 to 68.8% in 2012-13. The new combined conventional plus non-invasive prenatal testing strategy was associated with a lower false-positive rate (6.9% in 2010-11 vs 5.2% in 2011-12 and 4.9% in 2012-13). There was no significant increase in invasive prenatal diagnosis for structural anomalies over the years. There was no significant trend in the overall prenatal detection rate of Down's syndrome (100% 1 year before vs 89.1% 2 years after introduction of non-invasive prenatal testing). Four (2.6%) of 156 women who underwent non-invasive prenatal testing for a screen-positive result had a high-risk result for trisomy 21, which was subsequently confirmed by invasive prenatal diagnosis. There were no false-negative cases. The introduction of non-invasive prenatal testing as a contingent approach reduced the invasive

  6. Current status of non-invasive prenatal testing in Japan.

    Science.gov (United States)

    Samura, Osamu; Sekizawa, Akihiko; Suzumori, Nobuhiro; Sasaki, Aiko; Wada, Seiji; Hamanoue, Haruka; Hirahara, Fumiki; Sawai, Hideaki; Nakamura, Hiroaki; Yamada, Takahiro; Miura, Kiyonori; Masuzaki, Hideaki; Nakayama, Setsuko; Okai, Takashi; Kamei, Yoshimasa; Namba, Akira; Murotsuki, Jun; Tanemoto, Tomohiro; Fukushima, Akimune; Haino, Kazufumi; Tairaku, Shinya; Matsubara, Keiichi; Maeda, Kazuhisa; Kaji, Takashi; Ogawa, Masanobu; Osada, Hisao; Nishizawa, Haruki; Okamoto, Yoko; Kanagawa, Takeshi; Kakigano, Aiko; Kitagawa, Michihiro; Ogawa, Masaki; Izumi, Shunichiro; Katagiri, Yukiko; Takeshita, Naoki; Kasai, Yasuyo; Naruse, Katsuhiko; Neki, Reiko; Masuyama, Hisashi; Hyodo, Maki; Kawano, Yukie; Ohba, Takashi; Ichizuka, Kiyotake; Kido, Yasuhiro; Fukao, Toshiyuki; Miharu, Norio; Nagamatsu, Takeshi; Watanabe, Atsushi; Hamajima, Naoki; Hirose, Masaya; Sanui, Ayako; Shirato, Nahoko; Yotsumoto, Junko; Nishiyama, Miyuki; Hirose, Tatsuko; Sago, Haruhiko

    2017-08-01

    The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases. © 2017 Japan Society of Obstetrics and Gynecology.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    well-being respectively worries in pregnancy. METHODS: A population-based cross-sectional study with 6,427 pregnant women consecutively included before the time of a nuchal translucency scan. Participants were recruited from three Danish obstetric departments offering prenatal screening free of charge...... 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....

  8. Commercial Landscape of noninvasive prenatal testing in the United States

    Science.gov (United States)

    Agarwal, Ashwin; Sayres, Lauren C.; Cho, Mildred K.; Cook-Deegan, Robert; Chandrasekharan, Subhashini

    2014-01-01

    Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests. PMID:23686656

  9. [Introduction of rapid syphilis and HIV testing in prenatal care in Colombia: qualitative analysis].

    Science.gov (United States)

    Ochoa-Manjarrés, María Teresa; Gaitán-Duarte, Hernando Guillermo; Caicedo, Sidia; Gómez, Berta; Pérez, Freddy

    2016-12-01

    Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health. Colombia does not do widespread screening with rapid syphilis and HIV tests in prenatal care. The professionals interviewed stated they did not have prior experience in the use of rapid tests-except for laboratory staff-or in the course of action in response to a positive result. The insurance system hinders access to timely diagnosis and treatment. Health authorities perceive a need to review existing standards, strengthen the first level of care, and promote comprehensive prenatal care starting with contracts between insurers and health service institutional providers. Participants recommended staff training and integration between health-policymaking and academic entities for updating training programs. The market approach and the characteristics of the Colombian health system constitute the main barriers to implementation of rapid testing as a strategy for elimination of mother-to-child transmission of syphilis and HIV. Measures identified include making changes in contracts between insurers and health service institutional providers, adapting the timing and duration of prenatal care procedures, and training physicians and nurses involved in prenatal care.

  10. Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine.

    Science.gov (United States)

    Hui, Lisa; Bianchi, Diana W

    2017-01-14

    Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about maternofetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent post-test management recommendations for those with discordant test results. The reduction in invasive testing has had downstream effects on specialist training and caused many countries to re-examine their national approaches to prenatal screening. Finally, the accumulating datasets of genomic information on pregnant women and their fetuses raise ethical issues regarding consent for future data mining and intellectual property.

  11. Impact of psychosocial risk factors on prenatal care delivery: a national provider survey.

    Science.gov (United States)

    Krans, Elizabeth E; Moloci, Nicholas M; Housey, Michelle T; Davis, Matthew M

    2014-12-01

    To evaluate providers' perspectives regarding the delivery of prenatal care to women with psychosocial risk factors. A random, national sample of 2,095 prenatal care providers (853 obstetricians and gynecologists (Ob/Gyns), 270 family medicine (FM) physicians and 972 midwives) completed a mailed survey. We measured respondents' practice and referral patterns regarding six psychosocial risk factors: adolescence (age ≤19), unstable housing, lack of paternal involvement and social support, late prenatal care (>13 weeks gestation), domestic violence and drug or alcohol use. Chi square and logistic regression analyses assessed the association between prenatal care provider characteristics and prenatal care utilization patterns. Approximately 60 % of Ob/Gyns, 48.4 % of midwives and 32.2 % of FM physicians referred patients with psychosocial risk factors to clinicians outside of their practice. In all three specialties, providers were more likely to increase prenatal care visits with alternative clinicians (social workers, nurses, psychologists/psychiatrists) compared to themselves for all six psychosocial risk factors. Drug or alcohol use and intimate partner violence were the risk factors that most often prompted an increase in utilization. In multivariate analyses, Ob/Gyns who recently completed clinical training were significantly more likely to increase prenatal care utilization with either themselves (OR 2.15; 95 % CI 1.14-4.05) or an alternative clinician (2.27; 1.00-4.67) for women with high psychosocial risk pregnancies. Prenatal care providers frequently involve alternative clinicians such as social workers, nurses and psychologists or psychiatrists in the delivery of prenatal care to women with psychosocial risk factors.

  12. What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

    Science.gov (United States)

    Farrell, Ruth M.; Agatisa, Patricia K.; Nutter, Benjamin

    2014-01-01

    Background Noninvasive prenatal testing (NIPT) will change the delivery of prenatal care for all women, including those considered low-risk for fetal chromosomal abnormalities. This study investigated pregnant women's attitudes, informational needs, and decision-making preferences regarding current and future applications of NIPT. Methods A survey instrument was used to identify aspects of the decision-making process for NIPT among low-risk and high-risk populations. Results Both low-risk and high-risk women (n=334) expressed interest in incorporating NIPT as a screening test into their prenatal care. Information specific to NIPT's detection rate (86%), indications (77%), and performance in comparison with conventional screens and diagnostic tests (63%) were identified as lead factors when considering its use. The future availability of NIPT as a diagnostic test increased women's willingness to undergo testing for fetal aneuploidy, cancer susceptibility, childhood-onset and adult-onset diseases. Despite its noninvasive aspects, participants expressed the need for a formal informed consent process (71%) to take place prior to testing. Conclusions Our study demonstrates that NIPT will introduce new challenges for pregnant women and their healthcare providers who will be charged with supporting informed decision-making about its use. It is critical that obstetric professionals are prepared to facilitate a patient-centered decision-making process as its clinical application rapidly changes. PMID:24825739

  13. Diagnostic, carrier and prenatal genetic testing for fragile X ...

    African Journals Online (AJOL)

    the brain and testes. FMRP has been shown to down-regulate the translation of specific target messenger RNAs and plays a vital role in synaptic plasticity.[7]. Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review. F B Essop ...

  14. Routine prenatal HIV testing: women's concerns and their strategies for addressing concerns.

    Science.gov (United States)

    Rothpletz-Puglia, Pamela; Storm, Deborah; Burr, Carolyn; Samuels, Deanne

    2012-02-01

    The purpose of this exploratory study was to solicit women's opinions about the process of routine prenatal HIV testing to identify strategies for routine testing that will address women's concerns, increase their level of comfort with testing, and support universal prenatal HIV testing. A convenience sample of English-speaking women between 18 and 45 years of age who were HIV-negative or of unknown HIV status were recruited for focus groups at four diverse community sites in four states. Focus group discussion questions addressed health care provider approaches and actions that would make a woman feel more comfortable with the process of routine prenatal HIV testing. Twenty-five women agreed to participate; most women (64%) were of Black, non-Hispanic race/ethnicity; 44% were 25-34 years of age. Thematic analysis of women's concerns about routine prenatal HIV testing fell into the following categories: fear, protecting the baby, protecting the woman, confidentiality, and stigma. Women's strategies for addressing these concerns were related to themes of education and information, normalizing HIV testing, patient-provider relationships, systems, and private communication. Participants offered numerous insightful and practical suggestions for addressing their concerns thereby supporting universal routine prenatal HIV testing. The themes that arose in this study support the conclusion that women will be more comfortable with routine prenatal HIV testing if they are fully informed and knowledgeable about the rationale for HIV testing during pregnancy and their right to decline, and if testing is carried out in a confidential and supportive health care environment.

  15. Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.

    Science.gov (United States)

    Dharajiya, Nilesh; Zwiefelhofer, Tricia; Guan, Xiaojun; Angkachatchai, Vach; Saldivar, Juan-Sebastian

    2015-01-20

    Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect trisomy 21 in late 2011, the technology has rapidly advanced to analyze other autosomal and sex chromosome aneuploidies, and now includes the detection of subchromosomal deletion and duplication events. Here we provide a brief overview of how noninvasive prenatal testing using next-generation sequencing is performed. Copyright © 2015 John Wiley & Sons, Inc.

  16. Exploring Indian women's reproductive decision-making regarding prenatal testing

    NARCIS (Netherlands)

    Gupta, J.A.

    2010-01-01

    Pregnant women in large cities and small towns of India are increasingly undergoing prenatal testing (PNT) on the advice of medical practitioners to ensure foetal health and to prevent the birth of disabled children. In the last two decades, several studies have been conducted in India to determine

  17. [Non-invasive prenatal testing: challenges for future implementation].

    Science.gov (United States)

    Henneman, Lidewij; Page-Chrisiaens, G C M L Lieve; Oepkes, Dick

    2015-01-01

    The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making.

  18. Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing: A Pilot Study.

    Science.gov (United States)

    Jiang, Haojun; Xie, Yifan; Li, Xuchao; Ge, Huijuan; Deng, Yongqiang; Mu, Haofang; Feng, Xiaoli; Yin, Lu; Du, Zhou; Chen, Fang; He, Nongyue

    2016-01-01

    Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels in order to verify the performance in clinical cases. Combining targeted deep sequencing of selective SNP and informative bioinformatics pipeline, we calculated the combined paternity index (CPI) of 17 cases to determine paternity. Sequencing-based NIPAT results fully agreed with invasive prenatal paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future.

  19. [Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis].

    Science.gov (United States)

    Łaczmańska, Izabela; Stembalska, Agnieszka

    2014-04-01

    NIFTY (Non-invasive Fetal Trisomy Test) is a non-invasive prenatal test which is used for diagnosing fetal trisomy. The test is based on the analysis of cell free fetal DNA (cffDNA) present in the plasma and serum of a pregnant woman. NIFTY allows to detect fetal trisomy of chromosomes 13, 18, 21, X and Y and also X monosomy. Abnormal NIFTY results still need to be verified using other diagnostic techniques. However the sensitivity of NIFTY for trisomy 21, 18 and 13 is estimated at 99%, 97% and 79% respectively with false positive rate for all examined trisomies and X monosomy of test for common trisomies (apart from ultrasound and biochemical tests) in the case of patient anxiety and in situation when the patient does not consent to invasive prenatal diagnostic tests. The sensitivity and specificity of NIFTY will most likely be improved as laboratory methods develop, and after a sufficiently large group of pregnant patients has been tested. Therefore, this test may soon become the primary diagnostic tool for common trisomies, allowing to avoid invasive prenatal testing in this indication. With high probability cffDNA obtained from the serum of pregnant women will also be used with time in the diagnosis of fetal structural chromosomal aberrations and other genetic changes. The aim of our study is to present a new diagnostic method.

  20. Barriers and facilitators for men to attend prenatal care and obtain HIV voluntary counseling and testing in Brazil

    National Research Council Canada - National Science Library

    Nava Yeganeh; Mariana Simon; Deborah Mindry; Karin Nielsen-Saines; Maria Cristina Chaves; Breno Santos; Marineide Melo; Brenna Mendoza; Pamina Gorbach

    2017-01-01

    Background Providing HIV voluntary counseling and testing (VCT) to men who attend their partner's prenatal care is an intervention with potential to reduce HIV transmission to women and infants during the vulnerable period of pregnancy...

  1. Patient Perception of Negative Noninvasive Prenatal Testing Results

    Science.gov (United States)

    Wittman, A. Theresa; Hashmi, S. Shahrukh; Mendez-Figueroa, Hector; Nassef, Salma; Stevens, Blair; Singletary, Claire N.

    2016-01-01

    Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed. Methods and Materials We conducted a prospective cohort study to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT result. Ninety-four participants who had prenatal genetic counseling and a subsequent negative NIPT were surveyed. Results There was a significant decline in general level of worry after a negative NIPT result (p = NIPT. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 (p = 0.012) and sex chromosome abnormality (p = 0.039), and were more likely to understand which conditions NIPT tests for (p = 0.021), compared to those women with less formal education. Conclusion These data demonstrate that despite the relatively recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after receiving genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding. PMID:27900229

  2. Prenatal Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Blood Test (Mayo Foundation for Medical Education and Research) Second Trimester Maternal Serum Screening (American Association for Clinical Chemistry) Special Tests for Monitoring Fetal Health (American College ...

  3. Women's and care providers' perspectives of quality prenatal care: a qualitative descriptive study

    Directory of Open Access Journals (Sweden)

    Sword Wendy

    2012-04-01

    Full Text Available Abstract Background Much attention has been given to the adequacy of prenatal care use in promoting healthy outcomes for women and their infants. Adequacy of use takes into account the timing of initiation of prenatal care and the number of visits. However, there is emerging evidence that the quality of prenatal care may be more important than adequacy of use. The purpose of our study was to explore women's and care providers' perspectives of quality prenatal care to inform the development of items for a new instrument, the Quality of Prenatal Care Questionnaire. We report on the derivation of themes resulting from this first step of questionnaire development. Methods A qualitative descriptive approach was used. Semi-structured interviews were conducted with 40 pregnant women and 40 prenatal care providers recruited from five urban centres across Canada. Data were analyzed using inductive open and then pattern coding. The final step of analysis used a deductive approach to assign the emergent themes to broader categories reflective of the study's conceptual framework. Results The three main categories informed by Donabedian's model of quality health care were structure of care, clinical care processes, and interpersonal care processes. Structure of care themes included access, physical setting, and staff and care provider characteristics. Themes under clinical care processes were health promotion and illness prevention, screening and assessment, information sharing, continuity of care, non-medicalization of pregnancy, and women-centredness. Interpersonal care processes themes were respectful attitude, emotional support, approachable interaction style, and taking time. A recurrent theme woven throughout the data reflected the importance of a meaningful relationship between a woman and her prenatal care provider that was characterized by trust. Conclusions While certain aspects of structure of care were identified as being key dimensions of

  4. 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. © 2016 Elsevier Inc. All rights reserved.

  5. Cost-effectiveness analysis of carrier and prenatal genetic testing for X-linked hemophilia

    Directory of Open Access Journals (Sweden)

    Meng-Che Tsai

    2015-08-01

    Conclusion: Carrier and prenatal genetic testing for hemophilia is a cost-effective investment in healthcare allocation. A case management system should be integrated in the current practice to facilitate patient care (e.g., collecting family pedigrees and providing genetic counseling.

  6. Non-invasive prenatal testing: ethics and policy considerations.

    Science.gov (United States)

    Vanstone, Meredith; King, Carol; de Vrijer, Barbra; Nisker, Jeff

    2014-06-01

    New technologies analyzing fetal DNA in maternal blood have led to the wide commercial availability of non-invasive prenatal testing (NIPT). We present here for clinicians the ethical and policy issues related to an emerging practice option. Although NIPT presents opportunities for pregnant women, particularly women who are at increased risk of having a baby with an abnormality or who are otherwise likely to access invasive prenatal testing, NIPT brings significant ethics and policy challenges. The ethical issues include multiple aspects of informed decision-making, such as access to counselling about the possible results of the test in advance of making a decision about participation in NIPT. Policy considerations include issues related to offering and promoting a privately available medical strategy in publicly funded institutions. Ethics and policy considerations merge in NIPT with regard to sex selection and support for persons living with disabilities.

  7. Knowledge and perceptions on toxoplasmosis among pregnant women and nurses who provide prenatal in primary care.

    Science.gov (United States)

    Sousa, Jayra Adrianna da Silva; Corrêa, Rita da Graça Carvalhal Frazão; Aquino, Dorlene Maria Cardoso de; Coutinho, Nair Portela Silva; Silva, Marcos Antonio Custódio Neto da; Nascimento, Maria do Desterro Soares Brandão

    2017-06-01

    Toxoplasmosis is an infection that affects almost a third of the world population. In adults, it is often asymptomatic, although having important manifestation in children- infected by placental transmission. The prenatal is an important moment, requiring actions in women's care during pregnancy, in order to prevent diseases that could compromise the mother and the child's life. This is a descriptive study of qualitative approach aimed to understand the perception of nurses and pregnant women about toxoplasmosis during primary - prenatal care. The study was conducted in five selected primary health care units, in the municipality of São Luis - MA. The sample consisted of 15 nurses working in nursing consultation and 15 pregnant women attended in prenatal care. For data collection, a semi-structured questionnaire and an interview guide covering issues related to knowledge and conduct on toxoplasmosis were used. For analysis, the content analysis technique was used. The answers were transcribed, organized and grouped thematically, where the following categories emerged: knowledge about examination requests; knowledge about toxoplasmosis; guidance during prenatal consultation; knowledge of nurses about the avidity test; procedures and guidelines on reagent cases. Pregnant women showed unawareness about toxoplasmosis and its effects. Nurses, although having basic knowledge about the subject, showed little applicability regarding pregnant women's guidance. The nurse plays an important role in educational activities regarding pregnant women, contributing to the quality of prenatal care. Pregnant women were shown to have some knowledge about toxoplasmosis, although they said they did not have assurance about prevention.

  8. Siblings of Disabled Peoples' Attitudes Toward Prenatal Genetic Testing and Disability: A Mixed Methods Approach

    Directory of Open Access Journals (Sweden)

    Carli Friedman

    2016-08-01

    Full Text Available We used the phenomenon of prenatal genetic testing to learn more about how siblings of disabled people understand prenatal genetic testing and social meanings of disability. By interweaving data on siblings' conscious and unconscious disability attitudes and prenatal testing with siblings' explanations of their views of prenatal testing we explored siblings' unique relationships with disability, a particular set of perspectives on prenatal genetic testing, and examined how siblings' decision-making processes reveal their attitudes about disability more generally. In doing so we found siblings have both personal and broad stakes regarding their experiences with disability that impact their views.

  9. 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

    2014-01-01

    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 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. PMID:24642832

  10. Prenatal Testing: Is It Right for You?

    Science.gov (United States)

    ... Ethics. ACOG Committee Opinion No. 363: Patient testing — Ethical issues in selection and counseling. Obstetrics and Gynecology. 2007; ... and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. © ...

  11. 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.

  12. Toward healthy offspring: Some origins of prenatal testing in Spain

    Directory of Open Access Journals (Sweden)

    Santesmases, María Jesús

    2008-06-01

    Full Text Available This paper deals with prenatal diagnosis practices in Spain. For pursuing this aim it reviews both literature on the origins of these practices in foreign countries as well as some of the early publications by Spanish practitioners. Those publications appeared to be connected to previous genetic testing in children such as the case of Down syndrome. Socio-political norms and values of Franco’s regime together with clinicians’ interests on introducing new testing techniques resulted in the stabilization of these practices associated to a reconceptualisation of pregnancy. Although prenatal diagnosis techniques made the body of pregnant women invisible, women’s bodies remained at the core of the technicalisation of contemporary reproductive options.

    Este trabajo reflexiona sobre las prácticas de diagnóstico prenatal en España. Con este fin se manejan tanto bibliografía sobre los orígenes de estas prácticas en otros países como datos encontrados en las primeras publicaciones al respecto de especialistas de nuestro país. Estas publicaciones se relacionan también con algunas previas sobre diagnóstico genético en la clínica en el caso del síndrome de Down. Se sugiere que las normas sociopolíticas propias de la dictadura de Franco se combinaron con la difusión de técnicas desarrolladas en el extranjero para estabilizar prácticas médicas asociadas a una reconceptualización del embarazo. Las técnicas de diagnóstico prenatal, pese a invisibilizar el cuerpo de las mujeres, mantienen a este en el centro de la tecnificación de las opciones reproductivas contemporáneas.

  13. Non-invasive prenatal testing for aneuploidy: current status and future prospects.

    Science.gov (United States)

    Benn, P; Cuckle, H; Pergament, E

    2013-07-01

    Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, the range of cytogenetic abnormalities detectable, cost, counseling and ethical issues. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high-risk women. Universal NIPT is not cost-effective, but using NIPT contingently in women found at moderate or high risk by conventional screening is cost-effective. Positive NIPT results must be confirmed using invasive techniques. Established screening, fetal ultrasound and invasive procedures with microarray testing allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, uniparental disomy and consanguinity, and separate evaluation of dizygotic twins. Fetal fraction enrichment, improved sequencing and selected analysis of the most informative sequences should result in tests for additional chromosomal abnormalities. Providing adequate prenatal counseling poses a substantial challenge given the broad range of prenatal testing options now available. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.

  14. Providing prenatal care to pregnant women with overweight or obesity: Differences in provider communication and ratings of the patient-provider relationship by patient body weight.

    Science.gov (United States)

    Washington Cole, Katie O; Gudzune, Kimberly A; Bleich, Sara N; Cheskin, Lawrence J; Bennett, Wendy L; Cooper, Lisa A; Roter, Debra L

    2017-06-01

    To examine the association of women's body weight with provider communication during prenatal care. We coded audio recordings of prenatal visits between 22 providers and 117 of their patients using the Roter Interaction Analysis System. Multivariate, multilevel Poisson models were used to examine the relationship between patient pre-pregnancy body mass index and provider communication. Compared to women with normal weight, providers asked fewer lifestyle questions (IRR 0.66, 95% CI 0.44-0.99, p=0.04) and gave less lifestyle information (IRR 0.51, 95% CI 0.32-0.82, p=0.01) to women with overweight and obesity, respectively. Providers used fewer approval (IRR 0.68, 95% CI 0.51-0.91, p=0.01) and concern statements (IRR 0.68, 95% CI 0.53-0.86, p=0.002) when caring for women with overweight and fewer self-disclosure statements caring for women with obesity (IRR 0.40, 95% CI 0.19-0.84 p=0.02). Less lifestyle and rapport building communication for women with obesity may weaken patient-provider relationship during routine prenatal care. Interventions to increase use of patient-centered communication - especially for women with overweight and obesity - may improve prenatal care quality. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. Prenatal marijuana exposure and intelligence test performance at age 6.

    Science.gov (United States)

    Goldschmidt, Lidush; Richardson, Gale A; Willford, Jennifer; Day, Nancy L

    2008-03-01

    This is a prospective study of the effects of prenatal marijuana exposure on the intelligence test performance of 648 children at a 6-year follow-up. Women were interviewed about the amount and frequency of their marijuana use at 4 and 7 months of pregnancy and at delivery. Participants were light to moderate users of marijuana and represented a lower income population. Children were assessed with the Stanford-Binet Intelligence Scale by examiners blind to exposure status. Multiple regression was applied to examine the effects of prenatal marijuana exposure on children's intelligence after partialing out the effects of other significant predictors. There was a significant nonlinear relationship between marijuana exposure and child intelligence. Heavy marijuana use (one or more cigarettes per day) during the first trimester was associated with lower verbal reasoning scores on the Stanford-Binet Intelligence Scale. Heavy use during the second trimester predicted deficits in the composite, short-term memory, and quantitative scores. Third-trimester heavy use was negatively associated with the quantitative score. Other significant predictors of intelligence included maternal IQ, home environment, and social support. These findings indicate that prenatal marijuana exposure has a significant effect on school-age intellectual development.

  16. Knowledge and perceptions on toxoplasmosis among pregnant women and nurses who provide prenatal in primary care

    Directory of Open Access Journals (Sweden)

    Jayra Adrianna da Silva Sousa

    Full Text Available ABSTRACT Background Toxoplasmosis is an infection that affects almost a third of the world population. In adults, it is often asymptomatic, although having important manifestation in children- infected by placental transmission. The prenatal is an important moment, requiring actions in women’s care during pregnancy, in order to prevent diseases that could compromise the mother and the child’s life. Methods This is a descriptive study of qualitative approach aimed to understand the perception of nurses and pregnant women about toxoplasmosis during primary – prenatal care. The study was conducted in five selected primary health care units, in the municipality of São Luis - MA. The sample consisted of 15 nurses working in nursing consultation and 15 pregnant women attended in prenatal care. For data collection, a semi-structured questionnaire and an interview guide covering issues related to knowledge and conduct on toxoplasmosis were used. For analysis, the content analysis technique was used. Results The answers were transcribed, organized and grouped thematically, where the following categories emerged: knowledge about examination requests; knowledge about toxoplasmosis; guidance during prenatal consultation; knowledge of nurses about the avidity test; procedures and guidelines on reagent cases. Pregnant women showed unawareness about toxoplasmosis and its effects. Nurses, although having basic knowledge about the subject, showed little applicability regarding pregnant women’s guidance. Conclusion The nurse plays an important role in educational activities regarding pregnant women, contributing to the quality of prenatal care. Pregnant women were shown to have some knowledge about toxoplasmosis, although they said they did not have assurance about prevention.

  17. Uptake of prenatal HIV testing in Hai Phong Province, Vietnam

    DEFF Research Database (Denmark)

    Nguyen, Lan; Christoffersen, Sarah Vigh; Rasch, Vibeke

    2010-01-01

    The objective of the study is to describe the uptake of prenatal HIV testing among Vietnamese women. Exit interviews were conducted among 300 women who had delivered at Hai Phong obstetrical hospital. Information about socioeconomic characteristics and HIV testing was obtained through structured...... questionnaire interviews. It was found that 45% of the women were tested for HIV before the end of 34 weeks of gestation, 5% in 35 to 40 weeks of gestation, and 55% at labor. Low educational levels, being a farmer or worker, having a low income, and living close to the hospital were associated with being tested...... at labor. When adjusting for possible confounders, however, living more than 15 km from the hospital was the only factor, which remained significantly associated with HIV testing during labor (odds ratio = 2.15; confidence interval = 1.14-4.04). The results suggest that many Vietnamese women are not tested...

  18. The impact of digital DNA counting technologies on noninvasive prenatal testing.

    Science.gov (United States)

    Sun, Kun; Jiang, Peiyong; Chan, K C Allen

    2015-01-01

    The discovery of cell-free DNA molecules in maternal plasma has opened up numerous opportunities for noninvasive prenatal testing. The advent of new digital counting technologies, including digital polymerase chain reaction and massive parallel sequencing, has provided the opportunity to quantify the cell-free DNA molecules in maternal plasma in an unprecedentedly precise manner. Powered by these technologies, prenatal testing of different kinds of hereditary conditions, ranging from monogenic diseases to chromosome aneuploidies, has been shown to be possible through the analysis of maternal plasma DNA. Discussed here are the principles of the approaches used in the noninvasive testing of different fetal conditions, with an emphasis on the impact that different digital DNA counting strategies have made on the development of these tests.

  19. For your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'.

    Science.gov (United States)

    Deans, Zuzana; Clarke, Angus J; Newson, Ainsley J

    2015-01-01

    Non-invasive prenatal testing (NIPT) is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus without the risk of pregnancy loss as a direct result of the test procedure. As with other prenatal tests, information from NIPT can help to make a decision about termination of pregnancy, plan contingencies for birth or prepare parents to raise a child with a genetic condition. NIPT can also be used by women and couples to test purely 'for information'. Here, no particular action is envisaged following the test; it is motivated entirely by an interest in the result. The fact that NIPT can be performed without posing a risk to the pregnancy could give rise to an increase in such requests. In this paper, we examine the ethical aspects of using NIPT 'purely for information', including the competing interests of the prospective parents and the future child, and the acceptability of testing for 'frivolous' reasons. Drawing on several clinical scenarios, we claim that arguments about testing children for genetic conditions are relevant to this debate. In addition, we raise ethical concerns over the potential for objectification of the child. We conclude that, in most cases, using NIPT to test for adult-onset conditions, carrier status or non-serious traits presenting in childhood would be unacceptable. © 2014 John Wiley & Sons Ltd.

  20. Aneuploidy screening by non?invasive prenatal testing in twin pregnancy

    OpenAIRE

    Fosler, L.; Winters, P.; Jones, K. W.; Curnow, K. J.; Sehnert, A. J.; Bhatt, S.; Platt, L. D.

    2017-01-01

    Abstract Objectives To describe our experience with non?invasive prenatal testing (NIPT) in twin pregnancy. Methods Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT was used to screen for the presence of fetal aneuploidy on chromosomes 13, 18, 21, X and Y i...

  1. Noninvasive prenatal testing in China: Future detection of rare genetic diseases?

    OpenAIRE

    Mei, Lin; Tang, Qi; Sun, Baiyu; Xu, Lingzhong

    2014-01-01

    Noninvasive prenatal testing (NIPT) provides an innovative method to detect genetic conditions in fetuses using a maternal blood sample, thus avoiding the risk of miscarriage associated with traditional invasive procedures. Since 80% of rare diseases are genetic diseases, NIPT has the potential to detect rare genetic diseases early on and it has been used in many countries and regions. Since China has the world's largest population of patients with rare diseases, NIPT has been implemented in ...

  2. Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.

    Science.gov (United States)

    Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean-Claude; Rauch, Anita

    2016-05-01

    Non-invasive prenatal testing (NIPT) is increasingly being used in prenatal aneuploidy screening. The objective of this study was to assess the positive predictive value in our cohort of 68 cases with positive NIPT result. In addition, we wondered if the use of NIPT in cases with ultrasound abnormalities is appropriate, given the limited number of chromosomes investigated. We performed confirmative invasive testing using karyotyping, fluorescence in situ hybridization (FISH) and/or high-resolution chromosomal microarray analysis. In line with the published data, the positive NIPT result was confirmed in 64.7% of cases. Inconclusive and negative NIPT results followed by cytogenetically pathologic findings were encountered in three and in five cases, respectively. Four of the five fetuses with negative NIPT but pathologic cytogenetic findings were born with several malformations and diagnosed right after birth with severe genetic conditions. Of note, in all of those four cases, NIPT was offered despite the finding of major fetal ultrasound abnormalities and despite the fact that the family would not have opposed invasive testing or pregnancy termination. More education of health care providers and caution in counseling and interpretation of test results are needed in order to meet the challenges that this new test, which enriches our diagnostic options in prenatal testing, poses. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  3. Recent advances in prenatal genetic screening and testing [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Ignatia B. Van den Veyver

    2016-10-01

    Full Text Available The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

  4. The quest for the perfect baby: why do Israeli women seek prenatal genetic testing?

    Science.gov (United States)

    Remennick, Larissa

    2006-01-01

    Since the mid-1990s, the Israeli medical scene has witnessed a real boom in elective prenatal testing for inherited diseases that has spread beyond risk groups to the general Jewish population, especially of Ashkenazi (European) origin. This study tried to identify key social influences involved in the growing range and prevalence of prenatal genetic tests as they emerged from women's own perspective. Twenty-seven women having blood tests for genetic mutations were interviewed at two types of genetic clinics, and re-interviewed after getting test results. The names of 23 women who chose not to have elective tests were obtained from testers, and these non-testers were interviewed for comparison. Women's accounts suggest that elective genetic testing is more acceptable, if not normative, among educated middle class Ashkenazi women, and is more often questioned and refused by lower class Mizrahi women, as well as religious women of any ethnic origin. The key forces that drive women's choice of prenatal genetic diagnosis include the fear of having a sick and/or socially unfit child in an unsupportive environment; strong endorsement of testing by gynaecologists; popular and professional discourse on the common Ashkenazi mutations causing genetic anxiety in this ethnic group (i.e. apprehension of multiple known and unknown dangers hidden in its genetic makeup); and the emerging social pressure for comprehensive prenatal screening as an indispensable part of good motherhood. Many women described the experience of testing as frustrating because of the long wait for results and difficulty of their interpretation and subsequent decision-making. Women who rejected elective tests explained their decision by moral/religious objections to abortion and/or eugenic aspects of prenatal screening, as well as by prohibitive costs and poor understanding of the tests' meaning and implications. Yet, few informants voiced objections to the excessive medicalisation of pregnancy as such

  5. Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

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

    2017-01-01

    OBJECTIVE: To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS: This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal

  6. The clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, Lean; Faas, Brigitte H W; Feenstra, Ilse; van Vugt, John M G; Bekker, Mireille N

    OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high

  7. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

    Science.gov (United States)

    Bianchi, Diana W; Chudova, Darya; Sehnert, Amy J; Bhatt, Sucheta; Murray, Kathryn; Prosen, Tracy L; Garber, Judy E; Wilkins-Haug, Louise; Vora, Neeta L; Warsof, Stephen; Goldberg, James; Ziainia, Tina; Halks-Miller, Meredith

    2015-07-14

    Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Case series identified from 125,426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. NIPT for fetal aneuploidy screening (chromosomes 13, 18, 21, X, and Y). Detailed genome-wide bioinformatics analysis was performed on available sequencing data from 8 of 10 women with known cancers. Genome-wide copy-number changes in the original NIPT samples and in subsequent serial samples from individual patients when available are reported. Copy-number changes detected in NIPT sequencing data in the known cancer cases were compared with the types of aneuploidies detected in the overall cohort. From a cohort of 125,426 NIPT results, 3757 (3%) were positive for 1 or more aneuploidies involving chromosomes 13, 18, 21, X, or Y. From this set of 3757 samples, 10 cases of maternal cancer were identified. Detailed clinical and sequencing data were obtained in 8. Maternal cancers most frequently occurred with the rare NIPT finding of more than 1 aneuploidy detected (7 known cancers among 39 cases of multiple aneuploidies by NIPT, 18% [95% CI, 7.5%-33.5%]). All 8 cases that underwent further bioinformatics analysis showed unique patterns of nonspecific copy-number gains and losses across multiple chromosomes. In 1 case, blood was

  8. Cell-baswd non-invasive prenatal testing

    DEFF Research Database (Denmark)

    Uldbjerg, Niels; Singh, Ripudaman; Christensen, Rikke

    CONTROL ID: 2520273 ABSTRACT FINAL ID: OC06.03 TITLE: Cell based Non-invasive Prenatal Testing (NIPT) AUTHORS (FIRST NAME, LAST NAME): Niels Uldbjerg2, Ripudaman Singh4, Rikke Christensen3, Palle Schelde4, Ida Vogel1, Else Marie Vestergaard3, Lotte Hatt4, Steen Kølvrå4 INSTITUTIONS (ALL): 1......, based on circulating cell free fetal DNA in maternal plasma (cffNIPT) has a good screening-performance concerning Down syndrome. Recently, however, a number of publications have indicated that cffNIPT has only limited clinical utility for subchromosomal abnormalities. Therefore, it is of interest...... whether fetal cells – which are known to circulate in maternal blood in extremely low numbers – can be isolated in pure form. If so, it will be possible using whole genome amplification to obtain pure fetal DNA in sufficient amounts to do microarray analysis or NGS without contaminating maternal DNA. We...

  9. Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor.

    Science.gov (United States)

    Evans, Mark I; Wapner, Ronald J; Berkowitz, Richard L

    2016-09-01

    The past few years have seen extraordinary advances in prenatal genetic practice led by 2 major technological advances; next-generation sequencing of cell-free DNA in the maternal plasma to noninvasively identify fetal chromosome abnormalities, and microarray analysis of chorionic villus sampling and amniotic fluid samples, resulting in increased cytogenetic resolution. Noninvasive prenatal screening of cell-free DNA has demonstrated sensitivity and specificity for trisomy 21 superior to all previous screening approaches with slightly lower performance for other common aneuploidies. These tests have rapidly captured an increasing market share, with substantial reductions in the number of chorionic villus sampling and amniocentesis performed suggesting that physicians and patients regard such screening approaches as an equivalent replacement for diagnostic testing. Simultaneously, many clinical programs have noted significant decreases in patient counseling. In 2012 the Eunice Kennedy Shriver National Institute of Child Health and Human Development funded a blinded comparison of karyotype with the emerging technology of array comparative genomic hybridization showing that in patients with a normal karyotype, 2.5% had a clinically relevant microdeletion or duplication identified. In pregnancies with an ultrasound-detected structural anomaly, 6% had an incremental finding, and of those with a normal scan, 1.6% had a copy number variant. For patients of any age with a normal ultrasound and karyotype, the chance of a pathogenic copy number variant is greater than 1%, similar to the age-related risk of aneuploidy in the fetus of a 38 year old. This risk is 4-fold higher than the risk of trisomy 21 in a woman younger than 30 years and 5- to 10-fold higher than the present accepted risk of a diagnostic procedure. Based on this, we contend that every patient, regardless of her age, be educated about these risks and offered the opportunity to have a diagnostic procedure with

  10. Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch; Krog, Grethe Risum; Rieneck, Klaus

    2005-01-01

    The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis.......The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis....

  11. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    OpenAIRE

    Farrell, Ruth M.; Mary Beth Mercer; Patricia K. Agatisa; Smith, Marissa B.; Elliot Philipson

    2014-01-01

    Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NI...

  12. Prenatal Testing for Intellectual Disability: Misperceptions and Reality with Lessons from down Syndrome

    Science.gov (United States)

    Acharya, Kruti

    2011-01-01

    Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be…

  13. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia

    2016-01-01

    % of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex...

  14. Current problems regarding abortion, prenatal genetic testing and managing pregnancy

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna

    2011-01-01

    Full Text Available Current ethical and legal issues with regard to abortion, prenatal genetic testing and managing pregnancy are discussed in this paper. These problems are considered from the legal theory point of view as well as from the standpoint of the Serbian Law, the European Convention for the Protection of Human Rights and Fundamental Freedoms, European Court of Human Rights, legal regulations of several EU countries, the USA, Japan, and their judicial practice. First, the pregnancy termination standards that exist in Serbia are introduced. Then the following issues are explained separately: the pro life and pro choice approaches to abortion; abortion according to the legal approach as a way of survival; the moral and legal status of the fetus; prenatal genetic testing, and finally matters regarding managing pregnancy today. Moral and legal principals of autonomy, namely freedom of choice of the individual, privacy and self-determination give women the right to terminate unwanted pregnancies. In addition, the basic question is whether the right of the woman to abortion clashes with the rights of others. Firstly, with the right of the "fetus to life". Secondly, with the right of the state to intervene in the interest of protecting "the life of the fetus". Third, with the rights of the woman’s partner. The fetus has the moral right to life, but less in relation to the same right of the woman as well as in relation to her right to control her life and her physical and moral integrity. On the other hand, the value of the life of the fetus increases morally and legally with the maturity of gestation; from the third trimester, the interest of the state prevails in the protection of the "life of the fetus" except when the life or health of the pregnant woman are at risk. As regards the rights of the woman’s partner, namely the husband’s opinion, there is no legal significance. The law does not request his participation in the decision on abortion because

  15. Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing

    Science.gov (United States)

    Kellogg, Gregory; Slattery, Leah; Hudgins, Louanne; Ormond, Kelly

    2014-01-01

    Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on their families and other families with children who have Down syndrome. Seventy-three self-reported mothers of children with Down syndrome responded to an anonymous online survey emailed to, and posted on, message boards of various Down syndrome support groups and networks. Data analysis included chi-square tests and thematic analysis. Fifty-nine percent of respondents indicated they would use NIPT in the future; respondents who had not used prenatal testing in the past were significantly less likely to report interest in using NIPT in the future than those who had prenatal testing previously (pNIPT could lead to increased terminations (88%), increased social stigma (57%), and decreased availability of services for individuals with Down syndrome (64%). However, only 16% believed availability of new noninvasive tests would be the most important factor in determining the number of pregnancies with Down syndrome terminated in the future. Additionally, 48% believed health care providers give biased or incorrect information about Down syndrome at the time of diagnosis, and 24% felt this incorrect information leads to terminations of pregnancies affected with Down syndrome. Results suggest although mothers of children with Down syndrome believe new noninvasive testing will lead to an increase in termination of pregnancies with Down syndrome, they do not think it is the MOST important factor. They also highlight the need to provide a diagnosis of Down syndrome in a balanced and objective manner. PMID:24481673

  16. Preconception and prenatal care--useful tools for providers of women's health.

    Science.gov (United States)

    Landeen, Laurie B; Bogue, Rebecka; Schuneman, Margaret

    2015-01-01

    Health care providers have a unique opportunity to change the behaviors of their patients. Preconception and prenatal care allow for interventions to abate risky behaviors that can affect not only the woman but also her developing fetus. If we can assist the reproductive age woman in modifying her high-risk activities, there will be improved birth outcomes and healthier mothers to care for their offspring. Alcohol and tobacco use, sexually transmitted infections and obesity are the top four modifiable risk factors. This article will address the impact that these behaviors have on women and tools to assist the health care provider in changing these bad habits and promoting healthy pregnancies. The theory of "fetal origins of disease" is emerging as one of the most powerful and compelling reasons to engage our patients before and during their pregnancy. Preventive medicine needs to start in the womb if we want to have the highest impact on healthy adulthood.

  17. Discordant non-invasive prenatal testing (NIPT) - a systematic review.

    Science.gov (United States)

    Hartwig, Tanja Schlaikjaer; Ambye, Louise; Sørensen, Steen; Jørgensen, Finn Stener

    2017-06-01

    With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  18. Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan

    National Research Council Canada - National Science Library

    Leiva Portocarrero, Maria Esther; Garvelink, Mirjam M; Becerra Perez, Maria Margarita; Giguère, Anik; Robitaille, Hubert; Wilson, Brenda J; Rousseau, François; Légaré, France

    2015-01-01

    ...) can help healthcare providers support women in this decision. Using an environmental scan, we aimed to identify publicly available DAs focusing on prenatal screening/diagnosis for Down syndrome that provide effective support for decision making...

  19. Clinical utility of non?invasive prenatal testing in pregnancies with ultrasound anomalies

    OpenAIRE

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

    2017-01-01

    ABSTRACT Objective To evaluate the application of non?invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. Methods This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a first?tier genetic test. NIPT was performed by massively parallel sequencing of cell?free DN...

  20. Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing.

    Science.gov (United States)

    Dharajiya, Nilesh G; Grosu, Daniel S; Farkas, Daniel H; McCullough, Ron M; Almasri, Eyad; Sun, Youting; Kim, Sung K; Jensen, Taylor J; Saldivar, Juan-Sebastian; Topol, Eric J; van den Boom, Dirk; Ehrich, Mathias

    2018-02-01

    Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal cfDNA contributions are comingled, changes in the maternal genome can manifest as abnormal NIPT results. Circulating tumor DNA (ctDNA) present in cases of maternal neoplasia has the potential to distort the NIPT readout to a degree that prevents interpretation, resulting in a nonreportable test result for fetal aneuploidy. NIPT cases that showed a distortion from normal euploid genomic representation were communicated to the caregiving physician as nonreportable for fetal aneuploidy. Follow-up information was subsequently collected for these cases. More than 450000 pregnant patients who submitted samples for clinical laboratory testing >3 years are summarized. Additionally, in-depth analysis was performed for >79000 research-consented samples. In total, 55 nonreportable NIPT cases with altered genomic profiles were cataloged. Of these, 43 had additional information available to enable follow-up. A maternal neoplasm was confirmed in 40 of these cases: 18 malignant, 20 benign uterine fibroids, and 2 with radiological confirmation but without pathological classification. In a population of pregnant women who submitted a blood sample for cfDNA testing, an abnormal genomic profile not consistent with fetal abnormalities was detected in about 10 out of 100000 cases. A subset of these observations (18 of 43; 41.9%) was attributed to maternal malignant neoplasms. These observational results suggest the need for a controlled trial to evaluate the potential of using cfDNA as an early biomarker of cancer. © 2017 American Association for Clinical Chemistry.

  1. (Ad)ministering love: providing family foster care to infants with prenatal substance exposure.

    Science.gov (United States)

    Marcellus, Lenora

    2008-09-01

    A significant percentage of children in foster care in North America are younger than 1 year of age and are in foster care because of parental substance use and other social challenges. Infants might present with specific health and behavioral issues that are challenging to manage within the foster family home environment; foster families require specialized skills and knowledge to manage these issues. In this article, the author describes a constructivist grounded theory of the process of becoming and providing family foster caregiving in the context of caring for infants with prenatal alcohol and/or drug exposure. The basic social process of (ad)ministering love was identified. The author further describes the three phases of this process and the core concepts within each phase.

  2. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other?

    Science.gov (United States)

    Ballantyne, Angela; Newson, Ainsley; Luna, Florencia; Ashcroft, Richard

    2009-08-01

    This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

  3. Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

    Science.gov (United States)

    Domingues, Rosa Maria Soares Madeira; Szwarcwald, Celia Landmann; Souza, Paulo Roberto Borges; Leal, Maria do Carmo

    2014-01-01

    OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between 2011 and 2012. Data were obtained using interviews with postpartum women, hospital records, and prenatal care cards. All postpartum women with a reactive serological test result recorded in the prenatal care card or syphilis diagnosis during hospitalization for childbirth were considered cases of syphilis in pregnancy. The Chi-square test was used for determining the disease prevalence and testing coverage rate by region of residence, self-reported skin color, maternal age, and type of prenatal and child delivery care units. RESULTS Prenatal care covered 98.7% postpartum women. Syphilis testing coverage rate was 89.1% (one test) and 41.2% (two tests), and syphilis prevalence in pregnancy was 1.02% (95%CI 0.84;1.25). A lower prenatal coverage rate was observed among women in the North region, indigenous women, those with less education, and those who received prenatal care in public health care units. A lower testing coverage rate was observed among residents in the North, Northeast, and Midwest regions, among younger and non-white skin-color women, among those with lower education, and those who received prenatal care in public health care units. An increased prevalence of syphilis was observed among women with social inequalities in access to health care units, coupled with other gaps in health assistance, have led to the persistence of congenital syphilis as a major public health problem in Brazil. PMID:25372167

  4. Uptake of non-invasive prenatal testing in Chinese women: money matters.

    Science.gov (United States)

    Han, J; Zhen, L; Pan, M; Yang, X; Ou, Y-M; Liao, C; Li, D-Z

    2015-12-01

    To determine the influence of free invasive prenatal testing on the uptake of non-invasive prenatal testing (NIPT). Over a 2-year period at a Chinese tertiary prenatal diagnostic unit, women at risk of fetal trisomy were given the option of NIPT or invasive prenatal testing. Invasive prenatal testing was offered free of charge to women with a local Hukou (household registration); however, women without a local Hukou were charged for invasive prenatal testing. Both women with and without a local Hukou were charged for NIPT. During the first year, 2647 women with a positive trisomy 21 screening test were referred (474 women with a local Hukou and 2173 women without a local Hukou). Only 1.6% of the women with a local Hukou underwent NIPT, while this proportion was 20.6% in the women without a local Hukou. During the second year, the price of NIPT was reduced. The total number of women referred was 3047 (502 women with a local Hukou and 2545 women without a local Hukou). The uptake of NIPT in women without a local Hukou doubled, but the uptake of NIPT remained stable in women with a local Hukou. The financial impact on the uptake of NIPT should not be underestimated. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

    Science.gov (United States)

    Deans, Zandra C; Allen, Stephanie; Jenkins, Lucy; Khawaja, Farrah; Hastings, Ros J; Mann, Kathy; Patton, Simon J; Sistermans, Erik A; Chitty, Lyn S

    2017-07-01

    Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis. Laboratories delivering NIPT for aneuploidy were asked to submit two example reports; one high and one low risk result. Reports were reviewed for content and discussed at a meeting of laboratory providers and clinicians held at the ISPD 2016 conference in Berlin. Of the 122 laboratories that responded, 50 issued reports for NIPT and 43 of these submitted sample reports. Responses and reports were discussed by 72 attendees at the meeting. Consensus opinion was determined in several areas and used to develop best practice guidelines for reporting of NIPT results. Across Europe, there is considerable variation in reporting NIPT results. Here, we describe minimum best practice guidelines, which will be distributed to European laboratories, and reports audited in subsequent external quality assurance cycles. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  6. Prenatal Marijuana Exposure and Intelligence Test Performance at Age 6

    Science.gov (United States)

    Goldschmidt, Lidush; Richardson, Gale A.; Willford, Jennifer; Day, Nancy L.

    2008-01-01

    A study was conducted on lower income population women who were moderate users of marijuana to examine the effects of prenatal marijuana exposure on children's intellectual development at the age of six. Results concluded that the Cognitive deficits noticed at the age of six were specific to verbal and quantitative reasoning and short-term memory.

  7. Noninvasive prenatal testing in routine clinical practice for a high-risk population

    OpenAIRE

    Qi, Guijie; Yi, Jianping; HAN Baosheng; Liu, Heng; Guo, Wanru; Shi, Chong; Yin, Lirong

    2016-01-01

    Abstract This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital. NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive tes...

  8. Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

    Directory of Open Access Journals (Sweden)

    Rosa Maria Soares Madeira Domingues

    2014-10-01

    Full Text Available OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between 2011 and 2012. Data were obtained using interviews with postpartum women, hospital records, and prenatal care cards. All postpartum women with a reactive serological test result recorded in the prenatal care card or syphilis diagnosis during hospitalization for childbirth were considered cases of syphilis in pregnancy. The Chi-square test was used for determining the disease prevalence and testing coverage rate by region of residence, self-reported skin color, maternal age, and type of prenatal and child delivery care units. RESULTS Prenatal care covered 98.7% postpartum women. Syphilis testing coverage rate was 89.1% (one test and 41.2% (two tests, and syphilis prevalence in pregnancy was 1.02% (95%CI 0.84;1.25. A lower prenatal coverage rate was observed among women in the North region, indigenous women, those with less education, and those who received prenatal care in public health care units. A lower testing coverage rate was observed among residents in the North, Northeast, and Midwest regions, among younger and non-white skin-color women, among those with lower education, and those who received prenatal care in public health care units. An increased prevalence of syphilis was observed among women with < 8 years of education (1.74%, who self-reported as black (1.8% or mixed (1.2%, those who did not receive prenatal care (2.5%, and those attending public (1.37% or mixed (0.93% health care units. CONCLUSIONS The estimated prevalence of syphilis in pregnancy was similar to that reported in the last sentinel surveillance study conducted in 2006. There was an improvement in prenatal care and testing coverage rate, and the goals suggested by the World Health Organization were achieved in two regions

  9. Health behaviour information provided to clients during midwife-led prenatal booking visits: findings from video analyses.

    NARCIS (Netherlands)

    Baron, R.; Martin, L.; Gitsels-van der Wal, J.T.; Noordman, J.; Heymans, M.W.; Spelten, E.; Brug, J.; Hutton, E.K.

    2017-01-01

    Objective: to quantify to what extent evidence-based health behaviour topics relevant for pregnancy are discussed with clients during midwife-led prenatal booking visits and to assess the association of client characteristics with the extent of information provided. Design: quantitative video

  10. The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services

    Directory of Open Access Journals (Sweden)

    Deborah Pergament

    2014-12-01

    Full Text Available This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS, the Food and Drug Administration (FDA and the Federal Trade Commission (FTC, play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

  11. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2014-06-01

    Full Text Available Noninvasive prenatal testing (NIPT offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  12. It's More Than a Blood Test: Patients' Perspectives on Noninvasive Prenatal Testing.

    Science.gov (United States)

    Farrell, Ruth M; Mercer, Mary Beth; Agatisa, Patricia K; Smith, Marissa B; Philipson, Elliot

    2014-06-19

    Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  13. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Science.gov (United States)

    Farrell, Ruth M.; Mercer, Mary Beth; Agatisa, Patricia K.; Smith, Marissa B.; Philipson, Elliot

    2014-01-01

    Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology. PMID:26237393

  14. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives

    NARCIS (Netherlands)

    van Schendel, Rachel V; Page-Christiaens, Lieve|info:eu-repo/dai/nl/068392087; Beulen, Lean; Bilardo, Catia M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H; van Langen, Irene M; Lichtenbelt, Klaske D|info:eu-repo/dai/nl/30481816X; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2016-01-01

    OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at

  15. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. : Part II - Women's Perspectives

    NARCIS (Netherlands)

    van Schendel, Rachel V; Page-Christiaens, Lieve; Beulen, Lean; Bilardo, Catia M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H; van Langen, Irene M; Lichtenbelt, Klaske D; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2016-01-01

    OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at

  16. 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; Bittar Gonzalez, Maria G; Llambi, Laura; Gibbons, Luz; Smith, Ruben A; Buekens, Pierre; Belizán, José M; Althabe, Fernando

    2015-06-01

    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.

  17. Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.

    Science.gov (United States)

    Barrett, Angela Natalie; Advani, Henna Vishal; Chitty, Lyn S; Su, Lin Lin; Biswas, Arijit; Tan, Wei Ching; Hill, Melissa; Choolani, Mahesh

    2017-06-01

    Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences. A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants. The women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD. Our data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.

  18. Identifying craniofacial features associated with prenatal exposure to androgens and testing their relationship with brain development.

    Science.gov (United States)

    Marečková, Klára; Chakravarty, Mallar M; Lawrence, Claire; Leonard, Gabriel; Perusse, Daniel; Perron, Michel; Pike, Bruce G; Richer, Louis; Veillette, Suzanne; Pausova, Zdenka; Paus, Tomáš

    2015-11-01

    We used magnetic resonance (MR) images obtained in same-sex and opposite-sex dizygotic twins (n = 119, 8 years of age) to study possible effects of prenatal androgens on craniofacial features. Using a principal component analysis of 19 craniofacial landmarks placed on the MR images, we identified a principal component capturing craniofacial features that distinguished females with a presumed differential exposure to prenatal androgens by virtue of having a male (vs. a female) co-twin (Cohen's d = 0.76). Subsequently, we tested the possibility that this craniofacial "signature" of prenatal exposure to androgens predicts brain size, a known sexually dimorphic trait. In an independent sample of female adolescents (singletons; n = 462), we found that the facial signature predicts up to 8% of variance in brain size. These findings are consistent with the organizational effects of androgens on brain development and suggest that the facial signature derived in this study could complement other indirect measures of prenatal exposure to androgens.

  19. Prenatal nutrition, epigenetics and schizophrenia risk: can we test causal effects?

    Science.gov (United States)

    Kirkbride, James B; Susser, Ezra; Kundakovic, Marija; Kresovich, Jacob K; Davey Smith, George; Relton, Caroline L

    2012-06-01

    We posit that maternal prenatal nutrition can influence offspring schizophrenia risk via epigenetic effects. In this article, we consider evidence that prenatal nutrition is linked to epigenetic outcomes in offspring and schizophrenia in offspring, and that schizophrenia is associated with epigenetic changes. We focus upon one-carbon metabolism as a mediator of the pathway between perturbed prenatal nutrition and the subsequent risk of schizophrenia. Although post-mortem human studies demonstrate DNA methylation changes in brains of people with schizophrenia, such studies cannot establish causality. We suggest a testable hypothesis that utilizes a novel two-step Mendelian randomization approach, to test the component parts of the proposed causal pathway leading from prenatal nutritional exposure to schizophrenia. Applied here to a specific example, such an approach is applicable for wider use to strengthen causal inference of the mediating role of epigenetic factors linking exposures to health outcomes in population-based studies.

  20. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening.

    Science.gov (United States)

    Chetty, Shilpa; Garabedian, Matthew J; Norton, Mary E

    2013-06-01

    The aim of this study was to investigate how the introduction of noninvasive prenatal testing (NIPT) impacted women's testing choices following a positive prenatal screening (PNS) result. Beginning in March 2012, women referred to our Prenatal Diagnosis Center following a positive PNS result were offered NIPT or invasive prenatal diagnosis. Rates of invasive testing and declining follow-up were compared with testing decisions the prior year. Differences were compared using t-test and chi-square. Multivariable logistic regression was performed to identify predictors of test choice. Between March 2012 and February 2013, 398 screen positive women were seen: 156 (39.2%) underwent invasive testing, 157 (39.4%) had NIPT and 84 (21.1%) declined further testing. In the prior year, 638 screen positive patients were seen: 301 (47.2%) had invasive testing and 337 (52.8%) declined. The rate of invasive testing declined significantly (p = 0.012). Moreover, fewer women declined follow-up testing after introduction of NIPT, 21.2% versus 52.8%, p ≤ 0.001. Race/ethnicity and timing of results (first versus second trimester) were predictors of testing choices; payer and maternal age were not. The introduction of NIPT resulted in a significant decrease in invasive diagnostic testing. Additionally, fewer women declined further testing when NIPT was available. © 2013 John Wiley & Sons, Ltd.

  1. Experiences of high-risk pregnant women who were offered a choice between non-invasive prenatal testing, invasive testing or no follow-up test

    NARCIS (Netherlands)

    Van Schendel, Rachel; Page-Christiaens, Lieve; Beulen, Lean; Bilardo, Katia; De Boer, Marjon; Coumans, Audrey; Faas, Brigitte; Van Langen, Irene; Lichtenbelt, Klaske; Van Maarle, Merel; Macville, Merryn; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2015-01-01

    OBJECTIVES: The TRIDENT study (Trial by Dutch laboratories for Evaluation of Non-Invasive Prenatal Testing) evaluates the implementation of non-invasive prenatal testing (NIPT) in the Dutch healthcare system. Here we report on the preferences and experiences of pregnant women at high risk for fetal

  2. Oral-systemic health during pregnancy: exploring prenatal and oral health providers' information, motivation and behavioral skills.

    Science.gov (United States)

    Vamos, Cheryl A; Walsh, Margaret L; Thompson, Erika; Daley, Ellen M; Detman, Linda; DeBate, Rita

    2015-06-01

    Pregnancy is identified as a sensitive period of increased risk for poor oral health among mothers and offspring. Subsequently, both medical and dental associations have re-endorsed consolidated, inter-professional guidelines promoting oral health during pregnancy. The objective was to explore prenatal and oral health providers' information, motivation and practice behaviors related to oral health during pregnancy. Twenty-two in-depth interviews were conducted with prenatal and oral health providers based on the Information-Motivation-Behavioral Skills Model. Data were analyzed using the constant comparative method in NVivo 10. Providers held variable knowledge with regards to identified oral-systemic connections and implications. Most providers were unaware of the guidelines; however, some oral health providers reported avoiding specific treatment behaviors during this period. Motivation to address oral-systemic health during pregnancy included: prevention; healthy pregnancy/birth outcomes; patient's complaint/question as cue to action; comprehensive, patient-centered, and family-centered care; ethical duty; and professional governing body. Oral health providers reported assessing, educating, and communicating with patients about oral health issues; whereas prenatal providers rarely addressed oral health but reported signing approval forms to receive such care. A few oral health providers highlighted lifecourse implications and the need for family-centered care when addressing poor oral health among pregnant patients. Findings suggest gaps in oral health prevention information and behaviors among prenatal and oral health providers. Future efforts should examine effective dissemination and implementation strategies that translate evidence-based guidelines into clinical practice, with the ultimate goal of improve oral-systemic health among women and their offspring across the lifecourse.

  3. Considering medical risk information and communicating values: A mixed-method study of women's choice in prenatal testing.

    Directory of Open Access Journals (Sweden)

    An Chen

    Full Text Available Nowadays, an important decision for pregnant women is whether to undergo prenatal testing for aneuploidies and which tests to uptake. We investigate the factors influencing women's choices between non-invasive prenatal testing (NIPT and invasive prenatal tests in pregnancies with elevated a priori risk of fetal aneuploidies.This is a mixed-method study. We used medical data (1st Jan 2015-31st Dec 2015 about women participating in further testing at Fetomaternal Medical Center at Helsinki University Hospital and employed Chi-square tests and ANOVA to compare the groups of women choosing different methods. Multinomial logistic regressions revealed the significant clinical factors influencing women's choice. We explored the underlying values, beliefs, attitudes and other psychosocial factors that affect women's choice by interviewing women with the Theory of Planned Behavior framework. The semi-structured interview data were processed by thematic analysis.Statistical data indicated that gestational age and counseling day were strong factors influencing women's choice. Interview data revealed that women's values and moral principles on pregnancy and childbirth chiefly determined the choices. Behavioral beliefs (e.g. safety and accuracy and perceived choice control (e.g. easiness, rapidness and convenience were also important and the major trade-offs happened between these constructs.Values are the determinants of women's choice. Service availability and convenience are strong factors. Medical risk status in this choice context is not highly influential. Choice aids can be developed by helping women to identify their leading values in prenatal testing and by providing lists of value-matching test options and attributes.

  4. Considering medical risk information and communicating values: A mixed-method study of women’s choice in prenatal testing

    Science.gov (United States)

    Tenhunen, Henni; Torkki, Paulus; Heinonen, Seppo; Lillrank, Paul; Stefanovic, Vedran

    2017-01-01

    Introduction Nowadays, an important decision for pregnant women is whether to undergo prenatal testing for aneuploidies and which tests to uptake. We investigate the factors influencing women’s choices between non-invasive prenatal testing (NIPT) and invasive prenatal tests in pregnancies with elevated a priori risk of fetal aneuploidies. Methodology This is a mixed-method study. We used medical data (1st Jan 2015-31st Dec 2015) about women participating in further testing at Fetomaternal Medical Center at Helsinki University Hospital and employed Chi-square tests and ANOVA to compare the groups of women choosing different methods. Multinomial logistic regressions revealed the significant clinical factors influencing women’s choice. We explored the underlying values, beliefs, attitudes and other psychosocial factors that affect women’s choice by interviewing women with the Theory of Planned Behavior framework. The semi-structured interview data were processed by thematic analysis. Results Statistical data indicated that gestational age and counseling day were strong factors influencing women’s choice. Interview data revealed that women’s values and moral principles on pregnancy and childbirth chiefly determined the choices. Behavioral beliefs (e.g. safety and accuracy) and perceived choice control (e.g. easiness, rapidness and convenience) were also important and the major trade-offs happened between these constructs. Discussion Values are the determinants of women’s choice. Service availability and convenience are strong factors. Medical risk status in this choice context is not highly influential. Choice aids can be developed by helping women to identify their leading values in prenatal testing and by providing lists of value-matching test options and attributes. PMID:28355226

  5. [Maternal anxiety related to how the pediatrician provided prenatal information about preterm birth].

    Science.gov (United States)

    Dekens, C; Fontaine, C; Carpentier, E; Barcat, L; Gondry, J; Tourneux, P

    2017-11-01

    Women hospitalized for preterm labor require clear information about prematurity. This study assessed whether or not specific written information about prematurity delivered at admission to the unit combined with an oral explanation from a pediatrician would decrease women's anxiety compared to an oral explanation alone. This was a prospective, single-center observational study. Women were included in the high-risk pregnancies department and distributed into two groups: receiving "only oral" information for a prenatal clinical consultation with a senior pediatrician or receiving "combined" oral information+a booklet about prematurity given to the women at admission. The primary endpoint was the change in anxiety-state (before and after the information procedure) evaluated by the State Trait Anxiety Inventory-Y (STAI-Y). The anxiety score before receiving information did not differ between the two groups (STAI-Y-A "combined" group: 46.7±3.0 vs. "only oral" group: 42.7±2.74; P=0.55). After consultation with a pediatrician, the acute anxiety-state score STAI-Y-A decreased significantly in the "combined" group (-6.7±1.9) compared to the "only oral" group (-2.5±4.6; Pinformation from a pediatrician reduced patients' anxiety more than oral information alone. Given that the psychology of the mother interacts with the pregnancy, it is necessary to provide clear and adapted information. Giving a booklet appears to be one of the modalities to improve information. Other modalities such as video documents have to be studied. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  6. Women's opinions of legal requirements for drug testing in prenatal care.

    Science.gov (United States)

    Tucker Edmonds, Brownsyne; Mckenzie, Fatima; Austgen, MacKenzie B; Carroll, Aaron E; Meslin, Eric M

    2017-07-01

    To explore women's attitudes and perceptions regarding legal requirements for prenatal drug testing. Web-based survey of 500 US women (age 18-45) recruited from a market research survey panel. A 24-item questionnaire assessed their opinion of laws requiring doctors to routinely verbal screen and urine drug test patients during pregnancy; recommendations for consequences for positive drug tests during pregnancy; and opinion of laws requiring routine drug testing of newborns. Additional questions asked participants about the influence of such laws on their own care-seeking behaviors. Data were analyzed for associations between participant characteristics and survey responses using Pearson's chi-squared test. The majority of respondents (86%) stated they would support a law requiring verbal screening of all pregnant patients and 73% would support a law requiring universal urine drug testing in pregnancy. Fewer respondents were willing to support laws that required verbal screening or urine drug testing (68% and 61%, respectively) targeting only Medicaid recipients. Twenty-one percent of respondents indicated they would be offended if their doctors asked them about drug use and 14% indicated that mandatory drug testing would discourage prenatal care attendance. Women would be more supportive of policies requiring universal rather than targeted screening and testing for prenatal drug use. However, a noteworthy proportion of women would be discouraged from attending prenatal care - a reminder that drug testing policies may have detrimental effects on maternal child health.

  7. Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.

    Science.gov (United States)

    Griffin, Blanche; Edwards, Samantha; Chitty, Lyn S; Lewis, Celine

    2017-02-09

    Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an "easy" blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having "perfect babies". These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.

  8. Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

    Science.gov (United States)

    Dheedene, Annelies; Sante, Tom; De Smet, Matthias; Vanbellinghen, Jean-François; Grisart, Bernard; Vergult, Sarah; Janssens, Sandra; Menten, Björn

    2016-08-01

    To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. We validated a NIPT protocol for cell-free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument. Fetal DNA fraction calculation for all samples and several quality parameters were implemented in the workflow. One thousand eighty-one clinical NIPT samples were analysed, following the described protocol. Non-invasive prenatal testing was successfully implemented and validated on 201 normal and 74 aneuploid samples. From 1081 clinical samples, 17 samples showed an abnormal result: 14 trisomy 21 samples, one trisomy 18 and one trisomy 16 were detected. Also a maternal copy number variation on chromosome 13 was observed, which could potentially lead to a false positive trisomy 13 result. One sex discordant result was reported, possibly attributable to a vanishing twin. Moreover, our combined fetal fraction calculation enabled a more reliable risk estimate for trisomy 13, 18 and 21. Non-invasive prenatal testing for trisomy 21, 18 and 13 has a very high specificity and sensitivity. Because of several biological phenomena, diagnostic invasive confirmation of abnormal results remains required. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  9. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Sam Riedijk

    2014-07-01

    Full Text Available Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK for all indications for prenatal diagnosis (PND. The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple’s resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array.

  10. The clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, L; Faas, B; Feenstra, I; van Vugt, J M; Bekker, M N

    ObjectivesThis study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic testing in pregnancies with abnormal ultrasound findings.MethodsA retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal

  11. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    NARCIS (Netherlands)

    Croonen, Ellen A.; Nillesen, Willy M.; Stuurman, Kyra E.; Oudesluijs, Gretel; van de Laar, Ingrid M. B. M.; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B.; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H. W.; van der Burgt, Ineke; Yntema, Helger G.

    2013-01-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a

  12. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact

    NARCIS (Netherlands)

    Oepkes, Dick; Page-Christiaens, Lieve C; Bax, Caroline J; Bekker, Mireille N; Bilardo, Catia M; Boon, Elles M J; Schuring-Blom, G Heleen; Coumans, Audrey B C; Faas, Brigitte H; Galjaard, Robert-Jan H; Go, Attie T; Henneman, Lidewij; Macville, Merryn V E; Pajkrt, Eva; Suijkerbuijk, Ron F; Huijsdens-vanAmsterdam, Karin; Van Opstal, Diane; Verweij, E J Joanne; Weiss, Marjan M; Sistermans, Erik A

    2016-01-01

    OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history,

  13. Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

    NARCIS (Netherlands)

    Schendel, R.V. van; Page-Christiaens, G.; Beulen, L.; Bilardo, C.M.; Boer, M.A. de; Coumans, A.B.C.; Faas, B.H.W.; Langen, I.M. van; Lichtenbelt, K.D.; Maarle, M.C. van; Macville, M.V.E.; Oepkes, D.; Pajkrt, E.; Henneman, L.

    2017-01-01

    Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated

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

    Directory of Open Access Journals (Sweden)

    S.W. Steven Shaw

    2013-12-01

    Full Text Available 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.

  15. 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. Copyright © 2013. Published by Elsevier B.V.

  16. Canadian women's attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma (.).

    Science.gov (United States)

    Pariente, Gali; Hasan, Lara; Gadot, Yifat; De Souza, Leanne R; Lebovic, Gerald; Berger, Howard

    2016-12-01

    To determine the perceptions and attitudes of Canadian women to Noninvasive Prenatal Testing of fetal DNA. A designed questionnaire was administered to women attending the outpatient antenatal clinic at a tertiary urban hospital. Attitudes to current and new prenatal screening modalities were assessed using a five-point Likert scale. Bowker's test of symmetry was used to compare individual responses regarding the two screening modalities. Changes in women's responses pre- and post-delivery were also compared. One hundred and twenty-nine women were enrolled in this study. 88% of women state that they would perform prenatal screening via fetal DNA in the maternal plasma if available. When compared to conventional screening, significantly less women believe that the NIPT should be available upon request for non-medical traits (36.4% versus 60.4%, p ethical concerns. This information can be used when implementing new genetic screening programs.

  17. How do the trends in the prenatal diagnosis of aneuploidy change after a non-invasive prenatal test becomes available? A Japanese single center study.

    Science.gov (United States)

    Hasegawa, Junichi; Nakamura, Masamitsu; Sekizawa, Akihiko

    2015-04-01

    To clarify the trends in the use of the prenatal diagnosis of and screening for aneuploidy after a non-invasive prenatal test (NIPT) was made available at a single Japanese hospital. The subjects included consecutive pregnant females who visited our hospital for maternal checkups and delivery between January 2012 and April 2014. After the subjects were divided into those who desired a prenatal diagnosis or screening before the availability of NIPT and those who did after the availability of NIPT, the frequencies of various prenatal diagnosis and screening procedures were compared between the two groups. A total of 544 patients who visited the hospital before NIPT was available and 703 who visited the hospital after NIPT became available were analyzed. While only 16.2 % of pregnant females received a prenatal diagnosis or screening before the NIPT was available, 27.5 % of them considered undergoing a prenatal diagnosis or screening after the NIPT was available before genetic counseling, and 24.0 % ultimately received a prenatal diagnosis or screening following genetic counseling. Of these patients, 7.7 % underwent NIPT. First trimester ultrasound screening for chromosomal abnormalities was unlikely to be selected (from 12.9 to 10.5 %, p = 0.212), although the rate of amniocentesis significantly increased after genetic counseling (from 1.5 to 3.7 %, p = 0.021). Since NIPT became available in 2013, pregnant females have demonstrated a deep interest in obtaining a prenatal diagnosis and screening. Whereas some patients choose to forgo a screening after receiving genetic counseling, others prefer invasive diagnostic tests in contrast to screening.

  18. Online direct-to-consumer messages about non-invasive prenatal genetic testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2015-12-01

    Full Text Available Non-invasive prenatal testing (NIPT has been integrated into clinical care at a time when patients and healthcare providers increasingly utilize the internet to access health information. This study evaluated online direct-to-consumer information about NIPT produced by commercial laboratories accessible to both patients and healthcare providers. A coding checklist captured areas to describe content and assess concordance with clinical guidelines. We found that the information presented about NIPT is highly variable, both within a single website and broadly across all websites. Variability was noted in how NIPT is characterized, including test characteristics and indications. All laboratories offer NIPT to test for common sex chromosome aneuploidies, although there is a lack of consistency regarding the conditions offered and information provided about each. Although indicated for a subset of women at increased risk of aneuploidy, some laboratories describe the use of NIPT for all pregnant women. A subset of laboratories offers screening for microdeletions, although clinical practice guidelines do not yet recommend for general use for this indication. None of the online materials addressed the ethical issues associated with NIPT. This study highlights the need for clear, consistent, and evidence-based materials to educate patients and healthcare providers about the current and emerging applications of NIPT.

  19. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

    NARCIS (Netherlands)

    Hill, Melissa; Johnson, Jo-Ann; Langlois, Sylvie; Lee, Hyun; Winsor, Stephanie; Dineley, Brigid; Horniachek, Marisa; Lalatta, Faustina; Ronzoni, Luisa; Barrett, Angela N.; Advani, Henna V.; Choolani, Mahesh; Rabinowitz, Ron; Pajkrt, Eva; van Schendel, Rachèl V.; Henneman, Lidewij; Rommers, Wieke; Bilardo, Caterina M.; Rendeiro, Paula; Ribeiro, Maria João; Rocha, José; Bay Lund, Ida Charlotte; Petersen, Olav B.; Becher, Naja; Vogel, Ida; Stefánsdottir, Vigdis; Ingvarsdottir, Sigrun; Gottfredsdottir, Helga; Morris, Stephen; Chitty, Lyn S.

    2016-01-01

    Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down

  20. Preferences for prenatal tests for Down syndrome : an international comparison of the views of pregnant women and health professionals

    NARCIS (Netherlands)

    Hill, Melissa; Johnson, Jo-Ann; Langlois, Sylvie; Lee, Hyun; Winsor, Stephanie; Dineley, Brigid; Horniachek, Marisa; Lalatta, Faustina; Ronzoni, Luisa; Barrett, Angela N.; Advani, Henna V.; Choolani, Mahesh; Rabinowitz, Ron; Pajkrt, Eva; van Schendel, Rachel V.; Henneman, Lidewij; Rommers, Wieke; Bilardo, Caterina M.; Rendeiro, Paula; Ribeiro, Maria Joao; Rocha, Jose; Lund, Ida Charlotte Bay; Petersen, Olav B.; Becher, Naja; Vogel, Ida; Stefansdottir, Vigdis; Ingvarsdottir, Sigrun; Gottfredsdottir, Helga; Morris, Stephen; Chitty, Lyn S.

    Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down

  1. [The noninvasive prenatal testing for Down's Syndrome. Retrospective study of 8821 patients].

    Science.gov (United States)

    Belloin, C; Jacquemard, F; Bernabé-Dupont, C; Viot, G; Lohmann, L; Grangé, G

    2016-11-01

    To demonstrate the decrease in intrauterine invasive procedures through analysis of DNA fetoplacental free circulating in maternal blood: Non Invasive Prenatal Test (NIPT), in Prenatal Diagnosis Center of American Hospital of Paris (AHP). Retrospective descriptive study of 8821 patients in Prenatal Diagnosis Center at the AHP between 01/01/2012 and 09/25/2014. The NIPT is available to patients since 1st January 2013. The number of invasive procedures decreased significantly (P<0.0001) between 2012 (n=1177, i.e. 42 % of the global activity of the Prenatal Diagnosis Center at the AHP in 2012) and 2013 (n=987 or 28.5 %) and between 2013 and 2014 (n=599 or 23.4 %). The NIPT calculated performance statistics are: sensitivity≥99.9 %; specificity=99.8 %; Positive Predictive Value=90.4 %; Negative Predictive Value≥99.9 %; False Positives=3. While the actual screening statistic values are: sensitivity≥95.4 %; specificity=82.5 %; Positive Predictive Value=6.5 %; Negative Predictive Value=99.9 %; False Positives=1197. The NIPT has reduced the number of invasive procedures at the Prenatal Diagnosis Center at the AHP. The NIPT performances are superior to those of the actual screening. Copyright © 2016. Published by Elsevier Masson SAS.

  2. The Application of Next Generation Sequencing Technology on Noninvasive Prenatal Test

    DEFF Research Database (Denmark)

    Jiang, Hui

    generation sequencing, makes NIPT for rare diseases possible. In this study, we applied sequencing-based noninvasive prenatal testing for common aneuoploidy detection, such as trisomy 21, 18, and 13. The new approach using low-coverage whole genome sequencing for maternal plasma DNA could achieve...

  3. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  4. NIPTRIC : an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Johansson, Lennart F.; de Boer, Eddy N.; Boon, Elles M. J.; Suijkerbuijk, Ron F.; Bouman, Katelijne; Bilardo, Katia; Swertz, Morris A.; Dijkstra, Martijn; van Langen, Irene M.; Sinke, Richard J.; Meerman, te Gerard J.

    2016-01-01

    To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to

  5. Health behaviour information provided to clients during midwife-led prenatal booking visits: Findings from video analyses.

    Science.gov (United States)

    Baron, Ruth; Martin, Linda; Gitsels-van der Wal, Janneke T; Noordman, Janneke; Heymans, Martijn W; Spelten, Evelien R; Brug, Johannes; Hutton, Eileen K

    2017-11-01

    to quantify to what extent evidence-based health behaviour topics relevant for pregnancy are discussed with clients during midwife-led prenatal booking visits and to assess the association of client characteristics with the extent of information provided. quantitative video analyses. 173 video recordings of prenatal booking visits with primary care midwives and clients in the Netherlands taking place between August 2010 and April 2011. thirteen topics regarding toxic substances, nutrition, maternal weight, supplements, and health promoting activities were categorized as either 'never mentioned', 'briefly mentioned', 'basically explained' or 'extensively explained'. Rates on the extent of information provided were calculated for each topic and relationships between client characteristics and dichotomous outcomes of the extent of information provided were assessed using Generalized Linear Mixed Modelling. our findings showed that women who did not take folic acid supplementation, who smoked, or had a partner who smoked, were usually provided basic and occasionally extensive explanations about these topics. The majority of clients were provided with no information on recommended weight gain (91.9%), fish promotion (90.8%), caffeine limitation (89.6%), vitamin D supplementation (87.3%), physical activity promotion (81.5%) and antenatal class attendance (75.7%) and only brief mention of alcohol (91.3%), smoking (81.5%), folic acid (58.4) and weight at the start of pregnancy (52.0%). The importance of a nutritious diet was generally either never mentioned (38.2%) or briefly mentioned (45.1%). Nulliparous women were typically given more information on most topics than multiparous women. although additional information was generally provided about folic acid and smoking, when relevant for their clients, the majority of women were provided with little or no information about the other health behaviours examined in this study. Midwives may be able to improve prenatal health

  6. Knowledge and Attitudes toward Non-invasive Prenatal Testing among Pregnant Japanese Women.

    Science.gov (United States)

    Mikamo, Shoko; Nakatsuka, Mikiya

    2015-01-01

    To assess the knowledge and attitudes of pregnant Japanese women regarding non-invasive prenatal testing (NIPT). Between March and June 2013, 557 pregnant women in the Hyogo and Hiroshima Prefectures were surveyed using an anonymous, self-completed questionnaire. A total of 91.9% respondents (512/557) stated that they "agree" or "conditionally agree" with NIPT implementation in Japan. Approximately 28.5% of respondents stated that they knew that the accuracy of a positive NIPT result can be affected by mother's age and background, while 34.5% of respondents stated that it was necessary for pregnant women with a positive result to undergo fetal chromosome diagnosis using amniocentesis;both percentages were low. Additionally, 92.3% of respondents would "like a detailed explanation of the test," 65.1% of them would "like psychological support if the NIPT test results came back positive," and 5.7% would terminate the pregnancy if the NIPT test results came back positive without undergoing fetal chromosome diagnosis via amniocentesis. Although a high proportion of pregnant Japanese women agreed with the introduction of NIPT into Japanese obstetrical care, there was insufficient knowledge regarding the test. It is necessary for women undergoing NIPT to be provided sufficient information and psychological support.

  7. 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

  8. 'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing.

    Science.gov (United States)

    Lewis, Celine; Choudhury, Mahrufa; Chitty, Lyn S

    2015-05-01

    To investigate how non-invasive prenatal testing (NIPT) is portrayed in the UK press media. Content analysis of the ten most widely circulated print/digital news sources in the UK. Seventy-nine articles were identified focusing on NIPT for Down syndrome (n = 67) including single gene disorders (n = 5), whole genome sequencing (n = 8), NIPT technology (n = 2), Rhesus D (n = 1) and fetal sex determination (n = 1). The majority (63%) were in 'serious' papers. Test attributes were frequently cited (100%), in particular that NIPT is a blood test (89%) and avoids risk of miscarriage (56%). The main psychosocial benefit reported was increased time for decision-making (15%). Concerns were discussed less frequently than benefits (39%), with increase in termination rates the main concern raised (23%). The majority of headlines (52%) projected a positive frame towards NIPT. Regarding overall framing of articles, over two thirds (68%) presented benefits and concerns or limitations; however, only a third (35%) were considered 'balanced'. Positive reporting of NIPT in the UK news media reflects the publics' broadly optimistic view towards genomic technology and prenatal testing. Health professionals should be aware that women may have incomplete information or misunderstandings about NIPT. Pre-test counselling to ensure informed decision-making is therefore important. © 2014 John Wiley & Sons, Ltd.

  9. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.

    Science.gov (United States)

    Yotsumoto, Junko; Sekizawa, Akihiko; Suzumori, Nobuhiro; Yamada, Takahiro; Samura, Osamu; Nishiyama, Miyuki; Miura, Kiyonori; Sawai, Hideaki; Murotsuki, Jun; Kitagawa, Michihiro; Kamei, Yoshimasa; Masuzaki, Hideaki; Hirahara, Fumiki; Endo, Toshiaki; Fukushima, Akimune; Namba, Akira; Osada, Hisao; Kasai, Yasuyo; Watanabe, Atsushi; Katagiri, Yukiko; Takeshita, Naoki; Ogawa, Masaki; Okai, Takashi; Izumi, Shunichiro; Hamanoue, Haruka; Inuzuka, Mayuko; Haino, Kazufumi; Hamajima, Naoki; Nishizawa, Haruki; Okamoto, Yoko; Nakamura, Hiroaki; Kanegawa, Takeshi; Yoshimatsu, Jun; Tairaku, Shinya; Naruse, Katsuhiko; Masuyama, Hisashi; Hyodo, Maki; Kaji, Takashi; Maeda, Kazuhisa; Matsubara, Keiichi; Ogawa, Masanobu; Yoshizato, Toshiyuki; Ohba, Takashi; Kawano, Yukie; Sago, Haruhiko

    2016-12-01

    The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed. They expressed high satisfaction with the genetic counseling system of the NIPT Consortium (94%). The number of respondents who indicated that genetic counseling is necessary for NIPT increased over time. Furthermore, they highly valued genetic counseling provided by skilled clinicians, such as clinical geneticists or genetic counselors. The vast majority (90%) responded that there was sufficient opportunity to consider the test ahead of time. Meanwhile, women who received positive test results had a poor opinion and expressed a low-degree satisfaction. We confirmed that the pre-test genetic counseling that we conducted creates an opportunity for pregnant women to sufficiently consider prenatal testing, promotes its understanding and has possibilities to effectively facilitate informed decision making after adequate consideration. A more careful and thorough approach is considered to be necessary for women who received positive test results.

  10. Noninvasive prenatal testing in China: Future detection of rare genetic diseases?

    Science.gov (United States)

    Mei, Lin; Tang, Qi; Sun, Baiyu; Xu, Lingzhong

    2014-08-01

    Noninvasive prenatal testing (NIPT) provides an innovative method to detect genetic conditions in fetuses using a maternal blood sample, thus avoiding the risk of miscarriage associated with traditional invasive procedures. Since 80% of rare diseases are genetic diseases, NIPT has the potential to detect rare genetic diseases early on and it has been used in many countries and regions. Since China has the world's largest population of patients with rare diseases, NIPT has been implemented in China since 2010. However, the regulations governing NIPT in China are weak and NIPT oversight and research are still lacking. Strict registration is needed to ensure the quality of NIPT, additional certification can help a developer/manufacturer of an NIPT test to compile clinical data and to improve innovation, and academic societies can provide committee opinions that are suited to the current situation in China. These efforts may improve regulations governing NIPT and NIPT oversight and research in China. With these improvements, NIPT may offer promise in terms of the early detection of rare diseases.

  11. Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing

    Science.gov (United States)

    Helgeson, J.; Wardrop, J.; Boomer, T.; Almasri, E.; Paxton, W. B.; Saldivar, J. S.; Dharajiya, N.; Monroe, T. J.; Farkas, D. H.; Grosu, D. S.

    2015-01-01

    Abstract Objective A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory‐based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosomal events. Methods Blood samples from high‐risk pregnant women submitted for noninvasive prenatal testing were analyzed using low coverage whole genome massively parallel sequencing. Sequencing data were analyzed using a novel algorithm to detect trisomies and microdeletions. Results In testing 175 393 samples, 55 subchromosomal deletions were reported. The overall positive predictive value for each subchromosomal aberration ranged from 60% to 100% for cases with diagnostic and clinical follow‐up information. The total false positive rate was 0.0017% for confirmed false positives results; false negative rate and sensitivity were not conclusively determined. Conclusion Noninvasive testing can be expanded into the detection of subchromosomal copy number variations, while maintaining overall high test specificity. In the current setting, our results demonstrate high positive predictive values for testing of rare subchromosomal deletions. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:26088833

  12. Provider Adherence to Syphilis Testing Recommendations for Women Delivering a Stillbirth.

    Science.gov (United States)

    Patel, Chirag G; Huppert, Jill S; Tao, Guoyu

    2017-11-01

    To assess overall adherence to Centers for Disease Control and Prevention and American College of Obstetrics and Gynecology recommended guidelines for syphilis testing among women who delivered a stillbirth and compare it with other tests recommended for stillbirth evaluation. We used MarketScan claims data with 40 million commercially insured and 8 million Medicaid enrollees annually to estimate prenatal care and follow-up testing among women who had stillbirths between January 1, 2013, and December 24, 2013. Stillbirth was identified if women had any International Classification of Disease, Ninth Revision codes related to a stillbirth outcome. Among women with stillbirths, we estimated the proportions of women who received prenatal care and prenatal syphilis testing within 280 days before stillbirth, and testing at the time of stillbirth (syphilis testing, complete blood count, placental examination and autopsy) using Physician's Current Procedural Terminology codes. We identified 3672 Medicaid-insured women and 6023 commercially insured women with stillbirths in 2013. Approximately, 61.7% of Medicaid-insured women and 66.0% of commercially insured women had claims data indicating prenatal syphilis testing. At the time of stillbirth, Medicaid-insured and commercially insured women had similar rates of syphilis testing (6.5% vs 9.3%), placental examination (61.6% vs 57.8%), and complete blood count (31.9% vs 37.6%). Autopsies were too infrequent to be reported. Approximately, 34.6% of Medicaid-insured women and 29.7% of commercially insured women had no syphilis testing either prenatally or at the time of stillbirth. Syphilis testing among women after stillbirth was less than 10%, illustrating limited adherence to Centers for Disease Control and Prevention and American College of Obstetrics and Gynecology recommendations. Such low prenatal and delivery syphilis testing rates may impact the number of stillbirth cases identified as congenital syphilis cases and

  13. 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 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.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.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 similar approach may be beneficial in other resource

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

    Science.gov (United States)

    Schackman, Bruce R; Neukermans, Christopher P; Fontain, Sandy N Nerette; Nolte, Claudine; Joseph, Patrice; Pape, Jean W; Fitzgerald, Daniel W

    2007-05-01

    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. 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. 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 similar approach may be beneficial in other resource-poor countries

  15. Do prenatally methamphetamine-exposed adult male rats display general predisposition to drug abuse in the conditioned place preference test?

    Science.gov (United States)

    Šlamberová, R; Pometlová, M; Schutová, B; Hrubá, L; Macúchová, E; Nová, E; Rokyta, R

    2012-01-01

    Drug abuse of pregnant women is a growing problem. The effect of prenatal drug exposure may have devastating effect on development of the offsprings that may be long-term or even permanent. One of the most common drug abused by pregnant women is methamphetamine (MA), which is also the most frequently abused illicit drug in the Czech Republic. Our previous studies demonstrated that prenatal MA exposure alters behavior, cognition, pain and seizures in adult rats in sex-specific manner. Our most recent studies demonstrate that prenatal MA exposure makes adult rats more sensitive to acute injection of the same or related drugs than their controls. The aim of the present study was to examine the effect of prenatal MA exposure on drug-seeking behavior of adult male rats tested in the Conditioned place preference (CPP). Adult male rats were divided to: prenatally MA-exposed (5 mg/kg daily for the entire prenatal period), prenatally saline-exposed (1 ml/kg of physiological saline) and controls (without maternal injections). The following drugs were used in the CPP test in adulthood: MA (5 mg/kg), amphetamine (5 mg/kg), cocaine (5 and 10 mg/kg), morphine (5 mg/kg), MDMA (5 mg/kg) and THC (2 mg/kg). Our data demonstrated that prenatally MA-exposed rats displayed higher amphetamine-seeking behavior than both controls. MA as well as morphine induced drug-seeking behavior of adult male rats, however this effect did not differ based on the prenatal MA exposure. In contrast, prenatal MA exposure induced rather tolerance to cocaine than sensitization after the conditioning in the CPP. MDMA and THC did not induce significant effects. Even though the present data did not fully confirmed our hypotheses, future studies are planned to test the drug-seeking behavior also in self-administration test.

  16. Open source non-invasive prenatal testing platform and its performance in a public health laboratory.

    Science.gov (United States)

    Johansen, Peter; Richter, Stine R; Balslev-Harder, Marie; Miltoft, Caroline B; Tabor, Ann; Duno, Morten; Kjaergaard, Susanne

    2016-06-01

    The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Proton™ platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for fetal DNA fraction estimation. We furthermore validated a fetal sex determination analysis. The pipeline correctly detected 27/27 trisomy 21, 4/4 trisomy 18, and 3/3 trisomy 13 fetuses. Neither false negatives nor false positives (chromosomes 13, 18, and 21) were observed in our validation dataset. Fetal sex was identified correctly in all but one triploid fetus (172/173). SeqFF showed a strong correlation (R(2)  = 0.72) to Y-chromosomal content of the male fetus samples. We have implemented NIPT into Danish health care using published open source scripts for autosomal aneuploidy detection and fetal DNA fraction estimation showing excellent false negative and false positive rates. SeqFF provides a good estimation of fetal DNA fraction. This coupled with an analysis of fetal sex that provides a complete NIPT workflow, which may easily be adapted for implementation in other public health laboratories. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  17. Credibility of the combined test in prenatal diagnostics

    Directory of Open Access Journals (Sweden)

    Lončar Dragan

    2011-01-01

    Full Text Available Congenital anomalies are the cause of perinatal death in 20-25% of the cases, while 3% of children are born with malformation of varying size. The objective of this study was to examine the predictive value and define the credibility ratio of the combined test results. Of 317 examined pregnant women, we had sixteen (5.05% with the result of pathological karyotype after amniocentesis including: nine (2.84% with fetal numerical aberrations and seven (2.21% with fetal structural aberrations. While determining the ultrasonographic parameters of the combined test we used the standards of the Fetal Medicine Foundation. We carried out the quantitative settings of free β-HCG and PAPP-A from vein blood of patients by applying commercial tests of firm DPC-USA. Tests were based on the analytical immunochemiluminescence assay and were realized by using the automated analyzer IMMULITE 2000. Manufacturer of the analyzer is also the firm DPC-USA. Sensitivity of the test is 94%, and specificity is 99%. Positive likelihood ratio [likelihood ratio test (LR+] is 94.00, a negative likelihood ratio is [likelihood ratio test (LR-] 12:06. Pretest probability that pregnant women carries fetus with chromosomal abnormality is 1:250 or 0004. Posttest odds after the combined test to discover this abnormality is 0.3760, and probability of the same case is 0.2732 if it happens that the test result is positive. The result of our study confirms the justification of combined test usage in routine clinical practice, since the posttest odds rate in the case of a positive screening increases several times over (almost 90 times, the probability of detecting a chromosomal abnormality was about 70 times. Combined screening test if used methodologically correct, has a high predictive value in detecting fetal congenital anomalies.

  18. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.

    Science.gov (United States)

    McCullough, Ron M; Almasri, Eyad A; Guan, Xiaojun; Geis, Jennifer A; Hicks, Susan C; Mazloom, Amin R; Deciu, Cosmin; Oeth, Paul; Bombard, Allan T; Paxton, Bill; Dharajiya, Nilesh; Saldivar, Juan-Sebastian

    2014-01-01

    As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA-licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥ 35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5%) with 2.61% yielding a positive NIPT result. NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the current standard of care.

  19. Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea

    OpenAIRE

    Lee, Mi-Young; Cho, Dae-Yeon; Won, Hye-Sung; Hwang, Ah Reum; Jeong, Bada; Kim, Jihun; Oh, Mijin

    2015-01-01

    Objective To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. Methods This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPT results were compared with those of karyotype analyses. Results Among 93 eli...

  20. Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

    OpenAIRE

    Dheedene, Annelies; SANTE, TOM; De Smet, Matthias; Vanbellinghen, Jean-François; Grisart, Bernard; Vergult, Sarah; Janssens, Sandra; Menten, Björn

    2016-01-01

    Abstract Objectives To implement non?invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15?month experience on clinical samples. Methods We validated a NIPT protocol for cell?free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument. Fetal DNA fraction calculation for all samples and several quality parameters were implemen...

  1. Decision-making about prenatal genetic testing among pregnant Korean-American women.

    Science.gov (United States)

    Jun, Myunghee; Thongpriwan, Vipavee; Choi, Jeeyae; Sook Choi, Kyung; Anderson, Gwen

    2017-10-06

    to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. a qualitative, descriptive research design. referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U.S. ranged from 4 to 11 (M=5.7). various regional areas of the U.S. the researchers conducted face-to-face or phone interviews using semi-structured interview guides. The interviews were conducted in the Korean language and lasted approximately 50-100minutes. The interview guides focused on the decision-making process and experiences with prenatal genetic testing, as well as reflections on the decisions. Four core themes emerged related to the participants' decision-making processes, according to their descriptions. These themes are (1) facing the challenges of decision-making, (2) seeking support, (3) determining one's preferred role in the decision-making process, and (4) feeling uncomfortable with the degree of patient autonomy in U.S. health care. researchers concluded that many distinctive factors influence the decision-making processes used by pregnant Korean-American women. The results have the potential to improve shared decision-making practices regarding prenatal genetic testing. clinicians need to understand the sociocultural underpinnings of pregnant Korean-American immigrants regarding prenatal genetic screening and testing as an initial step to engage these patients in shared decision-making. Published by Elsevier Ltd.

  2. Non-invasive prenatal testing: a review of international implementation and challenges

    OpenAIRE

    Allyse M; Minear MA; Berson E; Sridhar.S; Rote M; Hung A; Chandrasekharan S

    2015-01-01

    Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & Society, Duke University, Durham, NC, USA, 3Trinity College of Arts and Sciences, Duke University, Durham, NC, USA; 4Duke Global Health Institute, Duke University, Durham, NC, USA Abstract: Noninvasive prenatal genetic testing (NIPT) is an adv...

  3. Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

    Science.gov (United States)

    Mayes, Sarah; Hashmi, Syed; Turrentine, Mark A.; Darilek, Sandra; Friel, Lara A.; Czerwinski, Jennifer

    2015-01-01

    Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. In October 2013, the option to screen for additional trisomies and select microdeletion syndromes became clinically available. The complex testing methods, oftentimes unclear clinical utility of results, and lack of professional guidelines renders it challenging for clinicians to keep abreast of evolving prenatal screening options. We undertook a survey to assess physicians' awareness of, utilization of, and attitudes toward the expanded NIPT option. Study Design Obstetricians attending hospital service meetings in the Houston Texas Medical Center completed an anonymous survey regarding the utilization patterns of expanded NIPT. Results Overall, 85 obstetricians were surveyed. While all respondents indicated awareness of NIPT in its traditional form, 75% (64/85) were aware of the expanded testing option, and 14% (12/85) reported having ordered the expanded NIPT option. A total of 91% (77/85) expressed that practitioners need more information regarding the screening. Conclusion Based on these findings and the fluid landscape of prenatal screening, education, and reeducation of health care professionals is imperative to ensure responsible patient counseling, informed consent, and appropriate posttest management. PMID:26929864

  4. Non-invasive Prenatal Testing (NIPT): Better Meet an Expert!

    Science.gov (United States)

    Ohnhaeuser, T.; Schmitz, D.

    2016-01-01

    While NIPT is being implemented rapidly, the implementation of a corresponding specialized counselling process in many respects lags behind. As a consequence, legal requirements and other testing conditions sometimes are not fulfilled adequately. The reported case illustrates the importance of trained personnel in the counselling and NIPT process and shows so far neglected risks for the pregnant woman and her reproductive autonomy. PMID:27064737

  5. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.

    Science.gov (United States)

    Ma, Jingmei; Cram, David S; Zhang, Jianguang; Shang, Ling; Yang, Huixia; Pan, Hong

    2015-01-01

    Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis. NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin. A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9. This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes.

  6. Report on noninvasive prenatal testing: classical and alternative approaches.

    Science.gov (United States)

    Pantiukh, Kateryna S; Chekanov, Nikolay N; Zaigrin, Igor V; Zotov, Alexei M; Mazur, Alexander M; Prokhortchouk, Egor B

    2016-01-01

    Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT). These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing. Two alternative approaches are ascertained: one based on maternal/fetal differential methylation and another based on allelic difference. While the former failed to provide stable results, the latter was found to be promising and worthy of conducting a large-scale trial. One critical point in any NIPT approach is the determination of fetal cell-free DNA fraction, which dictates the reliability of obtained results for a given sample. We show that two different chromosome Y representation measures-by real-time PCR and by whole-genome massive parallel sequencing-are practically interchangeable (r=0.94). We also propose a novel method based on maternal/fetal allelic difference which is applicable in pregnancies with fetuses of either sex. Even in its pilot form it correlates well with chromosome Y coverage estimates (r=0.74) and can be further improved by increasing the number of polymorphisms.

  7. Report on noninvasive prenatal testing: classical and alternative approaches [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Kateryna S. Pantiukh

    2016-04-01

    Full Text Available Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT. These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing. Two alternative approaches are ascertained: one based on maternal/fetal differential methylation and another based on allelic difference. While the former failed to provide stable results, the latter was found to be promising and worthy of conducting a large-scale trial. One critical point in any NIPT approach is the determination of fetal cell-free DNA fraction, which dictates the reliability of obtained results for a given sample. We show that two different chromosome Y representation measures—by real-time PCR and by whole-genome massive parallel sequencing—are practically interchangeable (r=0.94. We also propose a novel method based on maternal/fetal allelic difference which is applicable in pregnancies with fetuses of either sex. Even in its pilot form it correlates well with chromosome Y coverage estimates (r=0.74 and can be further improved by increasing the number of polymorphisms.

  8. The effect of different information sources on the anxiety level of pregnant women who underwent invasive prenatal testing.

    Science.gov (United States)

    Çakar, Mehmet; Tari Kasnakoglu, Berna; Ökem, Zeynep Güldem; Okuducu, Ümmühan; Beksaç, M Sinan

    2016-12-01

    The goal is to explore the effects of age, education, obstetric history and information sources on the (Beck) anxiety levels of pregnant women attending invasive prenatal testing. Questionnaire results from 152 pregnant women are utilized. Results are analyzed through an independent samples t-test and a two-step cluster analysis attempting to categorize patients in terms of the chosen variables. t-Tests reveal that age, education and bad obstetric history do not significantly affect anxiety levels. Descriptive statistics indicate that almost 60% of patients feel anxious mostly because of the fear of receiving bad news, followed by the fear of miscarriage, the fear of pain and the fear of hurting the baby. According to the cluster analysis, patients who use doctors or nurses as information sources have significantly lower anxiety levels, while those who do not receive information from any source have the second lowest level of anxiety. Patients who receive information from personal sources (i.e. friends and family) have the highest level of anxiety. Anxiety levels do not change according to test type. Doctors and nurses should allocate enough time for providing information about prenatal diagnosis before the procedure. This will reduce the anxiety level as well as the felt necessity to search for information from other sources, such as personal or popular which will further increase the level of anxiety.

  9. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.

    Directory of Open Access Journals (Sweden)

    Peter Benn

    Full Text Available Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT in the general pregnancy population.Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars.Replacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176 of cases, compared with 85.9% (11,314/13,176 by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264 in the general screening population.Based on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.

  10. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.

    Science.gov (United States)

    Benn, Peter; Curnow, Kirsten J; Chapman, Steven; Michalopoulos, Steven N; Hornberger, John; Rabinowitz, Matthew

    2015-01-01

    Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT) in the general pregnancy population. Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA) analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars. Replacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176) of cases, compared with 85.9% (11,314/13,176) by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264) in the general screening population. Based on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.

  11. Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.

    Science.gov (United States)

    Watanabe, Motoko; Matsuo, Mari; Ogawa, Masaki; Uchiyama, Toshitaka; Shimizu, Satoru; Iwasaki, Naoko; Yamauchi, Akemi; Urano, Mari; Numabe, Hironao; Saito, Kayoko

    2017-06-01

    The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit). Responses were analyzed to assess the differences between pregnant women and their partners. We found that more partners selected "family" as their first information source about NIPT and "my partner" as the first person to request NIPT than did pregnant women (35.6 vs. 5.9 %; p NIPT than their partners (89.1 vs. 54.6 %; p NIPT decision-making process. Differences between pregnant women and their partners should be seriously considered when providing genetic counseling.

  12. Does an information film about prenatal testing in early pregnancy affect women's anxiety and worries?

    Science.gov (United States)

    Björklund, Ulla; Marsk, Anna; Ohman, Susanne Georgsson

    2013-03-01

    To explore if an information film about prenatal examinations affects pregnant women's worry and anxiety. Randomized controlled study. The intervention was an information film about prenatal examinations. Data was collected in gestational week 26 by a questionnaire including the STAI (State-Trait Anxiety Inventory) instrument and further questions about worry. A total of 184 women in the intervention group and 206 in the control group filled in the questionnaire. There were no statistically significant differences between the groups neither in state nor trait anxiety. Regarding worry about the possibility of something being wrong with the baby and worry about giving birth, there were no statistically significant differences between the groups. The women stated that to see the film increased their worry rather than decreased it. An informational film as additional information to complement written and verbal information about prenatal testing does not appear to increase women's anxiety and worries. However, the informational film may cause worry at the time of viewing which should be taken into consideration.

  13. 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.; Xu, H.; Uerpairojkit, B.

    2016-01-01

    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......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...... 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...

  14. Pre-Analytical Conditions in Non-Invasive Prenatal Testing of Cell-Free Fetal RHD

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch; Jakobsen, Tanja Roien; Rieneck, Klaus

    2013-01-01

    Non-invasive prenatal testing of cell-free fetal DNA (cffDNA) in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD) directs the administration of antenatal anti-D prophylaxis only to women who carry an Rh......D positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based...

  15. A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

    Directory of Open Access Journals (Sweden)

    Joo Wook Ahn

    2014-04-01

    Full Text Available Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs of unclear prognosis that cause parental anxiety.Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n = 342 were tested by chromosomal microarray and only CNVs of established deletion/duplication syndrome regions and any other CNV >3 Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy.Results. Using our prenatal analysis, 23/342 (6.7% samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 CNVs were detected in 44 of these cases (17.7%. None of these additional CNVs were of clear clinical significance.Conclusion. This prenatal chromosomal microarray strategy detected all CNVs of clear prognostic value and did not miss any CNVs of clear clinical significance. This strategy avoided both the problems associated with interpreting CNVs of uncertain prognosis and the parental anxiety that are a result of such findings.

  16. Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

    Science.gov (United States)

    Reiss, Rosemary E; Discenza, Marie; Foster, Judith; Dobson, Lori; Wilkins-Haug, Louise

    2017-05-01

    To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between 1 December 2012 and 31 July 2015. Records of pregnancies positive for SCA were reviewed for ultrasound findings, NIPT indications, and karyotype results on maternal, fetal, and postnatal samples. Other SCA cases presenting during this period regardless of NIPT status were identified from genetic counseling and cytogenetics laboratory logbooks. Noninvasive prenatal testing predicted SCA in 18/2851 patients (0.63%). All had diagnostic testing of fetal or newborn samples. No patients terminated pregnancies on the basis of NIPT. NIPT suggested triple X in five cases, two with elevated NT: all were confirmed on karyotype. Two Klinefelter syndrome cases were also accurately predicted by NIPT. NIPT indicated monosomy X in 11 cases. Only one was a true positive. Ten were false positives, with 46, XX found on fetal or newborn karyotype. Maternal karyotype was mosaic (45, X[4], 46, XX[26]) in one case. Over the same time period, four additional cases of 45, X were confirmed on fetal samples, all with cystic hygromas. One of these had had a false negative NIPT result. The remaining patients pursued only direct testing via CVS or amniocentesis. Sex chromosome aneuploidy was frequently suspected on NIPT. False positive rate for monosomy X was surprisingly high (91%). Prediction of other SCA was more accurate. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. NIPT limitations should be explained in pretest counseling. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  17. Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process.

    Science.gov (United States)

    Murdoch, Blake; Ravitsky, Vardit; Ogbogu, Ubaka; Ali-Khan, Sarah; Bertier, Gabrielle; Birko, Stanislav; Bubela, Tania; De Beer, Jeremy; Dupras, Charles; Ellis, Meika; Granados Moreno, Palmira; Joly, Yann; Kamenova, Kalina; Master, Zubin; Marcon, Alessandro; Paulden, Mike; Rousseau, François; Caulfield, Timothy

    2017-01-01

    Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation. NIPT is often framed as a potential first tier screen that should be offered to all pregnant women, despite concerns over cost-effectiveness. Multiple forces have contributed to a problematic translational environment in Canada, creating pressure towards first tier implementation. Governments have contributed to commercialization pressure by framing the publicly funded research sector as a potential engine of economic growth. Members of industry have an incentive to frame clinical value as beneficial to the broadest possible cohort in order to maximize market size. Many studies of NIPT were directly funded and performed by private industry in laboratories lacking strong independent oversight. Physicians' fear of potential liability for failing to recommend NIPT may further drive widespread uptake. Broad social endorsement, when combined with these translation pressures, could result in the "routinization" of NIPT, thereby adversely affecting women's reproductive autonomy. Policymakers should demand robust independent evidence of clinical and public health utility relevant to their respective jurisdictions before making decisions regarding public funding for NIPT. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  18. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

    Science.gov (United States)

    Skirton, Heather; Goldsmith, Lesley; Chitty, Lyn S

    2015-08-01

    Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy. Data were collected via focus groups or interviews. Participants were aware of the potential for such tests to be viewed as routine and suggested that obtaining written consent and allowing time for consideration is needed to facilitate autonomous choice and informed consent. All participants felt that mothers should be able to request such tests, but fathers who declined carrier testing should be made aware that fetal test results may reveal their status. We suggest that a written record of consent for non-invasive prenatal diagnosis should be used as a standard to help reinforce the serious nature of the test results. Where the father's carrier status could be revealed through fetal testing, he should be made aware of this before the results are available. Health professionals should discuss with the pregnant woman the best way to manage unsought information about the father's carrier status to minimise family disruption.

  19. 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 ...

  20. Prenatal Tests

    Science.gov (United States)

    ... spinal muscular atrophy (also called SMA), thalassemias and hemoglobinopathies. CF is a condition that affects breathing and ... can affect movement, breathing and swallowing. Thalassemias and hemoglobinopathies are blood conditions that affect red blood cells. ...

  1. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

    Directory of Open Access Journals (Sweden)

    Haidar, Hazar

    2016-02-01

    Full Text Available Non-invasive prenatal testing (NIPT using cell-free fetal DNA (cffDNA from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI. This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended and as a diagnostic test (potentially in the future, has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

  2. Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening.

    Science.gov (United States)

    Poon, C F; Tse, W C; Kou, K O; Leung, K Y

    2015-01-01

    To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ² test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.. © 2014 S. Karger AG, Basel

  3. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives

    NARCIS (Netherlands)

    Schendel, R.V. van; Page-Christiaens, G.C.; Beulen, L.; Bilardo, C.M.; Boer, M.A. de; Coumans, A.B.; Faas, B.H.W.; Langen, I.M. van; Lichtenbelt, K.D.; Maarle, M.C. van; Macville, M.V.; Oepkes, D.; Pajkrt, E.; Henneman, L.

    2016-01-01

    OBJECTIVE: To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at

  4. Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples

    Science.gov (United States)

    McCullough, Ron M.; Almasri, Eyad A.; Guan, Xiaojun; Geis, Jennifer A.; Hicks, Susan C.; Mazloom, Amin R.; Deciu, Cosmin; Oeth, Paul; Bombard, Allan T.; Paxton, Bill; Dharajiya, Nilesh; Saldivar, Juan-Sebastian

    2014-01-01

    Objective As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. Study Design The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA–licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. Results NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5%) with 2.61% yielding a positive NIPT result. Conclusion NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the current standard of care

  5. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.

    Directory of Open Access Journals (Sweden)

    Ron M McCullough

    Full Text Available OBJECTIVE: As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. STUDY DESIGN: The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA-licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. RESULTS: NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥ 35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5% with 2.61% yielding a positive NIPT result. CONCLUSION: NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the

  6. Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.

    Science.gov (United States)

    Lee, Da Eun; Lim, Ji Hyae; Kim, Min Hyoung; Park, So Yeon; Ryu, Hyun Mee

    2016-05-01

    Until now, fetal placenta-specific epigenetic markers for noninvasive prenatal testing of fetal trisomy 21 (T21) have been identified based only on differences in tissue-specific epigenetic characteristics between placenta and maternal blood, but these characteristics have not been validated in T21 placenta. We aimed to discover novel epigenetic markers on chromosome 21 that show a hypermethylated pattern in fetal placenta compared with blood, regardless of the presence of T21. We performed a high-resolution tiling array analysis of chromosome 21 using the methylated-CpG binding domain protein-based method. We identified 93 epigenetic regions that showed fetal placenta-specific differential methylation patterns; among these, three regions showed fetal placenta-specific methylation patterns in T21 placenta samples. The methylation patterns of these three regions in the array were confirmed by bisulfite direct sequencing. The three regions were detectable in first-trimester maternal plasma. Moreover, a combination of their methylation ratio achieved high diagnostic accuracy for noninvasive prenatal testing of fetal T21 by further statistical analysis. These three novel regions with fetal placenta-specific differential methylation patterns on chromosome 21 were identified irrespective of the presence of T21. Our findings suggest that epigenetic characteristics of markers according to the presence or absence of T21 should be considered in the development of noninvasive prenatal testing of fetal T21 using fetal placenta-specific epigenetic markers. Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  7. Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.

    Science.gov (United States)

    Hui, Winnie W I; Jiang, Peiyong; Tong, Yu K; Lee, Wing-Shan; Cheng, Yvonne K Y; New, Maria I; Kadir, Rezan A; Chan, K C Allen; Leung, Tak Y; Lo, Y M Dennis; Chiu, Rossa W K

    2017-02-01

    Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex experimental methods or inferential approaches, such as through the analysis of DNA from other affected family members. Recently, microfluidics-based linked-read sequencing technology has become available and allows the direct haplotype phasing of the whole genome rapidly. We explored the feasibility of applying this direct haplotyping technology in noninvasive prenatal testing. We first resolved the haplotypes of parental genomes with the use of linked-read sequencing technology. Then, we identified SNPs within and flanking the genes of interest in maternal plasma DNA by targeted sequencing. Finally, we applied relative haplotype dosage analysis to deduce the mutation inheritance status of the fetus. Haplotype phasing and relative haplotype dosage analysis of 12 out of 13 families were successfully achieved. The mutational status of these 12 fetuses was correctly classified. High-throughput linked-read sequencing followed by maternal plasma-based relative haplotype dosage analysis represents a streamlined approach for noninvasive prenatal testing of inherited single gene diseases. The approach bypasses the need for mutation-specific assays and is not dependent on the availability of DNA from other affected family members. Thus, the approach is universally applicable to pregnancies at risk for the inheritance of a single gene disease. © 2016 American Association for Clinical Chemistry.

  8. Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing.

    Science.gov (United States)

    Qiang, Rong; Cai, Na; Wang, Xiaobin; Wang, Lin; Cui, Ke; Wang, Wei; Wang, Xiang; Li, Xu

    2017-05-01

    The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks. The samples were delivered at -80°C to the certified Shenzhen BGI Clinical Laboratory Center. Sequencing data were analyzed using a proprietary algorithm. Women with positive NIPT results were recommended to receive karyotype analysis and amniotic fluid puncture for further validation. The cases were followed up for 56 days after delivery. All the patients underwent ultrasound examination, and the majority of patients (91.16%) showed normal findings. In contrast, 136 (7.15%) showed ultrasound anomalies. The most common anomaly was echogenic heart focus (n=80), accounting for 4.21% of the patients. Twenty-two cases were classified by the NIPT to be positive for the T21 (n=15), T18 (n=5) and T13 (n=2), respectively, while the others (n=1,879) were classified to be NIPT negative cases. Among these cases, the fetal outcome data were obtained in 1,483 cases, while 396 were lost to follow-up. The majority of cases (75.47%) were normal at birth. Neonatal death was observed in 1 case. Five pregnant women decided termination of pregnancy despite the presence of NIPT negativity. In conclusion, NIPT technique is feasible for the prenatal screening of T18 and T21 with higher sensitivity and specificity compared with conventional methods.

  9. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

    Science.gov (United States)

    Croonen, Ellen A; Nillesen, Willy M; Stuurman, Kyra E; Oudesluijs, Gretel; van de Laar, Ingrid M B M; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H W; van der Burgt, Ineke; Yntema, Helger G

    2013-09-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a diagnostic setting for mutations in (a subset of) the four most commonly mutated NS genes. A de novo mutation in either PTPN11, KRAS or RAF1 was detected in 13 fetuses (17.3%). Ultrasound findings were increased NT, distended jugular lymphatic sacs (JLS), hydrothorax, renal anomalies, polyhydramnios, cystic hygroma, cardiac anomalies, hydrops fetalis and ascites. A second group, consisting of anonymized DNA of 60 other fetuses with sonographic abnormalities, was tested for mutations in 10 NS genes. In this group, five possible pathogenic mutations have been identified (in PTPN11 (n=2), RAF1, BRAF and MAP2K1 (each n=1)). We recommend prenatal testing of PTPN11, KRAS and RAF1 in pregnancies with an increased NT and at least one of the following additional features: polyhydramnios, hydrops fetalis, renal anomalies, distended JLS, hydrothorax, cardiac anomalies, cystic hygroma and ascites. If possible, mutation analysis of BRAF and MAP2K1 should be considered.

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

    Science.gov (United States)

    Manotaya, S; Xu, H; Uerpairojkit, B; Chen, F; Charoenvidhya, D; Liu, H; Petcharaburanin, N; Liu, Y; Tang, S; Wang, X; Dansakul, S; Thomsopa, T; Gao, Y; Zhang, H; Xu, H; Jiang, Hui

    2016-03-01

    The 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. In 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. A total of 4736 participants received the NIPT test, including 2840 high-risk pregnancies, either with advanced maternal age or positive serum biochemical tests, and 1889 low-risk pregnancies without conventional indications; 99.9% (4732/4736) of the participants with a median maternal age of 35 years old received reports, and 1.3% (63/4732) were classified as test positive, including 36 T21, 19 T18, and 8 T13; 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. With stringent protocol, our prospective large-scale multicenter nationwide study demonstrated that NIPT showed excellent performance as screening tests for the detection of fetal T21, T18, and T13 in mixed-risk pregnancies in Thailand. © 2016 John Wiley & Sons, Ltd.

  11. Aneuploidy screening by non-invasive prenatal testing in twin pregnancy.

    Science.gov (United States)

    Fosler, L; Winters, P; Jones, K W; Curnow, K J; Sehnert, A J; Bhatt, S; Platt, L D

    2017-04-01

    To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT was used to screen for the presence of fetal aneuploidy on chromosomes 13, 18, 21, X and Y in all cases, and results were compared with outcomes when known. In Clinical Study A, all 115 samples were classified correctly by NIPT: three cases of trisomy 21 (one fetus affected), one of monochorionic trisomy 18 (both fetuses affected) and 111 euploid. In Clinical Study B, a NIPT result was reported for 479 (98.4%) of the 487 samples. Aneuploidy was detected or suspected in nine (1.9%) cases: seven cases of trisomy 21 detected, one case of trisomy 21 suspected and one case with trisomy 21 detected and trisomy 18 suspected. Information on aneuploidy outcome was available for 171 (35.7%) cases in Clinical Study B. Of the nine cases with aneuploidy detected or suspected, six were confirmed to be a true positive in at least one twin based on karyotype or birth outcome and two were suspected to be concordant based on ultrasound findings; the one known discordant result was for the aneuploidy suspected case. No false negatives were reported. NIPT performed well in the detection of trisomy 21 in twin pregnancy, with a combined false-positive frequency for trisomies 13, 18 and 21 of 0% for Clinical Study A and 0.2% for Clinical Study B. © 2016 Illumina. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. © 2016 Illumina. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

  12. Noninvasive prenatal testing in routine clinical practice for a high-risk population

    Science.gov (United States)

    Qi, Guijie; Yi, Jianping; Han, Baosheng; Liu, Heng; Guo, Wanru; Shi, Chong; Yin, Lirong

    2016-01-01

    Abstract This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital. NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups. Follow-up data were obtained from the participants who underwent NIPT from 2013 to 2014. A total of 7223 patients (3018 and 4205 individuals before and after NIPT) were eligible for analysis. After NIPT was introduced in 2013 to 2014, 727 patients (17.3%) underwent invasive testing, 2828 preferred NIPT (67.3%), and 650 declined to undergo further testing (15.5%). A total of 34 cases of trisomies 21, 18, and 13 (0.8%) were found. In 2012 to 2013, 565 patients (18.7%) underwent invasive testing and 2453 declined to undergo further testing (81.3%). A total of 7 cases of trisomies 21, 18, and 13 were documented (0.2%). Of these cases, 24 were found from NIPT and 10 cases were found from invasive testing. The number of participants who declined to undergo further testing significantly decreased after NIPT was introduced (81.3% vs. 15.5%, P NIPT for trisomies 21, 18, and 13 were 100% and 99.9%, respectively. The detection rates of NIPT for trisomies 21, 18, and 13 also significantly increased (0.2% vs. 0.8%, P testing remained unchanged (18.7% vs. 17.3%, P = 0.12). The positive predictive values of NIPT for trisomies 21, 18, and 13 were 100%, 83.3%, and 50.0%, respectively. The false positive rates of NIPT were 0% and 0.04%. With NIPT implementation in clinical practice, the rate of declining a follow-up test among high-risk women was decreased and the detection

  13. Trait anxiety, information modality, and responses to communications about prenatal genetic testing.

    Science.gov (United States)

    Muller, Cécile; Cameron, Linda D

    2014-10-01

    Decisions to undergo invasive prenatal diagnostic procedures can be anxiety provoking. Individuals receive information about these procedures in one of three modalities: written text, audio (verbal description), or video. We examined whether modality influences emotional responses and testing decisions, and whether trait anxiety, a disposition linked with heightened sensitivity to threatening information, moderates these effects. New Zealand adults (N = 176) completed a trait anxiety measure before random allocation to view a text, audio, or video message about amniocentesis and chorionic villus sampling. Participants completed measures of child related worry, anticipated emotional distress, anticipated coping efficacy, perceived likelihood of miscarriage, and testing interest. High-anxious individuals reported greater distress and lower coping efficacy in response to the video message compared to the audio message. They also reported greater miscarriage likelihood in response to the video message compared to the text message. These findings suggest that use of video, assumed to be most informative for educating patients, could induce greater distress about prenatal testing in individuals prone to anxiety.

  14. What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?

    Science.gov (United States)

    van Schendel, Rachèl V; Kater-Kuipers, Adriana; van Vliet-Lachotzki, Elsbeth H; Dondorp, Wybo J; Cornel, Martina C; Henneman, Lidewij

    2017-06-01

    This study explores the attitudes of parents of children with Down syndrome towards non-invasive prenatal testing (NIPT) and widening the scope of prenatal screening. Three focus groups (n = 16) and eleven individual interviews with Dutch parents (and two relatives) of children with Down syndrome were conducted. Safety, accuracy and earlier testing were seen as the advantages of NIPT. Some participants were critical about the practice of screening for Down syndrome, but acknowledged that NIPT enables people to know whether the fetus is affected and to prepare without risking miscarriage. Many feared uncritical use of NIPT and more abortions for Down syndrome. Concerns included the consequences for the acceptance of and facilities for children with Down syndrome, resulting in more people deciding to screen. Participants stressed the importance of good counseling and balanced, accurate information about Down syndrome. Testing for more disorders might divert the focus away from Down syndrome, but participants worried about "where to draw the line". They also feared a loss of diversity in society. Findings show that, while parents acknowledge that NIPT offers a better and safer option to know whether the fetus is affected, they also have concerns about NIPT's impact on the acceptance and care of children with Down syndrome.

  15. 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|info:eu-repo/dai/nl/321773314; Lichtenbelt, Klaske|info:eu-repo/dai/nl/30481816X; 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

  16. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis

    OpenAIRE

    Neyt, Mattias; Hulstaert, Frank; Gyselaers, Wilfried

    2014-01-01

    Background The first- and second-trimester screening for trisomy 21 (T21) are reimbursed for all pregnant women in Belgium. Using a cut-off risk of 1:300 for T21, about 5% of all pregnant women are referred for definitive prenatal diagnosis using an invasive test, at a sensitivity of (only) 72.5%. The sensitivity and specificity of the non-invasive prenatal test (NIPT) are over 99% but come at a cost of €460 (£373) per test. The objective is to estimate the consequences of introducing NIPT fo...

  17. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis

    OpenAIRE

    Neyt, Mattias; Hulstaert, Frank; Gyselaers, Wilfried

    2014-01-01

    Background: The first- and second-trimester screening for trisomy 21 (T21) are reimbursed for all pregnant women in Belgium. Using a cut-off risk of 1: 300 for T21, about 5% of all pregnant women are referred for definitive prenatal diagnosis using an invasive test, at a sensitivity of (only) 72.5%. The sensitivity and specificity of the non-invasive prenatal test (NIPT) are over 99% but come at a cost of (sic)460 (373) pound per test. The objective is to estimate the consequences of introduc...

  18. Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

    Directory of Open Access Journals (Sweden)

    Mary E. Norton

    2014-01-01

    Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

  19. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants.

    Science.gov (United States)

    Lefkowitz, Roy B; Tynan, John A; Liu, Tong; Wu, Yijin; Mazloom, Amin R; Almasri, Eyad; Hogg, Grant; Angkachatchai, Vach; Zhao, Chen; Grosu, Daniel S; McLennan, Graham; Ehrich, Mathias

    2016-08-01

    Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Here we report the clinical validation of a novel noninvasive prenatal test (NIPT) designed to detect genomewide gains and losses of chromosomal material ≥7 Mb and losses associated with specific deletions NIPT for detection of genomewide abnormalities. This retrospective, blinded study included maternal plasma collected from 1222 study subjects with pregnancies at increased risk for fetal chromosomal abnormalities that were assessed for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), fetal sex, genomewide copy number variants (CNVs) ≥7 Mb, and select deletions test results with findings from G-band karyotyping, microarray data, or high coverage sequencing. Clinical sensitivity within this study was determined to be 100% for T21 (95% confidence interval [CI], 94.6-100%), T18 (95% CI, 84.4-100%), T13 (95% CI, 74.7-100%), and SCAs (95% CI, 84-100%), and 97.7% for genomewide CNVs (95% CI, 86.2-99.9%). Clinical specificity within this study was determined to be 100% for T21 (95% CI, 99.6-100%), T18 (95% CI, 99.6-100%), and T13 (95% CI, 99.6-100%), and 99.9% for SCAs and CNVs (95% CI, 99.4-100% for both). Fetal sex classification had an accuracy of 99.6% (95% CI, 98.9-99.8%). This study has demonstrated that genomewide NIPT for fetal chromosomal abnormalities can provide high resolution, sensitive, and specific detection of a wide range of subchromosomal and whole chromosomal abnormalities that were previously only detectable by invasive karyotype analysis. In some instances, this NIPT also provided additional clarification about the origin of genetic material that had not been identified by invasive karyotype analysis. Copyright © 2016 Sequenom, Inc. Published by Elsevier Inc. All rights reserved.

  20. Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

    Directory of Open Access Journals (Sweden)

    Egić Amira

    2011-01-01

    Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

  1. Obstetric professionals? perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications

    OpenAIRE

    Ngan, Olivia Miu Yung; Yi, Huso; Wong, Samuel Yeung Shan; Sahota, Daljit; Ahmed, Shenaz

    2017-01-01

    Background While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. Methods A cross-sectional survey among 327 obstetric profe...

  2. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center

    DEFF Research Database (Denmark)

    Tan, YueQiu; Gao, Ya; Lin, Ge

    2016-01-01

    Objective: The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART). Method: In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT...

  3. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. : Part I-clinical impact

    NARCIS (Netherlands)

    Oepkes, Dick; Page-Christiaens, G. C. (Lieve); Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Catia M.; Boon, Elles M. J.; Schuring-Blom, G. Heleen; Coumans, Audrey B. C.; Faas, Brigitte H.; Galjaard, Robert-Jan H.; Go, Attie T.; Henneman, Lidewij; Macville, Merryn V. E.; Pajkrt, Eva; Suijkerbuijk, Ron F.; Huijsdens-van Amsterdam, Karin; Van Opstal, Diane; Verweij, E. J. (Joanne); Weiss, Marjan M.; Sistermans, Erik A.

    2016-01-01

    Objective To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method Women with elevated risk based on first trimester combined testing (FCT >= 1: 200) or

  4. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

    NARCIS (Netherlands)

    Oepkes, D.; Page-Christiaens, G.C.; Bax, C.J.; Bekker, M.N.; Bilardo, C.M.; Boon, E.M.; Schuring-Blom, G.H.; Coumans, A.B.; Faas, B.H.W.; Galjaard, R.H.; Go, A.T.; Henneman, L.; Macville, M.V.; Pajkrt, E.; Suijkerbuijk, R.F.; Amsterdam, K. Huijsdens-van; Opstal, D. Van; Verweij, E.J.; Weiss, M.M.; Sistermans, E.A.

    2016-01-01

    OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT >/=

  5. 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

  6. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact

    NARCIS (Netherlands)

    D. Oepkes; Page-Christiaens, G.C.L. (G. C. Lieve); C.J. Bax (Caroline); M.N. Bekker (Mireille); C.M. Bilardo (Caterina Maddalena); E.M.J. Boon (Elles ); G.H. Schuring-Blom (Heleen); A. Coumans (Audrey); B.H.W. Faas (Brigitte); R-J.H. Galjaard (Robert-Jan); A. Go (Attie); L. Henneman (Lidewij); M.V.E. Macville (Merryn); E. Pajkrt (Eva); R. Suijkerbuijk (Ron); Huijsdens-van Amsterdam, K. (Karin); A.R.M. van Opstal (Diane); Verweij, E.J.J. (E. J. Joanne); Weiss, M.M. (Marjan M.); E.A. Sistermans (Erik)

    2016-01-01

    textabstractObjective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method: Women with elevated risk based on first trimester combined testing (FCT

  7. The value and role of non-invasive prenatal testing in a select South African population.

    Science.gov (United States)

    Mnyani, C N; Nicolaou, E; Bister, S

    2016-09-09

    Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening.  To determine the value and role of NIPT in a select South African (SA) population.  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA. Patients had NIPT after either combined first-trimester screening (CFTS) or a second-trimester ultrasound scan. Data were collected on details of the first- and/or second-trimester screening, results of the NIPT, invasive tests done, decisions made in the event of abnormal results, and pregnancy outcomes.  Overall, 3 473 first- and second-trimester fetal assessments were done at the centre during the study period, and 2.3% of patients (n=82) elected to have NIPT. The majority of these individuals elected to have NIPT on the basis of positive findings on CFTS, or markers of aneuploidy detected on a second-trimester ultrasound scan. Of the tests done, 97.6% produced results. Of those with no results, one did not meet quality metrics and the other had a low fetal fraction of cfDNA. There were two abnormal NIPT results, one indicating a high risk of trisomy 13 and the other a triploidy. Patients who screened negative elected not to have an invasive test.  The value of NIPT in this study was that it made it possible to avoid a number of invasive tests. NIPT had a role in contingency screening.

  8. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

    Science.gov (United States)

    Dommering, Charlotte J; Henneman, Lidewij; van der Hout, Annemarie H; Jonker, Marianne A; Tops, Carli M J; van den Ouweland, Ans M W; van der Luijt, Rob B; Mensenkamp, Arjen R; Hogervorst, Frans B L; Redeker, Egbert J W; de Die-Smulders, Christine E M; Moll, Annette C; Meijers-Heijboer, Hanne

    2017-04-01

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (cancer syndromes PND started 10-15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.

  9. Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population.

    Science.gov (United States)

    Li, Wai-Hou; Wang, Peng-Hui; Chuang, Chi-Mu; Chang, Yi-Wen; Yang, Ming-Jie; Chen, Chih-Yao; Chao, Kuan-Chong; Yen, Ming-Shyen

    2015-04-01

    This study assesses the performance of noninvasive prenatal testing (NIPT) for fetal aneuploidies in a mixed risk factors pregnancy population. Data review of 169 pregnant women undergoing prenatal aneuploidy screening in a single tertiary medical center was conducted. Indications included maternal anxiety, advanced maternal age, abnormal nuchal translucency, and high/moderate risk of first trimester Down syndrome screening. Multifetal pregnancies and patients receiving in vitro fertilization were also enrolled for analysis. A total of 169 patients were enrolled in this study during a time period from July 2012 to June 2014. For patients' ≥ 34 years, anxiety about amniocentesis was the most common reason for patients selecting NIPT for fetal aneuploidy screening, with 107 (88.4%) patients choosing NIPT for this reason. Among the total patient population, two patients showed a positive result from NIPT. One patient displayed 47, XXY, which was confirmed to be a false-positive result. The other patient displayed trisomy 18, which was confirmed by an amniotic cell culture. The sensitivity for NIPT is 100% with the specificity 99.4%. NIPT for fetal aneuploidy in a mixed risk factors pregnancy population showed high accuracy. NIPT applied to the low risk population might reassure the anxious family. Copyright © 2015. Published by Elsevier B.V.

  10. Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Xianlu Laura Peng

    2017-02-01

    Full Text Available The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT. Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have been rapidly transforming clinical practices nowadays. In such approaches, the fetal DNA fraction is a pivotal parameter governing the overall performance and guaranteeing the proper clinical interpretation of testing results. In this review, we describe the current bioinformatics approaches developed for estimating the fetal DNA fraction and discuss their pros and cons.

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

    Science.gov (United States)

    Santalahti, P; Hemminki, E; Aro, A R; Helenius, H; Ryynänen, M

    1999-01-01

    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. Questionnaires were given to pregnant women visiting maternity centres in two Finnish towns in which serum screening was offered (n = 1,035) and in one town where midtrimester ultrasound screening was offered (n = 497). Response rates to the questionnaires were 88 and 85%, respectively. Other questionnaires asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented as a routine procedure. Most women (92%) underwent serum screening and most (86%) found the decision to participate or not easy. In almost every aspect of presentation and participation studied, serum and ultrasound screening differed from each other. 85% of respondents to ultrasound screening answered that it was offered as a routine procedure. Close acquaintance with a person with congenital disability was negatively associated with participation in serum screening and with the intention to terminate pregnancy in case of a detected disability. 27% of women in the serum screening survey and 22% in the ultrasound survey declared that they would have declined pregnancy termination if a fetal disorder had been detected. However, according to the hospitals' data, only 13% of pregnancies with a serious fetal disorder detected were continued. All prenatal screening tests, including ultrasound examinations, require an adequate process of informed consent. Because the aim of such tests is to detect fetal malformations and syndromes, health care professionals should discuss the implications with women before they

  12. Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy.

    Science.gov (United States)

    Michaelson-Cohen, Rachel; Gershoni-Baruch, Ruth; Sharoni, Reuven; Shochat, Mordechai; Yaron, Yuval; Singer, Amihood

    2014-01-01

    Non-invasive prenatal testing (NIPT) of cell-free fetal DNA in maternal plasma is a novel approach, designed for detecting common aneuploidies in the fetus. The Israeli Society of Medical Geneticists (ISMG) supports its use according to the guidelines stated herein. The clinical data collected thus far indicate that NIPT is highly sensitive in detecting trisomies 21 and 18, and fairly sensitive in detecting trisomy 13 and sex chromosome aneuploidies. Because false-positive results may occur, an abnormal result must be validated by invasive prenatal testing. At this juncture, NIPT does not replace existing prenatal screening tests for Down syndrome, as these are relatively inexpensive and cost-effective. Nonetheless, NIPT may be offered to women considered to be at high risk for fetal chromosomal abnormalities as early as 10 weeks of gestation. The ISMG states that NIPT should be an informed patient choice, and that pretest counseling regarding the limitations of NIPT is warranted. Women at high risk for genetic disorders not detected by NIPT should be referred for genetic counseling. A normal test result may be conveyed by a relevant healthcare provider, while an abnormal result should be discussed during a formal genetic consultation session.

  13. Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing

    NARCIS (Netherlands)

    Engels, M.A.M.J.; Bhola, S.L.; Twisk, J.W.R.; Blankenstein, M.A.; van Vugt, J.M.G.

    2014-01-01

    Objective To study the effect of different government prenatal screening (PNS) policies on the uptake of PNS and prenatal diagnostic testing (PND) over the periods 2001-2003 (PNS on request), 2004-2006 (permission to offer the first-trimester combined test (FCT) to women of advanced maternal age

  14. Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing

    NARCIS (Netherlands)

    Engels, M.A.J.; Bhola, S.L.; Twisk, J.W.R.; Blankenstein, M.A.; Vugt, J.M.G. van

    2014-01-01

    OBJECTIVE: To study the effect of different government prenatal screening (PNS) policies on the uptake of PNS and prenatal diagnostic testing (PND) over the periods 2001-2003 (PNS on request), 2004-2006 (permission to offer the first-trimester combined test (FCT) to women of advanced maternal age

  15. 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.

  16. 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

  17. Kikiskawâwasow - prenatal healthcare provider perceptions of effective care for First Nations women: an ethnographic community-based participatory research study.

    Science.gov (United States)

    Oster, Richard T; Bruno, Grant; Montour, Margaret; Roasting, Matilda; Lightning, Rick; Rain, Patricia; Graham, Bonny; Mayan, Maria J; Toth, Ellen L; Bell, Rhonda C

    2016-08-11

    Pregnant Indigenous women suffer a disproportionate burden of risk and adverse outcomes relative to non-Indigenous women. Although there has been a call for improved prenatal care, examples are scarce. Therefore, we explored the characteristics of effective care with First Nations women from the perspective of prenatal healthcare providers (HCPs). We conducted an ethnographic community-based participatory research study in collaboration with a large Cree First Nations community in Alberta, Canada. We carried out semi-structured interviews with 12 prenatal healthcare providers (HCPs) that were recorded, transcribed, and subjected to qualitative content analysis. According to the participants, relationships and trust, cultural understanding, and context-specific care were key features of effective prenatal care and challenge the typical healthcare model. HCPs that are able to foster sincere, non-judgmental, and enjoyable interactions with patients may be more effective in treating pregnant First Nations women, and better able to express empathy and understanding. Ongoing HCP cultural understanding specific to the community served is crucial to trusting relationships, and arises from real experiences and learning from patients over and above relying only on formal cultural sensitivity training. Consequently, HCPs report being better able to adapt a more flexible, all-inclusive, and accessible approach that meets specific needs of patients. Aligned with the recommendations of the Truth and Reconciliation Commission of Canada, improving prenatal care for First Nations women needs to allow for genuine relationship building with patients, with enhanced and authentic cultural understanding by HCPs, and care approaches tailored to women's needs, culture, and context.

  18. Quality of prenatal care questionnaire: psychometric testing in an Australia population.

    Science.gov (United States)

    Sword, Wendy; Heaman, Maureen; Biro, Mary Anne; Homer, Caroline; Yelland, Jane; Akhtar-Danesh, Noori; Bradford-Janke, Amanda

    2015-09-10

    The quality of antenatal care is recognized as critical to the effectiveness of care in optimizing maternal and child health outcomes. However, research has been hindered by the lack of a theoretically-grounded and psychometrically sound instrument to assess the quality of antenatal care. In response to this need, the 46-item Quality of Prenatal Care Questionnaire (QPCQ) was developed and tested in a Canadian context. The objective of this study was to validate the QPCQ and to establish its internal consistency reliability in an Australian population. Study participants were recruited from two public maternity services in two Australian states: Monash Health, Victoria and Wollongong Hospital, New South Wales. Women were eligible to participate if they had given birth to a single live infant, were 18 years or older, had at least three antenatal visits during the pregnancy, and could speak, read and write English. Study questionnaires were completed in hospital. A confirmatory factor analysis (CFA) was conducted. Construct validity, including convergent validity, was further assessed against existing questionnaires: the Patient Expectations and Satisfaction with Prenatal Care (PESPC) and the Prenatal Interpersonal Processes of Care (PIPC). Internal consistency reliability of the QPCQ and each of its six subscales was assessed using Cronbach's alpha. Two hundred and ninety-nine women participated in the study. CFA verified and confirmed the six factors (subscales) of the QPCQ. A hypothesis-testing approach and an assessment of convergent validity further supported construct validity of the instrument. The QPCQ had acceptable internal consistency reliability (Cronbach's alpha = 0.97), as did each of the six factors (Cronbach's alpha = 0.74 to 0.95). The QPCQ is a valid and reliable self-report measure of antenatal care quality. This instrument fills a scientific gap and can be used in research to examine relationships between the quality of antenatal care and

  19. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists.

    Science.gov (United States)

    Haymon, Lori; Simi, Eve; Moyer, Kelly; Aufox, Sharon; Ouyang, David W

    2014-05-01

    To assess the clinical implementation of non-invasive prenatal testing (NIPT) among maternal-fetal medicine (MFM) specialists. Practicing MFMs were invited by email to complete questionnaires via SurveyMonkey©. Of 278 respondents, 56% were male, 48% practiced in academic centers, and 94% currently offer NIPT. NIPT is most often being offered 'to specific patients meeting certain criteria' (59.2%), for indications of advanced maternal age (87.5%), abnormal screen results (94.9%), abnormal ultrasound findings (90.2%), and 'when a high-risk patient declines invasive diagnostic testing' (73.7%). Thirteen percent indicated NIPT is being offered as a diagnostic test. Regardless of whether NIPT was presented as a diagnostic or screening test, 65.3% of MFMs estimate 'some' of their patients have undergone invasive testing for confirmation. Responses were mixed concerning appropriate populations and diagnostic capabilities of NIPT, but MFMs generally agree NIPT should be confirmed with invasive testing and will replace conventional screening procedures. Assessment indicates NIPT is being adopted by MFMs, largely in accord with recently published American College of Obstetricians and Gynecologists and the Society for MFM guidelines. Cost and test performance remain factors for not adopting NIPT. Further research on clinical management based on NIPT results and patient understanding of NIPT results is suggested. © 2013 John Wiley & Sons, Ltd.

  20. Open source non-invasive prenatal testing platform and its performance in a public health laboratory

    DEFF Research Database (Denmark)

    Johansen, Peter; Richter, Stine R; Balslev-Harder, Marie

    2016-01-01

    : The pipeline correctly detected 27/27 trisomy 21, 4/4 trisomy 18, and 3/3 trisomy 13 fetuses. Neither false negatives nor false positives (chromosomes 13, 18, and 21) were observed in our validation dataset. Fetal sex was identified correctly in all but one triploid fetus (172/173). SeqFF showed a strong...... correlation (R(2)  = 0.72) to Y-chromosomal content of the male fetus samples. DISCUSSION: We have implemented NIPT into Danish health care using published open source scripts for autosomal aneuploidy detection and fetal DNA fraction estimation showing excellent false negative and false positive rates. Seq......OBJECTIVE: The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. METHODS: Plasma-derived DNA from a total of 375...

  1. Development and testing of the Preeclampsia Prenatal Symptom-Monitoring Checklist (PPSMC).

    Science.gov (United States)

    Black, Kathleen D; Morin, Karen H

    2014-01-01

    Preeclampsia, a common disorder of unknown origin, presents with signs and symptoms that can be subtle, making assessment and intervention challenging. The purpose of this study was to refine the psychometric properties of an instrument designed to assess a comprehensive range of preeclampsia symptoms. Testing of the Preeclampsia Prenatal Symptom-Monitoring Scale (PPSMC) was accomplished through a retrospective, correlational, and comparative study of 100 postpartum women with preeclampsia and gestational hypertension. The initial 17-item Cronbach's alpha was .73; reliability of the current 11-item PPSMC increased to .77. Content validity index for the PPSMC (17 items) was .88; for the PPSMC (11 items), .93. Exploratory factor analysis, known group comparisons, and predictive validity lend beginning support of the instrument's construct validity. This instrument may be useful in examining in greater detail the symptomatology of women with preeclampsia in practice and research settings.

  2. Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results.

    Science.gov (United States)

    Lo, Tsz-Kin; Chan, Kelvin Yuen-Kwong; Kan, Anita Sik-Yau; So, Po-Lam; Kong, Choi-Wah; Mak, Shui-Lam; Lee, Chung-Nin

    2017-09-19

    In this first Asian study, the decision outcomes (decision conflict, decision regret, and anxiety) of 262 pregnant women offered noninvasive prenatal test (NIPT) for high-risk Down screening results were assessed. Decision conflict was experienced by 3.5% and level of decisional regret low (mean score 15.7, 95%CI 13.2-18.3). All 13 cases of decisional regret were NIPT acceptors. Elevated anxiety was experienced by 55.9% at the time of decision making about NIPT and persistent in 30.3%. Insufficient knowledge about NIPT was associated with elevated anxiety at decision making (p = .011) and with decisional regret (p = .016). Decisional regret was associated with prolonged anxiety (p = .010).

  3. Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

    NARCIS (Netherlands)

    van Schendel, Rachèl V.; Page-Christiaens, G. C.M.Lieve; Beulen, Lean; Bilardo, Caterina M.; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H W; van Langen, Irene M.; Lichtenbelt, Klaske D.; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2017-01-01

    Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated

  4. Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21

    Science.gov (United States)

    2014-01-01

    Background Non-invasive prenatal testing of trisomy 21 (T21) is being actively investigated using fetal-specific epigenetic markers (EPs) that are present in maternal plasma. Recently, 12 EPs on chromosome 21 were identified based on tissue-specific epigenetic characteristics between placenta and blood, and demonstrated excellent clinical performance in the non-invasive detection of fetal T21. However, the disease-specific epigenetic characteristics of the EPs have not been established. Therefore, we validated the disease-specific epigenetic characteristics of these EPs for use in non-invasive detection of fetal T21. Methods We performed a high-resolution tiling array analysis of human chromosome 21 using a methyl-CpG binding domain-based protein (MBD) method with whole blood samples from non-pregnant normal women, whole blood samples from pregnant normal women, placenta samples of normal fetuses, and placenta samples of T21 fetuses. Tiling array results were validated by bisulfite direct sequencing and qPCR. Results Among 12 EPs, only four EPs were confirmed to be hypermethylated in normal placenta and hypomethylated in blood. One of these four showed a severe discrepancy in the methylation patterns of T21 placenta samples, and another was located within a region of copy number variations. Thus, two EPs were confirmed to be potential fetal-specific markers based on their disease-specific epigenetic characteristics. The array results of these EPs were consisted with the results obtained by bisulfite direct sequencing and qPCR. Moreover, the two EPs were detected in maternal plasma. Conclusions We validated that two EPs have the potential to be fetal-specific EPs which is consistent with their disease-specific epigenetic characteristics. The findings of this study suggest that disease-specific epigenetic characteristics should be considered in the development of fetal-specific EPs for non-invasive prenatal testing of T21. PMID:24397966

  5. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).

    Science.gov (United States)

    Cherry, Athena M; Akkari, Yassmine M; Barr, Kimberly M; Kearney, Hutton M; Rose, Nancy C; South, Sarah T; Tepperberg, James H; Meck, Jeanne M

    2017-08-01

    Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with this Clinical Laboratory Practice Resource. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Noninvasive prenatal screening (NIPS) using cell-free DNA has been rapidly adopted into prenatal care. Since NIPS is a screening test, diagnostic testing is recommended to confirm all cases of screen-positive NIPS results. For cytogenetics laboratories performing confirmatory testing on prenatal diagnostic samples, a standardized testing algorithm is needed to ensure that the appropriate testing takes place. This algorithm includes diagnostic testing by either chorionic villi sampling or amniocentesis samples and encompasses chromosome analysis, fluorescence in situ hybridization, and chromosomal microarray.

  6. Choosing offspring: prenatal genetic testing for thalassaemia and the production of a ‘saviour sibling’ in China

    NARCIS (Netherlands)

    Sui, S.

    2010-01-01

    This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic

  7. The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis

    NARCIS (Netherlands)

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

    2014-01-01

    OBJECTIVE: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has been developed for the detection of fetal aneuploidy. Clinical trials have shown high sensitivity and specificity for trisomy 21 (T21) in both high-risk and average-risk populations. Although its great

  8. Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions

    NARCIS (Netherlands)

    van Schendel, Rachèl V.; van El, Carla G.; Pajkrt, Eva; Henneman, Lidewij; Cornel, Martina C.

    2017-01-01

    Background: Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of

  9. Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations

    NARCIS (Netherlands)

    Neveling, K.; Thung, G.W.D.T.; Beulen, L.; Rens-Buijsman, W. van; Gomes, I.; Heuvel, S. van den; Mieloo, H.; Derks-Prinsen, I.; Kater-Baats, E.; Faas, B.H.W.

    2016-01-01

    OBJECTIVE: To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS: A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500

  10. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.

    Science.gov (United States)

    Oepkes, Dick; Page-Christiaens, G C Lieve; Bax, Caroline J; Bekker, Mireille N; Bilardo, Catia M; Boon, Elles M J; Schuring-Blom, G Heleen; Coumans, Audrey B C; Faas, Brigitte H; Galjaard, Robert-Jan H; Go, Attie T; Henneman, Lidewij; Macville, Merryn V E; Pajkrt, Eva; Suijkerbuijk, Ron F; Huijsdens-van Amsterdam, Karin; Van Opstal, Diane; Verweij, E J Joanne; Weiss, Marjan M; Sistermans, Erik A

    2016-12-01

    To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  11. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

    NARCIS (Netherlands)

    Dommering, Charlotte J.; Henneman, Lidewij; van der Hout, Annemarie H.; Jonker, Marianne A.; Tops, Carli M. J.; van den Ouweland, Ans M. W.; van der Luijt, Rob B.; Mensenkamp, Arjen R.; Hogervorst, Frans B. L.; Redeker, Egbert J. W.; de Die-Smulders, Christine E. M.; Moll, Annette C.; Meijers-Heijboer, Hanne

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands.

  12. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

    NARCIS (Netherlands)

    C.J. Dommering (Charlotte); L. Henneman (Lidewij); A.H. van der Hout (Annemarie); M.A. Jonker (Marianne); C. Tops (Carli); A.M.W. van den Ouweland (Ans); R.B. van der Luijt (Rob); Mensenkamp, A.R. (Arjen R.); F.B.L. Hogervorst (Frans); E.J.W. Redeker (Egbert); C. de Die-Smulders (Christine); A.C. Moll (Annette); E.J. Meijers-Heijboer (Hanne)

    2017-01-01

    textabstractSince the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the

  13. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

    NARCIS (Netherlands)

    Dommering, C.J.; Henneman, L.; Hout, A.H. van der; Jonker, M.A.; Tops, C.M.; Ouweland, A.M. van den; Luijt, R.B. van der; Mensenkamp, A.R.; Hogervorst, F.B.; Redeker, E.J.; Die-Smulders, C.E.M. de; Moll, A.C.; Meijers-Heijboer, H.

    2017-01-01

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands.

  14. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies.

    Science.gov (United States)

    Huang, Xuan; Zheng, Jing; Chen, Min; Zhao, Yangyu; Zhang, Chunlei; Liu, Lifu; Xie, Weiwei; Shi, Shuqiong; Wei, Yuan; Lei, Dongzhu; Xu, Chenming; Wu, Qichang; Guo, Xiaoling; Shi, Xiaomei; Zhou, Yi; Liu, Qiufang; Gao, Ya; Jiang, Fuman; Zhang, Hongyun; Su, Fengxia; Ge, Huijuan; Li, Xuchao; Pan, Xiaoyu; Chen, Shengpei; Chen, Fang; Fang, Qun; Jiang, Hui; Lau, Tze Kin; Wang, Wei

    2014-04-01

    The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies. A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals. Maternal plasma DNA sequencing was performed to detect trisomies 21 and 18. The fetal karyotype was used as gold standard to estimate the sensitivity and specificity of sequencing-based noninvasive prenatal test. There were nine cases of trisomy 21 and two cases of trisomy 18 confirmed by karyotyping. Plasma DNA sequencing correctly identified nine cases of trisomy 21 and one case of trisomy 18. The discordant case of trisomy 18 was an unusual case of monozygotic twin with discordant fetal karyotype (one normal and the other trisomy 18). The sensitivity and specificity of maternal plasma DNA sequencing for fetal trisomy 21 were both 100% and for fetal trisomy 18 were 50% and 100%, respectively. Our study further supported that sequencing-based noninvasive prenatal testing of trisomy 21 in twin pregnancies could be achieved with a high accuracy, which could effectively avoid almost 95% of invasive prenatal diagnosis procedures. © 2013 John Wiley & Sons, Ltd.

  15. Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT in a Swedish Cohort of 1,003 Pregnant Women.

    Directory of Open Access Journals (Sweden)

    Ellika Sahlin

    Full Text Available The clinical utilization of non-invasive prenatal testing (NIPT for identification of fetal aneuploidies is expanding worldwide. The aim of this study was to gain an increased understanding of pregnant women's awareness, attitudes, preferences for risk information and decision-making concerning prenatal examinations with emphasis on NIPT, before its introduction into Swedish healthcare.Pregnant women were recruited to fill in a questionnaire, including multiple-choice questions and Likert scales, at nine maternity clinics located in different areas of Stockholm, Sweden.In total, 1,003 women participated in the study (86% consent rate. The vast majority (90.7% considered examinations aiming to detect fetal abnormalities to be good. Regarding NIPT, 59.8% stated that they had heard about the method previously, yet 74.0% would like to use the test if available. The main factor affecting the women's decision to undergo prenatal chromosomal screening was worry about the baby's health (82.5%, followed by the urge to have as much information as possible about the fetus (54.5%. Most women (79.9% preferred to receive NIPT information orally.The overwhelming majority of a cohort of 1,003 pregnant women considered prenatal examinations good. Moreover, the majority had a positive attitude towards NIPT and would like to use the test if available.

  16. Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

    Science.gov (United States)

    Sahlin, Ellika; Nordenskjöld, Magnus; Gustavsson, Peter; Wincent, Josephine; Georgsson, Susanne; Iwarsson, Erik

    2016-01-01

    The clinical utilization of non-invasive prenatal testing (NIPT) for identification of fetal aneuploidies is expanding worldwide. The aim of this study was to gain an increased understanding of pregnant women's awareness, attitudes, preferences for risk information and decision-making concerning prenatal examinations with emphasis on NIPT, before its introduction into Swedish healthcare. Pregnant women were recruited to fill in a questionnaire, including multiple-choice questions and Likert scales, at nine maternity clinics located in different areas of Stockholm, Sweden. In total, 1,003 women participated in the study (86% consent rate). The vast majority (90.7%) considered examinations aiming to detect fetal abnormalities to be good. Regarding NIPT, 59.8% stated that they had heard about the method previously, yet 74.0% would like to use the test if available. The main factor affecting the women's decision to undergo prenatal chromosomal screening was worry about the baby's health (82.5%), followed by the urge to have as much information as possible about the fetus (54.5%). Most women (79.9%) preferred to receive NIPT information orally. The overwhelming majority of a cohort of 1,003 pregnant women considered prenatal examinations good. Moreover, the majority had a positive attitude towards NIPT and would like to use the test if available.

  17. Non-invasive prenatal testing: a review of international implementation and challenges

    Directory of Open Access Journals (Sweden)

    Allyse M

    2015-01-01

    Full Text Available Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & Society, Duke University, Durham, NC, USA, 3Trinity College of Arts and Sciences, Duke University, Durham, NC, USA; 4Duke Global Health Institute, Duke University, Durham, NC, USA Abstract: Noninvasive prenatal genetic testing (NIPT is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate and specificity (true negative rate make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have

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

    OpenAIRE

    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

    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 results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores d...

  19. Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant?

    Science.gov (United States)

    Colmant, Claire; Morin-Surroca, Michèle; Fuchs, Florent; Fernandez, Hervé; Senat, Marie-Victoire

    2013-12-01

    Early prenatal diagnosis of fetal sex is necessary to optimize pregnancy management in families known to be at risk of some heritable disorders. The demonstration of cell-free fetal DNA (cffDNA) in the mother's blood has made it possible to identify Y chromosome sequences in maternal blood and to determine fetal sex noninvasively, during the first trimester. This procedure can significantly reduce the number of invasive procedures for women with fetuses at risk of sex-linked diseases and optimize the management of these pregnancies. Fetal sex can be diagnosed by ultrasound with the same sensitivity and specificity, but later in pregnancy. We performed a review of the published literature evaluating the use of cffDNA and ultrasound for prenatal determination of fetal sex during the first trimester of pregnancy. We present the feasibility of the two methods and their impact on clinical practice. We applied a sensitive search of multiple bibliographic databases including Pubmed (MEDLINE), EMBASE, the Cochrane Library and Web of science between 1998 and 2013. Sixteen reports of the determination of fetal sex in maternal blood and 13 reports of the determination by ultrasound met our inclusion criteria. We found a sensitivity and specificity of nearly 100% from 8 weeks of gestation for cffDNA and from 13 weeks of gestation for ultrasound respectively. Based on this review, we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA and at an earlier gestation than ultrasound. Ten years after the first feasibility study, the French National Authority for Health (HAS) released a technological assessment report on the determination of fetal sex in maternal blood, which has resulted in validating this test for reimbursement by the national health insurance fund for the following indications: X-linked recessive disease and congenital adrenal hyperplasia. Copyright © 2013. Published by Elsevier Ireland Ltd.

  20. Obstetric professionals' perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications.

    Science.gov (United States)

    Ngan, Olivia Miu Yung; Yi, Huso; Wong, Samuel Yeung Shan; Sahota, Daljit; Ahmed, Shenaz

    2017-09-05

    While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. A cross-sectional survey among 327 obstetric professionals (237 midwives, 90 obstetricians) in Hong Kong. Compared to FTS, NIPT was believed to: provide more psychological benefits and enable earlier consideration of termination of pregnancy. Compared to IPD, NIPT was believed to: provide less psychological stress for high-risk women and more psychological assurance for low-risk women, and offer an advantage to detect chromosomal abnormalities earlier. Significant differences in perceived clinical usefulness were found by profession and healthcare sector: (1) obstetricians reported more certain views towards the usefulness of NIPT than midwives and (2) professionals in the public sector perceived less usefulness of NIPT than the private sector. Beliefs about earlier detection of DS using NIPT were associated with ethical concerns about increasing abortion. Participants believing that NIPT provided psychological assurance among low-risk women were less likely to be concerned about ethical issues relating to informed decision-making and pre-test consultation for NIPT. Our findings suggest the need for political debate initially on how to ensure pregnant women accessing public services are informed about commercially available more advanced technology, but also on the potential implementation of NIPT within public services to improve access and equity to DS screening services.

  1. Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype.

    Science.gov (United States)

    Srebniak, M I; Diderich, K E M; Noomen, P; Dijkman, A; de Vries, F A T; van Opstal, D

    2014-07-01

    We present a unique case in which non-invasive and invasive prenatal diagnoses showed abnormal, but discordant, results. A patient with abnormal non-invasive prenatal test (NIPT) results, indicating a 99% risk for monosomy X, was referred to our center for genetic counseling and confirmatory studies. Cytogenetic analysis of uncultured mesenchymal core of chorionic villi (CV) revealed a mosaic male karyotype consisting of two abnormal cell lines: one with monosomy X and the other with an isodicentric chromosome Y. Array analysis of the trophoblast confirmed the NIPT results. Based on the CV results, the patient opted for termination of pregnancy. After extensive counseling by a clinical geneticist about the possible outcomes and by a gynecologist about the risk of a second-trimester abortion procedure, the patient agreed to undergo early amniocentesis. Amniocentesis confirmed that the fetus had a male karyotype with an isodicentric chromosome Y, and the single nucleotide polymorphism (SNP) array profile suggested absence of the monosomy X cell line. The male infant was expected to be infertile. The patient finally decided to continue the pregnancy. Our case confirms that NIPT results are comparable with those of short-term cultured CV investigating the cytotrophoblast. Our patient was not aware that the NIPT results reveal the placental karyotype, which sometimes may be different from the fetal karyotype. Pretest counseling and providing the risk figures for false-positive and false-negative NIPT results are of great importance in order to discourage women from terminating pregnancies based on NIPT results alone. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  2. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

    Science.gov (United States)

    van Schendel, Rachèl V; Page-Christiaens, G C Lieve; Beulen, Lean; Bilardo, Catia M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H; van Langen, Irene M; Lichtenbelt, Klaske D; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2016-12-01

    To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice. A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70-7.22], p testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001). The majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low-educated and less health-literate women. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  3. Survey of attitudes of Chinese perinatologists and obstetricians toward non-invasive prenatal genetic testing.

    Science.gov (United States)

    Zhai, Jinguo; Cai, Wenzhi; Li, Cuilan; Chen, Min; Huang, Lijuan; Zhong, Mei

    2016-11-01

    The clinical application of non-invasive prenatal testing (NIPT) is still very limited in China. We carried out a survey to assess the willingness of Chinese obstetricians to offer NIPT and to determine how they would implement it and what resources they would need for the testing. Between June 2014 and June 2015, a survey was conducted at a large academic referral center with data obtained from 392 registered perinatologists and obstetricians who completed an entire questionnaire. Most respondents (72.5%) agreed or strongly agreed that the percentage of women patients refusing to accept NIPT would increase if they were charged directly for the test. Most respondents (82.7%) answered affirmatively that the national health administration agencies should formulate a standard charge for NIPT. The most important factors that influence the application of NIPT are the popularity of the test and its cost. The majority of respondents indicated that there are appropriate reasons for NIPT. The importance of NIPT and guidelines for the application of NIPT should be clarified in current clinical practice in China. Extensive education regarding NIPT application is necessary prior to mass implementation. © 2016 Japan Society of Obstetrics and Gynecology.

  4. Non-invasive prenatal testing: a review of international implementation and challenges.

    Science.gov (United States)

    Allyse, Megan; Minear, Mollie A; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.

  5. Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies.

    Science.gov (United States)

    Beulen, L; Faas, B H W; Feenstra, I; van Vugt, J M G; Bekker, M N

    2017-06-01

    To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome, as well as partial, autosomal aneuploidy. Sex chromosomes were not analyzed, according to the current protocol in Dutch laboratories. NIPT was performed at a median gestational age of 20 weeks, indicated by the presence of multiple congenital anomalies (n = 13), isolated structural anomalies (n = 57), increased nuchal translucency ≥ 3.5 mm (n = 58), soft markers (n = 73), growth restriction (n = 40) and other anomalies (n = 10). NIPT results were normal in 224 (89.2%) pregnancies, inconclusive in one (0.4%) and abnormal in 26 (10.4%). Most genetic aberrations detected by NIPT were common whole-chromosome aneuploidies: trisomy 21 (n = 13), trisomy 18 (n = 6) and trisomy 13 (n = 3). Four further NIPT results were abnormal; one was suspected of being confined placental mosaicism and one was of maternal origin. In those with normal NIPT results, sonographic follow-up or examination of the newborn indicated the need for diagnostic genetic testing in 33/224 (14.7%) pregnancies. Clinically relevant genetic aberrations were revealed in 7/224 (3.1%) cases, two of which were whole-chromosome aneuploidies: trisomy 13 and monosomy X. As sex chromosomal aberrations are not included in NIPT analysis, the latter cannot be considered a false-negative result. Other discordant findings were subchromosomal aberrations (NIPT should not be recommended for genetic evaluation of the etiology of ultrasound

  6. Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.

    Science.gov (United States)

    Cheng, Hiu Yee Heidi; Kan, Anita Sik-Yau; Hui, Pui Wah; Lee, Chin Peng; Tang, Mary Hoi Yin

    2017-12-01

    The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors. For the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic. The perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients. Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience.

  7. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.

    Science.gov (United States)

    Zhou, Qiyin; Pan, Ling; Chen, Songchang; Chen, Fang; Hwang, Rosa; Yang, Xiaonan; Wang, Wei; Jiang, Jingyi; Xu, Jian; Huang, Hefeng; Xu, Chenming

    2014-11-01

    The aim of this study is to report the clinical application of noninvasive prenatal testing (NIPT) to detect chromosomal aneuploidies, especially trisomies 21, 18, and 13 in Chinese singleton pregnancies. Pilot validation between NIPT with full karyotyping was conducted blindly on 306 cases. Subsequently, 7705 pregnancies were offered with NIPT. Follow-up data was obtained in all cases. In the validation stage, a total of five NIPT positive cases were observed for trisomies 21 and 18, and results were confirmed by karyotyping; there were no cases of trisomy 13. Thus, the overall sensitivity and specificity in the validation stage was 100%. In 7705 cases, NIPT results were obtained in 7701 cases; 66 cases were classified as positive, including 48 cases of trisomy 21, 14 cases of trisomy 18, and 4 cases of trisomy 13. Subsequent karyotyping documented two false positive diagnoses for trisomies 21, 18, and 13, respectively. Sensitivity and specificity for detection of trisomies 21 and 18 and 13 were 100% and 99.9%, respectively. Additionally, prenatal chromosomal detection for pregnancies with NIPT has shown a gradual increase since its implementation. Noninvasive prenatal testing allows a more suitable and efficient workflow for our patients' needs, together with invasive procedures allows a higher prenatal detection of chromosomal aneuploidies. © 2014 John Wiley & Sons, Ltd.

  8. The Prenatal Care at School Program

    Science.gov (United States)

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  9. Non-invasive prenatal testing for trisomies 21, 18 and 13

    DEFF Research Database (Denmark)

    Zhang, H.; Gao, Y.; Jiang, F.

    2015-01-01

    OBJECTIVES: To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. METHODS: Between 1 January 2012...... samples, for which outcome data were available in 112 669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false...... difference in test performance between the 72 382 high-risk and 40 287 low-risk subjects (sensitivity, 99.21% vs 98.97% (P = 0.82); specificity, 99.95% vs 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal...

  10. Feasibility of noninvasive prenatal testing for common fetal aneuploidies in an early gestational window.

    Science.gov (United States)

    Shi, Xiaolin; Zhang, Zhitao; Cram, David S; Liu, Caixia

    2015-01-15

    Noninvasive prenatal testing (NIPT) by massively parallel sequencing (MPS) of the circulating cell free fetal (cff) DNA during the second trimester of pregnancy is now a frontline test for detecting common fetal chromosomal abnormalities. However, the availability of an earlier test result in the first trimester would enable better clinical management of high-risk pregnancies. The aim of the study was to determine the feasibility of early gestational NIPT. Plasma DNA libraries were subjected to MPS and chromosomal read counts normalized to reference. Chromosomal aneuploidy was determined by z-scores (-3fetal fraction in the first trimester was 7.6 ± 4.18% and 15% of samples were identified with a cff fraction below 4%. Different trends of cff DNA fraction change were observed between the first and second trimester, with 59% of pregnancies showing an increase, 17% showing no change and 24% showing a decrease. Although NIPT was highly reliable and accurate at an earlier gestational age, clinical implementation should proceed with caution due to a small, but significant, number of pregnancies associated with a low cff DNA fraction. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT).

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    Jia, Yifang; Zhao, Heyong; Shi, Donghong; Peng, Wen; Xie, Luwen; Wang, Wei; Jiang, Fuman; Zhang, Hongyun; Wang, Xietong

    2014-01-01

    Microdeletions of chromosome 13q31.1 are relatively rare. These types of deletions may cause different genetic effects on genotypes and/or phenotypes. There are several ways to detect microdeletions; noninvasive prenatal testing (NIPT) is the newest detection method. In this study, we aimed to investigate the genetic effects of a 13q31.1 microdeletion detected by NIPT and to reconfirm the feasibility of this procedure in predicting sub-chromosomal copy number variations (CNVs). The 13q31.1 microdeletion, which has previously been described as a disease-associated fragment, was detected by NIPT in a pregnant woman. To validate the finding and to explain the origin of this sub-chromosomal CNV, we collected fetal amniotic fluid and parental blood samples and tested the samples using array-based comparative genomic hybridization (aCGH). Karyotype analysis was performed on all of the samples to rule out balanced or mosaic anomalies. The aCGH results confirmed the NIPT findings. We detected the same type of microdeletion in the fetus and the mother via aCGH. The mother had a normal phenotype; therefore, in a post-test genetic counseling session, we predicted a normal phenotype for the fetus. After delivery, the normal phenotype of the newborn confirmed our prediction. Based on the present study, this 13q31.1 microdeletion may be considered as a chromosomal polymorphism. This study also reconfirmed the feasibility of obtaining a molecular karyotype of a fetus via NIPT.

  12. Noninvasive Fetal Trisomy (NIFTY test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

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    Jiang Fuman

    2012-12-01

    Full Text Available Abstract Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis.

  13. Pre-analytical conditions in non-invasive prenatal testing of cell-free fetal RHD.

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    Frederik Banch Clausen

    Full Text Available BACKGROUND: Non-invasive prenatal testing of cell-free fetal DNA (cffDNA in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD directs the administration of antenatal anti-D prophylaxis only to women who carry an RhD positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based on data from routine antenatal RHD screening. METHODS: Blood samples were drawn at gestational age 25 weeks. DNA extracted from 1 mL of plasma was analyzed for fetal RHD using a duplex method for exon 7/10. We investigated the effect of blood sample transportation time (n = 110 and ambient outdoor temperatures (n = 1539 on the levels of cffDNA and total DNA. We compared two different quantification methods, the delta Ct method and a universal standard curve. PCR pipetting was compared on two systems (n = 104. RESULTS: The cffDNA level was unaffected by blood sample transportation for up to 9 days and by ambient outdoor temperatures ranging from -10 °C to 28 °C during transport. The universal standard curve was applicable for cffDNA quantification. Identical levels of cffDNA were observed using the two automated PCR pipetting systems. We detected a mean of 100 fetal DNA copies/mL at a median gestational age of 25 weeks (range 10-39, n = 1317. CONCLUSION: The setup for real-time PCR-based, non-invasive prenatal testing of cffDNA in the Capital Region of Denmark is very robust. Our findings regarding the transportation of blood samples demonstrate the high stability of cffDNA. The applicability of a universal standard curve facilitates easy cffDNA quantification.

  14. Pre-Analytical Conditions in Non-Invasive Prenatal Testing of Cell-Free Fetal RHD

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    Rieneck, Klaus; Krog, Grethe Risum; Nielsen, Leif Kofoed; Tabor, Ann; Dziegiel, Morten Hanefeld

    2013-01-01

    Background Non-invasive prenatal testing of cell-free fetal DNA (cffDNA) in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD) directs the administration of antenatal anti-D prophylaxis only to women who carry an RhD positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based on data from routine antenatal RHD screening. Methods Blood samples were drawn at gestational age 25 weeks. DNA extracted from 1 mL of plasma was analyzed for fetal RHD using a duplex method for exon 7/10. We investigated the effect of blood sample transportation time (n = 110) and ambient outdoor temperatures (n = 1539) on the levels of cffDNA and total DNA. We compared two different quantification methods, the delta Ct method and a universal standard curve. PCR pipetting was compared on two systems (n = 104). Results The cffDNA level was unaffected by blood sample transportation for up to 9 days and by ambient outdoor temperatures ranging from -10°C to 28°C during transport. The universal standard curve was applicable for cffDNA quantification. Identical levels of cffDNA were observed using the two automated PCR pipetting systems. We detected a mean of 100 fetal DNA copies/mL at a median gestational age of 25 weeks (range 10–39, n = 1317). Conclusion The setup for real-time PCR-based, non-invasive prenatal testing of cffDNA in the Capital Region of Denmark is very robust. Our findings regarding the transportation of blood samples demonstrate the high stability of cffDNA. The applicability of a universal standard curve facilitates easy cffDNA quantification. PMID:24204719

  15. Low dose prenatal alcohol exposure does not impair spatial learning and memory in two tests in adult and aged rats.

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    Carlie L Cullen

    Full Text Available Consumption of alcohol during pregnancy can have detrimental impacts on the developing hippocampus, which can lead to deficits in learning and memory function. Although high levels of alcohol exposure can lead to severe deficits, there is a lack of research examining the effects of low levels of exposure. This study used a rat model to determine if prenatal exposure to chronic low dose ethanol would result in deficits in learning and memory performance and if this was associated with morphological changes within the hippocampus. Sprague Dawley rats were fed a liquid diet containing 6% (vol/vol ethanol (EtOH or an isocaloric control diet throughout gestation. Male and Female offspring underwent behavioural testing at 8 (Adult or 15 months (Aged of age. Brains from these animals were collected for stereological analysis of pyramidal neuron number and dendritic morphology within the CA1 and CA3 regions of the dorsal hippocampus. Prenatal ethanol exposed animals did not differ in spatial learning or memory performance in the Morris water maze or Y maze tasks compared to Control offspring. There was no effect of prenatal ethanol exposure on pyramidal cell number or density within the dorsal hippocampus. Overall, this study indicates that chronic low dose prenatal ethanol exposure in this model does not have long term detrimental effects on pyramidal cells within the dorsal hippocampus or impair spatial learning and memory performance.

  16. Low dose prenatal alcohol exposure does not impair spatial learning and memory in two tests in adult and aged rats.

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    Cullen, Carlie L; Burne, Thomas H J; Lavidis, Nickolas A; Moritz, Karen M

    2014-01-01

    Consumption of alcohol during pregnancy can have detrimental impacts on the developing hippocampus, which can lead to deficits in learning and memory function. Although high levels of alcohol exposure can lead to severe deficits, there is a lack of research examining the effects of low levels of exposure. This study used a rat model to determine if prenatal exposure to chronic low dose ethanol would result in deficits in learning and memory performance and if this was associated with morphological changes within the hippocampus. Sprague Dawley rats were fed a liquid diet containing 6% (vol/vol) ethanol (EtOH) or an isocaloric control diet throughout gestation. Male and Female offspring underwent behavioural testing at 8 (Adult) or 15 months (Aged) of age. Brains from these animals were collected for stereological analysis of pyramidal neuron number and dendritic morphology within the CA1 and CA3 regions of the dorsal hippocampus. Prenatal ethanol exposed animals did not differ in spatial learning or memory performance in the Morris water maze or Y maze tasks compared to Control offspring. There was no effect of prenatal ethanol exposure on pyramidal cell number or density within the dorsal hippocampus. Overall, this study indicates that chronic low dose prenatal ethanol exposure in this model does not have long term detrimental effects on pyramidal cells within the dorsal hippocampus or impair spatial learning and memory performance.

  17. Advances in genetic prenatal diagnosis and screening.

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    Hardisty, Emily E; Vora, Neeta L

    2014-12-01

    Prenatal diagnostic and screening tests are routinely offered to all women in pregnancy. Advances in technology have led to an expansion in available testing. As technology improves, women are facing increasingly complex decisions regarding the quantity and quality of information they wish to have regarding their fetus. Professional guidelines support the use of chromosomal microarray analysis as a first-tier test in place of standard karyotype for the evaluation of fetal chromosomes when one or more anomaly is detected by ultrasound. These same guidelines indicate that either chromosomal microarray analysis or standard karyotype can be offered for prenatal diagnosis with a phenotypically normal fetus. Additionally, recent work continues to validate the use of noninvasive prenatal testing for the detection of aneuploidy in the high-risk population. This testing utilizes cell-free DNA in the maternal circulation to predict fetal karyotype with greater sensitivity and specificity than maternal serum screening or first trimester screening. Data continue to accumulate supporting noninvasive prenatal testing use in an all-risk or low-risk population. Additionally, noninvasive prenatal testing is clinically available to screen for a select number of microdeletion syndromes, broadening the scope of population-based screening to include conditions not previously evaluated, although there are limited data available regarding this application. As prenatal diagnosis becomes increasingly complex, there is a need for the education of both patients and providers regarding the benefits and limitations of the testing strategies available to them.

  18. Non-invasive prenatal testing for trisomy 13: more harm than good?

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    Verweij, E J; de Boer, M A; Oepkes, D

    2014-07-01

    A 35-year-old primigravida, pregnant after in-vitro fertilization, was seen because of a trisomy 13/trisomy 18 (T13/T18) risk of 1:55, based on the result of her first-trimester combined test. She elected for non-invasive prenatal testing (NIPT) at 14 + 5 weeks' gestation, which was positive for T13. After counseling, the patient elected to undergo amniocentesis. Quantitative fluorescence polymerase chain reaction (QF-PCR) showed no signs of trisomy, and full karyotyping confirmed a normal 46,XY result. Analysis of the published literature on NIPT for T13 gives an overall detection rate of 91.6%, with a false-positive rate of 0.097%. Based on this detection rate, hypothetical calculations show that the positive predictive value is highly dependent on the prevalence of the disease, resulting in an unfavorable balance between benefit and harm in a general population. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  19. NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

    Science.gov (United States)

    Sikkema-Raddatz, Birgit; Johansson, Lennart F; de Boer, Eddy N; Boon, Elles M J; Suijkerbuijk, Ron F; Bouman, Katelijne; Bilardo, Catia M; Swertz, Morris A; Dijkstra, Martijn; van Langen, Irene M; Sinke, Richard J; Te Meerman, Gerard J

    2016-12-05

    To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known. We tested the tool on 209 samples from pregnant women undergoing NIPT. For Z-scores NIPT results with the same Z-score, foetal DNA percentage and coefficient of variation. However, the PPR is effectively independent under all conditions for Z-scores above 6. A high PPR for low a priori risks can only be reached at Z-scores > 5. Our online tool can assist clinicians in understanding NIPT results and conveying their true clinical implication to pregnant women, because the PPR is crucial for individual counselling and decision-making.

  20. [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.

  1. Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors.

    Science.gov (United States)

    Martin, Linda; Gitsels-van der Wal, Janneke T; de Boer, Marjon A; Vanstone, Meredith; Henneman, Lidewij

    2017-09-24

    In 2014, non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 was added to the Dutch prenatal screening program as part of the TRIDENT study. Most (85%) pregnant Dutch women are counselled for prenatal aneuploidy screening by primary care midwives. This will remain when NIPT is implemented as a first-tier screening test. We therefore investigated midwife counsellors': 1) Knowledge about NIPT; 2) Attitudes towards NIPT as first-tier screening test; and 3) Experiences with informing clients about NIPT. Between April-June 2015, an online questionnaire to assess knowledge about NIPT, attitudes towards NIPT, and experiences with NIPT was completed by 436 Dutch primary care midwives. We found that 59% midwives answered ≥7 of 8 knowledge questions correctly. Continuing professional education attendance and more positive attitudes towards prenatal screening for Down syndrome were positively associated with the total knowledge score (β = 0.261; p = 0.007 and β = 0.204; p = 0.015, respectively). The majority (67%) were in favor of replacing First trimester Combined Test with NIPT, although 41% preferred to maintain a nuchal translucency measurement alongside NIPT. We conclude that midwives demonstrated solid knowledge about NIPT that may still be improved in some areas. Dutch midwives overwhelmingly support the integration of NIPT as a first-tier screening test. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

    Science.gov (United States)

    Oepkes, Dick; Page‐Christiaens, G. C. (Lieve); Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Catia M.; Boon, Elles M. J.; Schuring‐Blom, G. Heleen; Coumans, Audrey B. C.; Faas, Brigitte H.; Galjaard, Robert‐Jan H.; Go, Attie T.; Henneman, Lidewij; Macville, Merryn V. E.; Pajkrt, Eva; Suijkerbuijk, Ron F.; Huijsdens‐van Amsterdam, Karin; Van Opstal, Diane; Verweij, E. J. (Joanne); Weiss, Marjan M.

    2016-01-01

    Abstract Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn‐around time and pregnancy outcome. Results Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high‐risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy‐nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn‐around time was 14 days. Follow‐up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. Conclusion Introduction of NIPT in the Dutch National healthcare‐funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:27750376

  3. A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy.

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Chitty, Lyn S

    2016-09-01

    To explore women's attitudes towards non-invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT. We conducted qualitative interviews to assess knowledge, attitude and deliberation amongst women offered NIPT in a public health service. In total, 45 women took part in telephone interviews (79% participation rate). Most women could recount the key aspects of NIPT discussed during pre-test counselling but had variable knowledge about Down syndrome. Analysis of women's attitudes towards undergoing NIPT revealed three dominant factors they considered when reflecting on the test: (1) how NIPT compared with alternative testing options, (2) reflections on coping and (3) moral or religious values. Exploring the deliberative process revealed the different paths women take when making decisions. For some, it was an extension of the decision to have Down syndrome screening; some considered it early on following the booking-in appointment; others made step-wise decisions about NIPT when it became relevant to them. Our findings support the importance of personalised counselling, whereby women and their partners have the opportunity to reflect on the implications of the test results in the context of their own lives and values. Our data highlight the influence of personal circumstances on decision-making. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  4. The Right to Ignore Genetic Risk in the Genomic Era - Prenatal testing for Huntington Disease as a paradigm

    Science.gov (United States)

    Erez, Ayelet; Plunkett, Katie; Sutton, V. Reid; McGuire, Amy L

    2013-01-01

    During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a case of familial Huntington disease (HD), where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This paper discusses the arguments for and against the right not to know of one’s carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has been the gold standard for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient’s right to “genetic ignorance”, the right not to know genetic information. PMID:20583190

  5. Prenatal Care: Second Trimester Visits

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    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- ...

  6. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.

    Science.gov (United States)

    Song, Y; Huang, S; Zhou, X; Jiang, Y; Qi, Q; Bian, X; Zhang, J; Yan, Y; Cram, D S; Liu, J

    2015-01-01

    To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detected by massively parallel sequencing of maternal plasma DNA samples. Invasive prenatal diagnosis by either chorionic villus sampling or amniocentesis and then karyotyping was offered to all women to confirm both positive and negative NIPT results. Fetal DNA fraction was also determined in male pregnancies, by the relative percentage of Y-chromosome sequences. All confirmed NIPT-negative pregnancies were followed up to birth and neonates were clinically evaluated for any symptoms of chromosomal disease. Autosomal aneuploidies trisomy 21 (n = 2), 18 (n = 1) and 13 (n = 1) were detected by NIPT and confirmed by amniocentesis and karyotyping. There were one false-positive 45,X sample and two false-negative samples associated with fetal karyotypes 47,XXY and 45,X[16]/47,XXX[14]. In the 100 male pregnancies, the median fetal DNA fraction was 8.54% and there was a trend towards an increasing fetal fraction from 8 + 0 to 12 + 6 weeks' gestation. The majority (95%) of pregnancies had a fetal DNA fraction > 4%, which is generally the limit for accurate aneuploidy detection by NIPT. Across this early gestational time period, there was a weak inverse relationship (R(2)  = 0.186) between fetal DNA fraction and maternal weight. NIPT is highly reliable and accurate when applied to maternal DNA samples collected from pregnant women in the first trimester between 8 + 0 and 12 + 6 weeks. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  7. Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.

    Science.gov (United States)

    van Schendel, Rachèl V; Page-Christiaens, G C M Lieve; Beulen, Lean; Bilardo, Caterina M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H W; van Langen, Irene M; Lichtenbelt, Klaske D; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2017-12-01

    Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction. The majority (96.1%) were glad to have been offered NIPT. Most (68.5%) perceived the waiting time for NIPT results (mean: 15 days, range 5-32) as (much) too long. Most women with a normal NIPT result felt reassured (80.9%) or somewhat reassured (15.7%). Levels of anxiety and child-related anxiety were significantly lower after receiving a normal NIPT result as compared to the moment of intake (p test-result anxiety (Mean (M) STAI = 31.6 and 30.0, respectively) compared to those with adequate health literacy (M = 28.6) and no medical history (M = 28.6), indicating these women might benefit from extra information and/or guidance when communicating NIPT test-results. Introducing NIPT as an alternative to invasive testing, led to an offer that satisfied and largely reassured high-risk pregnant women.

  8. Experiences regarding maternal age-specific risks and prenatal testing of women of advanced maternal age in Japan.

    Science.gov (United States)

    Murakami, Kyoko; Turale, Sue; Skirton, Heather; Doris, Faye; Tsujino, Kumiko; Ito, Misae; Kutsunugi, Saeko

    2016-03-01

    The number of pregnant women of advanced maternal age has increased worldwide. Women in this group have an increased chance of fetal abnormality. To explore Japanese women's experiences regarding maternal age-specific risks and prenatal testing, we conducted a descriptive qualitative study. Semi-structured interviews were conducted with 16 women aged 35 years or over who had given birth within the previous three months to a healthy, term infant. Thematic analysis of transcribed interview data was performed and three major themes were identified: inadequate understanding of genetic risks; insufficiently informed choice regarding prenatal testing; and need for more information from health professionals. Some participants were not aware of maternal age-specific risks to the fetus. Many took their cues from health professionals and did not raise the topic themselves, but would have considered prenatal testing if made aware of the risks. Nurses, midwives and other health professionals need to adequately inform pregnant women about the genetic risks to the fetus and offer testing at an appropriate stage early in the pregnancy. © 2015 Wiley Publishing Asia Pty Ltd.

  9. Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.

    Science.gov (United States)

    Al Sabbah, Haleama; Khan, Sarah; Hamadna, Abdallah; Abu Ghazaleh, Lamia; Dudin, Anwar; Karmi, Bashar Adnan

    2017-01-01

    Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Convenience sampling was used to select 32 women (72 fetuses) who were at risk of having a baby with β-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. Among the fetuses screened, 36 (50%) were thalassemia carriers and 20 (28%) had β-thalassemia; 17 (85%) affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with β-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05). A religious consensus is needed on the abortion of fetuses affected by β-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of β-thalassemia in Palestine and around the world.

  10. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

    Directory of Open Access Journals (Sweden)

    R. Hochstenbach

    2015-01-01

    Full Text Available Noninvasive prenatal testing (NIPT validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. Both cases came to our attention because a fetal anatomy scan at 20 weeks of gestation revealed multiple anomalies. Karyotyping of cultured amniocytes showed nonmosaic trisomies 13 and 18, respectively. Cytogenetic investigation of cytotrophoblast cells from multiple placental biopsies showed a low proportion of nontrisomic cells in each case, but this was considered too small for explaining the false negative NIPT result. The discordant results also could not be explained by early gestational age, elevated maternal weight, a vanishing twin, or suboptimal storage or transport of samples. The root cause of the discrepancies could, therefore, not be identified. The couples involved experienced difficulties in accepting the unexpected and late-adverse outcome of their pregnancy. We recommend that all parties involved in caring for couples who choose NIPT should collaborate to clarify false negative results in order to unravel possible biological causes and to improve the process of patient care from initial counseling to communication of the result.

  11. [Overview of feelings and practices of gynecologists and obstetricians for the noninvasive prenatal testing in France].

    Science.gov (United States)

    Bardy-Evrard, C; Mattuizzi, A; Coatleven, F; Nithart, A; Evrard, G; Benachi, A; Nisand, I; Sentilhes, L

    2017-12-07

    To evaluate the feelings and practices of French obstetrician-gynecologists in prescribing the noninvasive prenatal testing (NIPT) before the release of the French High Authority of Health recommendations. Descriptive, declarative and transversal study, analyzing the feelings and practices of obstetrician-gynecologists, members of the French College of Gynecologists and Obstetricians (CNGOF) between February and May 2017 using an online questionnaire. Practitioners' feedback was self-assessed for several clinical situations using a numerical scale ranging from 1 to 10. This experience was rated as "good" (grades 6 to 10) or "bad" (grades 1-5). Overall, 529 practitioners (29.2%) of 1812 CNGOF members, answered the online questionnaire. A "good" feeling was found for more than 65% of the practitioners audited. Feelings were significantly better for obstetricians, sonographers (Ppregnancy resulting from PMA (68.3%), history of fetal aneuploidy (54%) and a parent carrying a Robertsonian translocation (51.6%). This study highlights a good overall feeling of the practitioners with the NIPT. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  12. 'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan.

    Science.gov (United States)

    Bryant, Louise D; Ahmed, Shenaz; Ahmed, Mushtaq; Jafri, Hussain; Raashid, Yasmin

    2011-04-01

    Understanding the psychosocial impact of a congenital condition such as Down syndrome on affected individuals and their family requires an understanding of the cultural context in which they are situated. This study carried out in 2008 used Q-Methodology to characterize understandings of Down syndrome (DS) in Pakistan in a sample of health professionals, researchers and parents of children with the condition. Fifty statements originally developed for a UK study and translated into Urdu were Q-sorted by 60 participants. The use of factor analytic techniques identified three independent accounts and qualitative data collected during the Q-sorting exercise supported their interpretation. In two accounts, the 'will of God' was central to an understanding of the existence of people with DS although perceptions about the value and quality of life of the affected individual differed significantly between these accounts as did views about the impact on the family. The third account privileged a more 'scientific worldview' of DS as a genetic abnormality but also a belief that society can further contribute to disabling those affected. Attitudes towards prenatal testing and termination of pregnancy demonstrated that a belief in the will of Allah was not necessarily associated with a rejection of these technologies. Accounts reflect the religious, cultural and economic context of Pakistan and issues associated with raising a child with a learning disability in that country. Copyright © 2011 Elsevier Ltd. All rights reserved.

  13. Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea.

    Science.gov (United States)

    Lee, Mi-Young; Cho, Dae-Yeon; Won, Hye-Sung; Hwang, Ah Reum; Jeong, Bada; Kim, Jihun; Oh, Mijin

    2015-09-01

    To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPT results were compared with those of karyotype analyses. Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction. Based on NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 and T18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and a positive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmed to have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies were detected by NIPT or karyotyping during the study period. Momguard is a reliable screening tool for detecting T21 and T18. For T13 and sex-chromosome anomalies, further prospective studies are necessary to confirm its utility.

  14. Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.

    Science.gov (United States)

    Wang, Leilei; Meng, Qian; Tang, Xinxin; Yin, Ting; Zhang, Jinglu; Yang, Shuting; Wang, Xuyun; Wu, Haiqian; Shi, Qingxi; Jenkins, Edmund C; Zhong, Nanbert; Gu, Ying

    2015-10-01

    To investigate the clinical efficiency of noninvasive prenatal test (NIPT) identifying fetal chromosomal aneuploidies. In the present study, 917 women with high-risk pregnancies were invited to participate in an NIPT trial based on an Illumina HiSeq massively parallel sequencing platform. Abnormal cases in NIPT were validated by karyotyping and fluorescence in situ hybridization (FISH) analysis. All of the participants' infants were examined clinically and followed up for at least 6 months. A total of 35 (3.82%) high-risk pregnancies were detected with abnormal results in NIPT, which included 25 cases (2.73%) of trisomy 21 (Tri21), four cases (0.44%) of trisomy 18 (Tri18), four cases (0.44%) of Turner syndrome (45, X), one cases (0.11%) of Klinefelter's syndrome (47, XXY), and one cases (0.11%) with lower X chromosome concentration. Further validation indicated that one case of Tri18 and the case with lower X chromosome concentration were false positive results (0.22%) in NIPT. Furthermore, it was found that the false positive case with lower X chromosome concentration in NIPT was caused by maternal sex chromosomal mosaicism (45, X and 46, XX). Our findings indicated that maternal mosaicism of sex chromosome could cause discordant sex chromosomal aneuploidies associated with NIPT. We highly recommended that maternal karyotype should be confirmed for the cases with abnormal results in NIPT. Copyright © 2015. Published by Elsevier B.V.

  15. Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

    Directory of Open Access Journals (Sweden)

    Peter Benn

    2014-05-01

    Full Text Available Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis.

  16. Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

    Science.gov (United States)

    Benn, Peter

    2014-01-01

    Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis. PMID:26237390

  17. Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake.

    Science.gov (United States)

    Lewis, C; Hill, M; Silcock, C; Daley, R; Chitty, L S

    2014-04-01

    To assess the views and likely uptake of non-invasive prenatal testing (NIPT) for trisomy 21 among potential service users in the UK. Cross-sectional survey. Four antenatal clinics in England and two websites. A total of 1131 women and partners. Questionnaire conducted with women (and partners) recruited through antenatal clinics, a random sample of members of the website Mumsnet, and viewers of the website and Facebook page of the support group Antenatal Results and Choices (ARC). Factors impacting decision-making towards prenatal testing; views on NIPT, including service delivery and likely uptake; hypothetical scenarios, focused on current screening, invasive testing, and NIPT offered to women with a high-risk screening result. The vast majority (95.7%; 1071/1119; 95% CI 94.4-96.8%) thought NIPT was a positive development in prenatal care, with 88.2% (972/1103; 95% CI 86.1-90%) indicating that they would use the test, including respondents who would currently decline trisomy 21 screening (P < 0.001). Of the respondents who would have NIPT, 30.7% (299/973; 95% CI = 27.8-33.7%) said that they were 'likely' to terminate an affected pregnancy (including those who would currently decline screening or invasive testing), and 36.5% (355/973; 95% CI 33.5-39.6%) were 'not likely' to terminate an affected pregnancy. Respondents overwhelmingly indicated that safety for the baby was the most important attribute of NIPT (70.1%; 712/1015; 95% CI 67.2-73%). Respondents were overwhelmingly positive towards the introduction of NIPT. Uptake is likely to be high, and includes women who currently decline screening as well as those who will use the test for information only. Pre-test counselling to ensure that women understand the implications of the test result is essential. © 2014 Royal College of Obstetricians and Gynaecologists.

  18. Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives†

    Science.gov (United States)

    van Schendel, Rachèl V.; Page‐Christiaens, G. C. (Lieve); Beulen, Lean; Bilardo, Catia M.; de Boer, Marjon A.; Coumans, Audrey B. C.; Faas, Brigitte H.; van Langen, Irene M.; Lichtenbelt, Klaske D.; van Maarle, Merel C.; Macville, Merryn V. E.; Oepkes, Dick; Pajkrt, Eva

    2016-01-01

    Abstract Objective To evaluate preferences and decision‐making among high‐risk pregnant women offered a choice between Non‐Invasive Prenatal Testing (NIPT), invasive testing or no further testing. Methods Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first‐trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice. Results A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70–7.22], p testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001). Conclusions The majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low‐educated and less health‐literate women. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:27739584

  19. Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

    Science.gov (United States)

    Hill, Melissa; Wright, David; Daley, Rebecca; Lewis, Celine; McKay, Fiona; Mason, Sarah; Lench, Nicholas; Howarth, Abigail; Boustred, Christopher; Lo, Kitty; Plagnol, Vincent; Spencer, Kevin; Fisher, Jane; Kroese, Mark; Morris, Stephen; Chitty, Lyn S

    2014-07-16

    Non-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK's National Health Service (NHS). Successful implementation will require the development of laboratory standards, consideration of stakeholder views, an analysis of costs and development of patient and health professional educational materials. NIPT will be offered in an NHS setting as a contingent screening test. Pregnant woman will be recruited through six maternity units in England and Scotland. Women eligible for Down's syndrome screening (DSS) will be informed about the study at the time of booking. Women that choose routine DSS will be offered NIPT if they have a screening risk ≥ 1:1000. NIPT results for trisomy 21, 18, 13 will be reported within 7-10 working days. Data on DSS, NIPT and invasive testing uptake, pregnancy outcomes and test efficacy will be collected. Additional data will be gathered though questionnaires to a) determine acceptability to patients and health professionals, b) evaluate patient and health professional education, c) assess informed choice in women accepting or declining testing and d) gauge family expenses. Qualitative interviews will also be conducted with a sub-set of participating women and health professionals. The results of this study will make a significant contribution to policy decisions around the implementation of NIPT for aneuploidies within the UK NHS. The laboratory standards for testing and reporting, education materials and counselling strategies developed as part of the study are likely to underpin the introduction of NIPT into NHS practice. 13865.

  20. Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing.

    Science.gov (United States)

    Kagan, K O; Hoopmann, M; Hammer, R; Stressig, R; Kozlowski, P

    2015-02-01

    To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Retrospective study involving 21,052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assumed that NIPT detects 99 %, 98 %, 90 % and 99 % of cases with trisomy 21, 18, 13 and sex chromosomal abnormalities and that the false-positive rate is 0.5 %. The following screening policies were examined: NIPT or FTS with sum risk cut-offs of 1 in 50 and 1 in 250 in all patients or a two-step-policy with FTS in all patients followed by NIPT in the intermediate sum risk group. For the intermediate risk group, sum risk cut-offs of 1 in 50 and 1 in 1000 and 1 in 150 and 1 in 500 were used. There were 127, 34, 13 and 15 pregnancies with trisomy 21, 18, 13 and sex chromosomal abnormalities. 23 fetuses had other chromosomal abnormalities with an increased risk for adverse outcome that are not detectable by NIPT. 20,840 pregnancies were classified as normal as ante- and postnatal examinations did not show any signs of clinically significant chromosomal abnormalities. FTS with a sum risk cut-off of 1 in 50 and 1 in 250 detects 81 % and 91 % for all aneuploidies. NIPT detects 88 % of the respective pregnancies. The 2-step approach with sum risk cut-offs of 1 in 50 and 1 in 1000 detects 94 % of all aneuploidies. With sum risk cut-offs of 1 in 150 and 1 in 500, the detection rate is 93 %. A 2-step policy with FTS for all patients and NIPT in the intermediate risk group results in the highest detection rate of all aneuploidies. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Factors affecting the uptake of prenatal screening tests for congenital anomalies; a multicentre prospective cohort study.

    Science.gov (United States)

    Gitsels-van der Wal, Janneke T; Verhoeven, Pieternel S; Manniën, Judith; Martin, Linda; Reinders, Hans S; Spelten, Evelien; Hutton, Eileen K

    2014-08-09

    Two prenatal screening tests for congenital anomalies are offered to all pregnant women in the Netherlands on an opt-in basis: the Combined Test (CT) for Down syndrome at twelve weeks, and the Fetal Anomaly Scan (FAS) at around twenty weeks. The CT is free for women who are 36 or older; the FAS is free for all women. We investigated factors associated with the CT and FAS uptake. This study is part of the DELIVER study that evaluated primary care midwifery in the Netherlands. Associations between the women's characteristics and the CT and FAS uptake were measured using multivariate and multilevel logistic regression analyses. Of 5216 participants, 23% had the CT and 90% had the FAS, with uptake rates ranging from 4% to 48% and 62% to 98% respectively between practices. Age (OR: 2.71), income (OR: 1.38), ethnicity (OR: 1.37), being Protestant (OR: 0.25), multiparous (OR: 0.64) and living in the east of the country (OR: 0.31) were associated with CT uptake; education (OR: 1.26), income (OR: 1.66), being Protestant (OR: 0.37) or Muslim (OR: 0.31) and being multiparous (OR: 0.74) were associated with FAS uptake. Among western women with a non-Dutch background, first generation (OR: 2.91), age (OR: 2.00), income (OR: 1.97), being Protestant (OR: 0.32) and living in the east (OR: 0.44) were associated with CT uptake; being Catholic (OR: 0.27), Protestant (OR: 0.13) were associated with FAS uptake. Among non- western women with a non-Dutch background, age (OR: 1.73), income (OR: 1.97) and lacking proficiency in Dutch (OR: 2.18) were associated with CT uptake; higher education (OR: 1.47), being Muslim (OR: 0.37) and first generation (OR: 0.27) were associated with FAS uptake. The uptake of the CT and FAS varied widely between practices. Income, parity and being Protestant were associated with uptake of both tests; ethnicity, age and living in the east were associated with CT uptake, and education and being Muslim with FAS uptake. These findings help to explain some

  2. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study.

    Science.gov (United States)

    Dhallan, Ravinder; Guo, Xin; Emche, Sarah; Damewood, Marian; Bayliss, Philip; Cronin, Michael; Barry, Julie; Betz, Jordan; Franz, Kara; Gold, Katie; Vallecillo, Brett; Varney, John

    2007-02-10

    Use of free fetal DNA to diagnose fetal chromosomal abnormalities has been hindered by the inability to distinguish fetal DNA from maternal DNA. Our aim was to establish whether single nucleotide polymorphisms (SNPs) can be used to distinguish fetal DNA from maternal DNA-and to determine the number of fetal chromosomes-in maternal blood samples. Formaldehyde-treated blood samples from 60 pregnant women and the stated biological fathers were analysed. Maternal plasma fractions were quantified at multiple SNPs, and the ratio of the unique fetal allele signal to the combined maternal and fetal allele signal calculated. The mean ratios of SNPs on chromosomes 13 and 21 were compared to test for potential fetal chromosomal abnormalities. The mean proportion of free fetal DNA was 34.0% (median 32.5%, range 17.0-93.8). We identified three samples with significant differences in the fetal DNA ratios for chromosome 13 and chromosome 21, indicative of trisomy 21; the remaining 57 samples were deemed to be normal. Amniocentesis or newborn reports from the clinical sites confirmed that the copy number of fetal chromosomes 13 and 21 was established correctly for 58 of the 60 samples, identifying 56 of the 57 normal samples, and two of the three trisomy 21 samples. Of the incorrectly identified samples, one was a false negative and one was a false positive. The sensitivity and positive predictive value were both 66.7% (95% CI 12.5-98.2) and the specificity and negative predictive values were both 98.2% (89.4-99.9). The copy number of chromosomes of interest can be directly established from maternal plasma. Such a non-invasive prenatal test could provide a useful complement to currently used screening tests.

  3. Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.

    Science.gov (United States)

    Even-Zohar Gross, Noa; Geva-Eldar, Talia; Pollak, Yehuda; Hirsch, Harry J; Gross, Itai; Gross-Tsur, Varda

    2017-04-01

    Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus. All 85 parents of individuals with PWS were interviewed regarding their attitudes towards PND and TOP using semi-structured questionnaire. Fifty-seven parents were supportive of invasive PND and 28 of non-invasive tests only; none opposed PND. Thirty eight favored TOP, additional 31 supported TOP under certain conditions such as spiritual advice, 15 were categorically against TOP. Attitudes correlated with religiosity (p < 0.025), mother's education (p < 0.001), mother's work status (p < 0.001), current age of the child with PWS (p < 0.008). Couples had similar attitudes regarding PND and TOP. No correlation was found with gender, genetic subtype and parental age. Most parents of individuals with PWS support PND, however less than half support TOP. Religiosity was the most influential factor. Familial worldview should be taken into account during prenatal counseling. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Prenatal RhD Testing : A Review of Studies Published from 2006 to 2008

    NARCIS (Netherlands)

    Legler, Tobias Joerg; Mueller, Sina Patricia; Haverkamp, Alexander; Grill, Simon; Hahn, Sinuhe

    2009-01-01

    The availability of noninvasive prenatal diagnosis for the fetal RhD status (NIPD RhD) is an obvious benefit for alloimmunized pregnant women. This review gives information about the performance characteristics of current diagnostic technologies and recent promising proof-of-principle studies.

  5. Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey

    Directory of Open Access Journals (Sweden)

    Al Sabbah H

    2017-09-01

    Full Text Available Haleama Al Sabbah,1 Sarah Khan,1 Abdallah Hamadna,2 Lamia Abu Ghazaleh,2 Anwar Dudin,2 Bashar Adnan Karmi3 1College of Natural and Health Sciences, Zayed University, Dubai, UAE; 2Faculty of Medicine, An-Najah National University, Nablus, Palestine; 3Thalassemia Patients’ Friends Society, Ramallah, Palestine Purpose: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Methods: Convenience sampling was used to select 32 women (72 fetuses who were at risk of having a baby with β-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. Results: Among the fetuses screened, 36 (50% were thalassemia carriers and 20 (28% had β-thalassemia; 17 (85% affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with β-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05. Conclusion: A religious consensus is needed on the abortion of fetuses affected by β-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of β-thalassemia in Palestine and around the world. Keywords: abortion, Islam, fetus, awareness

  6. A qualitative study looking at informed choice in the context of non‐invasive prenatal testing for aneuploidy

    Science.gov (United States)

    Hill, Melissa; Chitty, Lyn S.

    2016-01-01

    Abstract Objective To explore women's attitudes towards non‐invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT. Method We conducted qualitative interviews to assess knowledge, attitude and deliberation amongst women offered NIPT in a public health service. In total, 45 women took part in telephone interviews (79% participation rate). Results Most women could recount the key aspects of NIPT discussed during pre‐test counselling but had variable knowledge about Down syndrome. Analysis of women's attitudes towards undergoing NIPT revealed three dominant factors they considered when reflecting on the test: (1) how NIPT compared with alternative testing options, (2) reflections on coping and (3) moral or religious values. Exploring the deliberative process revealed the different paths women take when making decisions. For some, it was an extension of the decision to have Down syndrome screening; some considered it early on following the booking‐in appointment; others made step‐wise decisions about NIPT when it became relevant to them. Conclusion Our findings support the importance of personalised counselling, whereby women and their partners have the opportunity to reflect on the implications of the test results in the context of their own lives and values. Our data highlight the influence of personal circumstances on decision‐making. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:27477537

  7. Ethical controversies in prenatal microarray.

    Science.gov (United States)

    Stark, Zornitza; Gillam, Lynn; Walker, Susan P; McGillivray, George

    2013-04-01

    Chromosome microarray (CMA) analysis enables genome interrogation at a much higher resolution than is possible with conventional karyotyping. CMA is considered 'standard of care' for postnatal genetic testing, yet its introduction into the prenatal setting has been delayed, in part because of ethical concerns about possible psychosocial harm and deficits in informed consent. The findings of several large trials have now been reported, allowing preliminary quantification of the relative benefits and harms of CMA in prenatal diagnosis. Qualitative studies have also provided insights into the patient experience particularly in cases in which results of uncertain significance are provided. In an attempt to minimize potential harms, some professional guidelines have suggested limiting access to CMA to patients with fetal abnormality on ultrasound, limiting the diagnostic power of CMA by using targeted platforms or limiting reporting. We provide an overview of the relative benefits and harms of prenatal CMA, and critically examine the strategies proposed to minimize harms in the context of other important ethical issues such as patient autonomy, justice and equity of access. We advocate for improved patient consent, counselling and support so that patients can fully benefit from the improved diagnostic yield of CMA despite the challenges that are intrinsic to the prenatal setting.

  8. Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

    Science.gov (United States)

    Georgsson, Susanne; Sahlin, Ellika; Iwarsson, Moa; Nordenskjöld, Magnus; Gustavsson, Peter; Iwarsson, Erik

    2017-06-01

    Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.

  9. Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center.

    Science.gov (United States)

    Qi, Guijie; Yi, Jianping; Han, Baosheng; Liu, Heng; Guo, Wanru; Shi, Chong; Yin, Lirong

    2016-10-01

    This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups. Follow-up data were obtained from the participants who underwent NIPT from 2013 to 2014.A total of 7223 patients (3018 and 4205 individuals before and after NIPT) were eligible for analysis. After NIPT was introduced in 2013 to 2014, 727 patients (17.3%) underwent invasive testing, 2828 preferred NIPT (67.3%), and 650 declined to undergo further testing (15.5%). A total of 34 cases of trisomies 21, 18, and 13 (0.8%) were found. In 2012 to 2013, 565 patients (18.7%) underwent invasive testing and 2453 declined to undergo further testing (81.3%). A total of 7 cases of trisomies 21, 18, and 13 were documented (0.2%). Of these cases, 24 were found from NIPT and 10 cases were found from invasive testing. The number of participants who declined to undergo further testing significantly decreased after NIPT was introduced (81.3% vs. 15.5%, P NIPT for trisomies 21, 18, and 13 were 100% and 99.9%, respectively. The detection rates of NIPT for trisomies 21, 18, and 13 also significantly increased (0.2% vs. 0.8%, P testing remained unchanged (18.7% vs. 17.3%, P = 0.12). The positive predictive values of NIPT for trisomies 21, 18, and 13 were 100%, 83.3%, and 50.0%, respectively. The false positive rates of NIPT were 0% and 0.04%.With NIPT implementation in clinical practice, the rate of declining a follow-up test among high-risk women was decreased and the detection rate of

  10. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center.

    Science.gov (United States)

    Tan, Yueqiu; Gao, Ya; Lin, Ge; Fu, Meili; Li, Xihong; Yin, Xuyang; Du, Juan; Li, Jing; Li, Wen; Peng, Huanhuan; Yuan, Yuying; Chen, Fang; Jiang, Fuman; Zhang, Hongyun; Lu, Guangxiu; Gong, Fei; Wang, Wei

    2016-07-01

    The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART). In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT for screening for trisomy 21 (T21), 18 (T18), and 13 (T13) by sequencing cell-free DNA in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were interviewed after delivery. Pregnant decision based on NIPT and confirmation results was discussed during post-test counseling. In total of 565 cases, NIPT had a failure rate of 0.9% (5/565). Four cases of T21 were identified by NIPT and confirmed by karyotyping, resulting in 100% (95%CI 39.8%-100%) positive predictive value. Among 556 cases with NIPT negative results, 506 cases (91.0%) were confirmed by follow-up of postnatal phenotypes, while 33 cases (5.9%) had adverse pregnant outcomes with unconfirmed reasons because of the lack of cytogenetic samples. The remaining 17 cases (3.1%) refused follow-up. No false negative result was reported. With apparently high positive predictive value and low false positive rate, NIPT has the potential to be used as a good alternative approach of conventional prenatal screening at the first trimester in ART twin pregnancy. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

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

    Science.gov (United States)

    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

    2015-10-01

    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 results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.

  12. [Performance of prenatal screening by non-invasive cell-free fetal DNA testing for women with various indications].

    Science.gov (United States)

    Zhang, Bin; Pan, Lingyan; Wang, Huiyan; Liu, Jianbing; Lu, Beiyi; Chen, Yingping; Long, Wei; Yu, Bin

    2018-02-10

    OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13. The positive predictive value for trisomies 21 and 18 were 98.25% and 91.67%, respectively. Comparing its performance in intermediate or high risk pregnancies, advanced maternal age pregnancies and volunteering to test pregnancies, the positive predictive value were 100%, 95%, 90% and 50%, respectively. The follow up result was only 1 case of 21 trisomy false negative with high risk. For the 56 cases of trisomy 21, the high risk group accounted for 55%, advanced maternal age accounted for 29%, the intermediate risk referred to 14%, the volunteering to test group accounted for 2%. CONCLUSION The performance of NIPT for trisomies 21, 18 and 13 was satisfactory. The method can be used for women with advanced gestational age. NIPT has offered an ideal secondary screening method for those with an intermediate or high risk, and can reduce the rate of birth defects.

  13. The role of noninvasive prenatal testing as a diagnostic versus a screening tool--a cost-effectiveness analysis.

    Science.gov (United States)

    Ohno, Mika; Caughey, Aaron

    2013-07-01

    As the sensitivity and specificity of noninvasive prenatal testing (NIPT) that uses cell-free fetal DNA in maternal serum to identify Down syndrome (DS) in utero improves, NIPT could be considered a diagnostic test, thus avoiding the complications of chorionic villus sampling or amniocentesis. This study investigates the cost-effectiveness of NIPT as a diagnostic versus a screening tool. A decision-analytic model compared NIPT as a diagnostic tool (NIPT Dx) that did not require a confirmatory amniocentesis versus NIPT used for screening (NIPT Scr) that allowed a confirmatory amniocentesis for screen positive results. Baseline case, univariate, and multivariate sensitivity analyses were performed. For a high-risk population, NIPT Dx would result in three more DS babies born and 2432 more elective terminations compared with NIPT Scr. Furthermore, there would be many more terminations of fetuses without DS with NIPT Dx (2424) than procedure-related losses associated with NIPT Scr (29). NIPT Scr is more expensive but cost-effective at $7687 per quality-associated life year (QALY), less than the standard cost-effectiveness limit of $100 000/QALY. Noninvasive prenatal testing as a screening tool that requires a confirmatory amniocentesis is cost-effective compared with its use as a diagnostic tool and leads to far fewer losses of normal pregnancies. © 2013 John Wiley & Sons, Ltd.

  14. The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.

    Science.gov (United States)

    Beulen, Lean; Grutters, Janneke P C; Faas, Brigitte H; Feenstra, Ilse; van Vugt, John M G; Bekker, Mireille N

    2014-11-01

    Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has been developed for the detection of fetal aneuploidy. Clinical trials have shown high sensitivity and specificity for trisomy 21 (T21) in both high-risk and average-risk populations. Although its great potential for prenatal medicine is evident, more information regarding the consequences of implementing NIPT in a national programme for prenatal screening is required. A decision-analytic model was developed to compare costs and outcomes of current clinical practice in The Netherlands using conventional screening only, with two alternatives: implementing NIPT as an optional secondary screening test for those pregnancies complicated by a high risk for T21, and implementing NIPT as primary screening test, replacing conventional screening. Probability estimates were derived from a systematic review of international literature. Costs were determined from a health-care perspective. Data were analysed to obtain outcomes, total costs, relative costs and incremental cost-effectiveness ratios (ICERs) for the different strategies. Sensitivity analysis was used to assess the impact of assumptions on model results. Implementing NIPT as an optional secondary, or as primary screening test will increase T21 detection rate by 36% (from 46.8% to 63.5%) and 54% (from 46.8% to 72.0%), simultaneously decreasing the average risk of procedure-related miscarriage by 44% (from 0.0168% to 0.0094% per pregnant woman) and 62% (from 0.0168% to 0.0064% per pregnant woman), respectively. None of the strategies clearly dominated: current clinical practice is the least costly, whereas implementing NIPT will cause total costs of the programme to increase by 21% (from €257.09 to €311.74 per pregnant woman), leading to an ICER of k€94 per detected case of T21, when utilised as an optional secondary screening test and by 157% (from €257.09 to €660.94 per pregnant woman), leading to an ICER of k€460 per

  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

  16. 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.M.; van Leeuwen, E.

    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

  17. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing.

    Science.gov (United States)

    Lo, Y M Dennis

    2013-12-01

    The discovery of cell-free fetal DNA in maternal plasma in 1997 has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. Fetal trisomies 21, 18 and 13 are now robustly detectable in maternal plasma and such analyses have been available clinically since 2011. Fetal genome-wide molecular karyotyping and whole-genome sequencing have now been demonstrated in a number of proof-of-concept studies. Genome-wide and targeted sequencing of maternal plasma has been shown to allow the non-invasive prenatal testing of β-thalassaemia and can potentially be generalized to other monogenic diseases. It is thus expected that plasma DNA-based non-invasive prenatal testing will play an increasingly important role in future obstetric care. It is thus timely and important that the ethical, social and legal issues of non-invasive prenatal testing be discussed actively by all parties involved in prenatal care. Copyright © 2013 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  18. Primary HPV testing recommendations of US providers, 2015.

    Science.gov (United States)

    Cooper, Crystale Purvis; Saraiya, Mona

    2017-12-01

    To investigate the HPV testing recommendations of US physicians who perform cervical cancer screening. Data from the 2015 DocStyles survey of U.S. health care providers were analyzed using multivariate logistic regression to identify provider characteristics associated with routine recommendation of primary HPV testing for average-risk, asymptomatic women ≥30years old. The analysis was limited to primary care physicians and obstetrician-gynecologists who performed cervical cancer screening (N=843). Primary HPV testing for average-risk, asymptomatic women ≥30years old was recommended by 40.8% of physicians who performed cervical cancer screening, and 90.1% of these providers recommended primary HPV testing for women of all ages. The screening intervals most commonly recommended for primary HPV testing with average-risk, asymptomatic women ≥30years old were every 3years (35.5%) and annually (30.2%). Physicians who reported that patient HPV vaccination status influenced their cervical cancer screening practices were almost four times more likely to recommend primary HPV testing for average-risk, asymptomatic women ≥30years old than other providers (Adj OR=3.96, 95% CI=2.82-5.57). Many US physicians recommended primary HPV testing for women of all ages, contrary to guidelines which limit this screening approach to women ≥25years old. The association between provider recommendation of primary HPV testing and patient HPV vaccination status may be due to anticipated reductions in the most oncogenic HPV types among vaccinated women. Published by Elsevier Inc.

  19. 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...

  20. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.

    Science.gov (United States)

    Zhang, H; Gao, Y; Jiang, F; Fu, M; Yuan, Y; Guo, Y; Zhu, Z; Lin, M; Liu, Q; Tian, Z; Zhang, H; Chen, F; Lau, T K; Zhao, L; Yi, X; Yin, Y; Wang, W

    2015-05-01

    To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140,000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. Between 1 January 2012 and 31 August 2013, 147,314 NIPT requests to screen for fetal trisomies 21, 18 and 13 using low-coverage whole-genome sequencing of plasma cell-free DNA were received. The results were validated by karyotyping or follow-up of clinical outcomes. NIPT was performed and results obtained in 146,958 samples, for which outcome data were available in 112,669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false negatives were identified, including six cases of trisomy 21 and three of trisomy 18. The overall sensitivity of NIPT was 99.17%, 98.24% and 100% for trisomies 21, 18 and 13, respectively, and specificity was 99.95%, 99.95% and 99.96% for trisomies 21, 18 and 13, respectively. There was no significant difference in test performance between the 72,382 high-risk and 40,287 low-risk subjects (sensitivity, 99.21% vs. 98.97% (P = 0.82); specificity, 99.95% vs. 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal/placental mosaicism, but fetal fraction had no effect. Using a stringent protocol, the good performance of NIPT shown by early validation studies can be maintained in large clinical samples. This technique can provide equally high sensitivity and specificity in screening for trisomy 21 in a low-risk, as compared to high-risk, population. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  1. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.

    Science.gov (United States)

    Grati, Francesca Romana; Barlocco, Andrea; Grimi, Beatrice; Milani, Silvia; Frascoli, Giuditta; Di Meco, Anna Maria; Liuti, Rosaria; Trotta, Anna; Chinetti, Sara; Dulcetti, Francesca; Ruggeri, Anna Maria; De Toffol, Simona; Clementi, Maurizio; Maggi, Federico; Simoni, Giuseppe

    2010-06-01

    During the past 20 years non-invasive screening tests have been increasingly utilized in prenatal diagnosis (PD) practice. Considerable effort has been exerted by multicenter consortia to evaluate the reliability of non-invasive screening tests in detecting those women with an increased risk of having a pregnancy affected by trisomies 21, 18, and 13, monosomy X, and triploidies. To what extent this group of abnormal karyotypes accounts for the total number of phenotypically relevant fetal chromosome abnormalities has, however, never been investigated. The present report is an attempt aimed to quantify this proportion. A retrospective analysis of a homogeneous survey of 115,128 consecutive invasive prenatal tests was undertaken. All cases were classified in accordance with the indication given for the invasive testing. Cytogenetic results regarding 96,416 karyotype analyses performed because of advanced maternal age (>or=35 years) or gestational anxiety (non-invasive screening tests. We calculated the number of cases (T21, T18, T13, 45,X, and triploidy) that would have been detected by prenatal screening on the basis of the published detection rate of the combined-2 test or the quadruple test. Our findings indicate that the chromosomal abnormalities investigated by screening tests represent fetal chromosomal abnormalities associated with an abnormal outcome ranging from intermediate-to-severe in women 50% in women >or=35 years (65.1% and 61.8%, respectively). To conclude, approximately 50% of the phenotypically relevant abnormal karyotypes cannot be detected by non-invasive prenatal screening tests.

  2. Detection of fetal chromosomal anomalies : Does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?

    NARCIS (Netherlands)

    Lichtenbelt, K. D.; Diemel, B. D M; Koster, M. P H; Manten, G. T R; Siljee, J.; Schuring-Blom, G. H.; Page-Christiaens, G. C M L

    2015-01-01

    OBJECTIVES: The objective of this study is to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by non-invasive prenatal testing for trisomies 13, 18, and 21. We focused on the added clinical value of nuchal translucency

  3. Prenatal Group B Streptococcus Test Using Real-Time Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Chi-Feng Wei

    2009-06-01

    Conclusion: It is necessary to perform a GBS test 4 weeks after an initial negative GBS culture at 35–37 weeks of gestation. RT-PCR provides a simple and rapid alternative method for detecting rectovaginal GBS colonization at the time of labor.

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

    Science.gov (United States)

    Mersy, Elke; de Die-Smulders, Christine E M; Coumans, Audrey B C; Smits, Luc J M; de Wert, Guido M W R; Frints, Suzanna G M; Veltman, Joris A

    2015-01-01

    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. Our aim was to aid health policy decision makers by conducting a quantitative analysis of different NIPT implementation strategies. Decision trees were created to illustrate all plausible alternatives in a theoretical cohort of 100,000 pregnant women in five screening programmes: classical screening by the first-trimester combined test (FCT), pre-selection of high-risk women prior to NIPT by the FCT, NIPT as the first screening test at 10 weeks and at 13 weeks, and the simultaneous conductance of NIPT and the FCT. Pre-selection by FCT prior to NIPT reduces the number of amniocenteses to a minimum because of a reduction of false-positive NIPT results. If NIPT is the first screening test, it detects almost all fetal Down syndrome cases. NIPT at 10 weeks reassures women early in pregnancy, while NIPT at 13 weeks prevents unnecessary tests due to spontaneous miscarriages and allows for immediate confirmation by amniocentesis. Every implementation strategy has its advantages and disadvantages. The most favourable implementation strategy may be NIPT as the first screening test at 13 weeks, offering the most accurate screening test for Down syndrome, when the risk for spontaneous miscarriage has declined remarkably and timely confirmation by amniocentesis can be performed. © 2015 S. Karger AG, Basel.

  5. Information provided by diagnostic and screening tests: improving probabilities.

    Science.gov (United States)

    Weatherall, Mark

    2017-11-13

    Uncertainty in clinical encounters is inevitable and despite this uncertainty clinicians must still work with patients to make diagnostic and treatment decisions. Explicit diagnostic reasoning based on probabilities will optimise information in relation to uncertainty. In clinical diagnostic encounters, there is often pre-existing information that reflects the probability any particular patient has a disease. Diagnostic testing provides extra information that refines diagnostic probabilities. However, in general diagnostic tests will be positive in most, but not all cases of disease (sensitivity) and may not be negative in all cases of disease absence (specificity). Bayes rule is an arithmetic method of using diagnostic testing information to refine diagnostic probabilities. In this method, when probabilities are converted to odds, multiplication of the odds of disease before diagnostic testing, by the positive likelihood ratio (LR+), the sensitivity of a test divided by 1 minus the specificity refines the probability of a particular diagnosis. Similar arithmetic applies to the probability of not having a disease, where the negative likelihood ratio is the specificity divided by 1 minus the sensitivity. A useful diagnostic test is one where the LR+ is greater than 5-10. This can be clarified by creating a contingency table for hypothetical groups of patients in relation to true disease prevalence and test performance predicted by sensitivity and specificity. Most screening tests in populations with a low prevalence of disease have a very high ratio of false positive results to true positive results, which can also be illustrated by contingency tables. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  6. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

    DEFF Research Database (Denmark)

    Xu, Yan; Li, Xuchao; Ge, Hui-Juan

    2015-01-01

    Purpose:This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Methods:Eight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data...

  7. Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

    Science.gov (United States)

    Ferreira, Jose Carlos P; Schreiber-Agus, Nicole; Carter, Suzanne M; Klugman, Susan; Gregg, Anthony R; Gross, Susan J

    2014-09-01

    Exciting developments in the fields of genetics and genomics have facilitated the identification of the etiological basis of many Mendelian disorders. Several of the methods used in gene discovery have focused initially on homogeneous populations, including the Ashkenazi Jewish population. The founder effect is well recognized in this community, in which historical events and cultural behaviors have resulted in a limited number of mutations underlying genetic disorders with substantial health impact. New technologies have made it possible to rapidly expand the test panels, changing testing paradigms, and thereby creating challenges for the physician in deciphering the appropriate approach to genetic screening in this population. The goal of this review is to help primary obstetric health care providers navigate through this quickly moving field so as to better counsel and support their patients of Ashkenazi Jewish heritage. Copyright © 2014 Mosby, Inc. All rights reserved.

  8. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis.

    Science.gov (United States)

    Neyt, Mattias; Hulstaert, Frank; Gyselaers, Wilfried

    2014-11-07

    The first- and second-trimester screening for trisomy 21 (T21) are reimbursed for all pregnant women in Belgium. Using a cut-off risk of 1:300 for T21, about 5% of all pregnant women are referred for definitive prenatal diagnosis using an invasive test, at a sensitivity of (only) 72.5%. The sensitivity and specificity of the non-invasive prenatal test (NIPT) are over 99% but come at a cost of €460 (£373) per test. The objective is to estimate the consequences of introducing NIPT for the detection of T21. A cost-consequences analysis was performed presenting the impact on benefits, harms and costs. Context-specific real-world information was available to set up a model reflecting the current screening situation in Belgium. This model was used to construct the second and first line NIPT screening scenarios applying information from the literature on NIPT's test accuracy. Introducing NIPT in the first or second line reduces harm by decreasing the number of procedure-related miscarriages after invasive testing. In contrast with NIPT in the second line, offering NIPT in the first line additionally will miss fewer cases of T21 due to less false-negative test results. The introduction of NIPT in the second line results in cost savings, which is not true for NIPT at the current price in the first line. If NIPT is offered to all pregnant women, the price should be lowered to about €150 to keep the screening cost per T21 diagnosis constant. In Belgium, the introduction and reimbursement of NIPT as a second line triage test significantly reduces procedure-related miscarriages without increasing the short-term screening costs. Offering and reimbursing NIPT in the first line to all pregnant women is preferred in the long term, as it would, in addition, miss fewer cases of T21. However, taking into account the government's limited resources for universal reimbursement, the price of NIPT should first be lowered substantially before this can be realised. Published by the BMJ

  9. Consumerism in prenatal diagnosis: a challenge for ethical guidelines

    Science.gov (United States)

    Henn, W.

    2000-01-01

    The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation (WHO), as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. Key Words: Genetics • prenatal diagnosis • ethics • consumerism PMID:11129845

  10. Maternal prenatal blood mercury is not adversely associated with offspring IQ at 8 years provided the mother eats fish: A British prebirth cohort study.

    Science.gov (United States)

    Golding, Jean; Hibbeln, Joseph R; Gregory, Steven M; Iles-Caven, Yasmin; Emond, Alan; Taylor, Caroline M

    2017-10-01

    Conflicting evidence concerning possible harm from mercury (Hg) in regard to offspring cognition if the woman eats fish has prompted this study to examine evidence from a British pre-birth cohort to investigate the relationship between the two. Pregnant women (median prenatal blood mercury 1.86μg/L) resident in the study area with delivery between April 1991 and December 1992 were followed up and verbal, performance and total intelligence quotient (IQ) of 2062 offspring were measured at age 8. Analysis treated IQ as (a) continuous and (b) the lowest 25% of the distribution. Multiple and logistic regression analyses took account of social and demographic variables. Stratification considered children of fish eaters separately. Before adjustment, mean full-scale IQ increased with increasing Hg (change with 1SD of Hg=+2.02; 95%CI+1.40,+2.64 IQ points; P mercury and offspring IQ appears to be benign provided the mother consumes fish. Copyright © 2017 The Authors. Published by Elsevier GmbH.. All rights reserved.

  11. [Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].

    Science.gov (United States)

    Hernández-Gómez, Mariana; Ramirez-Arroyo, Eva; Meléndez-Hernández, Ricardo; Garduño-Zaraza, Luz Maria; Mayén-Molina, Dora Gilda

    2015-05-01

    Discovery of cell-free fetal DNA (cffDNA) in maternal blood in 1997 by Lo et al. has opened the possibility of a noninvasive prenatal test (NIPT). Currently, it is employed in the analysis of aneuploidies and fetal sex determination. Massive parallel sequencing (MPS) detects the origin of each amplified sequence, and analyses over-representation of sequences or any decrease in the fetal chromosomes in maternal plasma. This technique has been validated and allows assessment of trisomies 13, 18 and 21, obtaining the result in about a week from 10-weeks of gestational age. By using NIPT, we expect a reduction in the number of invasive studies and the risk of fetal loss. To communicate the experience obtained at Genetics Clinic of the Hospital Angeles Lomas, in the use of NIPT by MPS as a method of prenatal screening for aneuploidies and fetal sex determination. A prospective, observational and descriptive study was carried out in order to develop a database of patients who underwent NIPT (Harmony test) from August 2013 to date. Maternal blood samples were analyzed at Ariosa Diagnostics Inc. at San Jose California, USA. Noninvasive prenatal test was applied to 42 patients, with average maternal age of 37.1 years. The percentage of gestational age was 13.3 weeks and of fetal fraction was 12.7%. Two cases of high risk of trisomy 18 and two cases with high risk for X monosomy were obtained. In only one case the test was used for fetal determination, because of a story of Wiskott-Aldrich (W-A) disease. In all cases of low risk, the result was confirmed at birth and fetal sex was consistent with reports of literature. NIPT is currently the screening test with the highest detection rate (greater than 98%, with a false negative rate lesser than 0.5% and a sensitivity and specificity close to 100%), although it can vary from one chromosome to another. It is indicated for women with a result of high risk for trisomy 13, 18 and 21. This test has not been validated for low risk

  12. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis.

    Science.gov (United States)

    Wright, Caroline F; Wei, Yinghui; Higgins, Julian P T; Sagoo, Gurdeep S

    2012-09-01

    Cell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science. Ninety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high. Based on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.

  13. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  14. Prenatal screening: an ethical agenda for the near future.

    Science.gov (United States)

    de Jong, Antina; de Wert, Guido M W R

    2015-01-01

    Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis. © 2014 John Wiley & Sons Ltd.

  15. Midwives' perceptions of communication during videotaped counseling for prenatal anomaly tests: how do they relate to clients' perceptions and independent observations?

    NARCIS (Netherlands)

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

    2015-01-01

    OBJECTIVE: This study aimed to provide insight into Dutch midwives' self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives' self-assessments with clients' perceptions and with observed performance. METHODS: Counseling sessions

  16. Midwives’ perceptions of communication during videotaped counseling for prenatal anomaly tests: How do they relate to clients’ perceptions and independent observations?

    NARCIS (Netherlands)

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

    2015-01-01

    Objective: This study aimed to provide insight into Dutch midwives’ self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives’ self-assessments with clients’ perceptions and with observed performance. Methods: Counseling sessions

  17. Midwives' perceptions of communication during videotaped counseling for prenatal anomaly tests: How do they relate to clients' perceptions and independent observations?

    NARCIS (Netherlands)

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

    2015-01-01

    Objective: This study aimed to provide insight into Dutch midwives' self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives' self-assessments with clients' perceptions and with observed performance. Methods: Counseling sessions

  18. Reconciling ethical and economic conceptions of value in health policy using the capabilities approach: A qualitative investigation of Non-Invasive Prenatal Testing.

    Science.gov (United States)

    Kibel, Mia; Vanstone, Meredith

    2017-12-01

    When evaluating new morally complex health technologies, policy decision-makers consider a broad range of different evaluations, which may include the technology's clinical effectiveness, cost effectiveness, and social or ethical implications. This type of holistic assessment is challenging, because each of these evaluations may be grounded in different and potentially contradictory assumptions about the technology's value. One such technology where evaluations conflict is Non-Invasive Prenatal Testing (NIPT). Cost-effectiveness evaluations of NIPT often assess NIPT's ability to deliver on goals (i.e preventing the birth of children with disabilities) that social and ethical analyses suggest it should not have. Thus, cost effectiveness analyses frequently contradict social and ethical assessments of NIPT's value. We use the case of NIPT to explore how economic evaluations using a capabilities approach may be able to capture a broader, more ethical view of the value of NIPT. The capabilities approach is an evaluative framework which bases wellbeing assessments on a person's abilities, rather than their expressed preferences. It is linked to extra-welfarist approaches in health economic assessment. Beginning with Nussbaum's capability framework, we conducted a directed qualitative content analysis of interview data collected in 2014 from 27 Canadian women with personal experience of NIPT. We found that eight of Nussbaum's ten capabilities related to options, states, or choices that women valued in the context of NIPT, and identified one new capability. Our findings suggest that women value NIPT for its ability to provide more and different choices in the prenatal care pathway, and that a capabilities approach can indeed capture the value of NIPT in a way that goes beyond measuring health outcomes of ambiguous social and ethical value. More broadly, the capabilities approach may serve to resolve contradictions between ethical and economic evaluations of health

  19. Non-invasive prenatal testing (NIPT): Europe's first multicenter post-market clinical follow-up study validating the quality in clinical routine.

    Science.gov (United States)

    Flöck, Anne; Tu, Ngoc-Chi; Rüland, Anna; Holzgreve, Wolfgang; Gembruch, Ulrich; Geipel, Annegret

    2017-11-01

    Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine. The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome. 2232 cases were tested for trisomy 21. Of these, 1946 cases were additionally examined for trisomy 18 and 13. Sensitivity and specificity for trisomy 21 (43/43) and for trisomy 13 (2/2) were 100%, for trisomy 18 the sensitivity was 80% (4/5) with a specificity of 99.8%. Three false-positive results for trisomy 18 were observed (FPR 0.15%). The no-call rate was 0.5%. In this subgroup, 27.3% (3/11) aneuploidies were diagnosed. The rate of invasive procedures was 2.6%. NIPT provides a very high quality for the fetal trisomies 21, 13 and 18 in clinical routine. The results support the recommendation that NIPT should be offered after genetic counseling and only in conjunction with a qualified ultrasound examination.

  20. An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing.

    Science.gov (United States)

    Wang, Ting; He, Quanze; Li, Haibo; Ding, Jie; Wen, Ping; Zhang, Qin; Xiang, Jingjing; Li, Qiong; Xuan, Liming; Kong, Lingyin; Mao, Yan; Zhu, Yijun; Shen, Jingjing; Liang, Bo; Li, Hong

    2016-01-01

    Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1%) in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples), suggesting that it is reliable and robust enough for clinical testing.

  1. An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing.

    Directory of Open Access Journals (Sweden)

    Ting Wang

    Full Text Available Massively parallel sequencing (MPS combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs by sequencing cell-free fetal DNA (cffDNA from maternal plasma, so-called non-invasive prenatal testing (NIPT. However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR and false positive rate (FPR in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1% in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples, suggesting that it is reliable and robust enough for clinical testing.

  2. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon.

    Science.gov (United States)

    Yaron, Yuval

    2016-05-01

    Non-invasive prenatal testing (NIPT) using cell-free DNA in maternal blood is a relatively new screening modality for the common trisomies of chromosomes 21, 18 and 13 and sex chromosome aneuploidies. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. In this review, the clinical implications of NIPT test failures are discussed. A Medline search was performed for all studies on NIPT that include >1000 samples. The failure rates were assessed by technology. Methods based on massive parallel sequencing have been found to have the lowest failure rate (1.58%), while tests based on single-nucleotide polymorphism analysis have the highest failure rate (6.39%). Recent publications suggest that patients who receive a 'no call' result are at increased risk of aneuploidy. Some professional societies have therefore recommended that these patients undergo genetic counseling and be offered invasive diagnostic testing. NIPT technology that has a high failure rate may increase the false positive rates, decrease the positive predictive value, and increase the procedure-related pregnancy loss. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  3. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing.

    Science.gov (United States)

    Kinnings, Sarah L; Geis, Jennifer A; Almasri, Eyad; Wang, Huiquan; Guan, Xiaojun; McCullough, Ron M; Bombard, Allan T; Saldivar, Juan-Sebastian; Oeth, Paul; Deciu, Cosmin

    2015-08-01

    Sufficient fetal DNA in a maternal plasma sample is required for accurate aneuploidy detection via noninvasive prenatal testing, thus highlighting a need to understand the factors affecting fetal fraction. The MaterniT21™ PLUS test uses massively parallel sequencing to analyze cell-free fetal DNA in maternal plasma and detect chromosomal abnormalities. We assess the impact of a variety of factors, both maternal and fetal, on the fetal fraction across a large number of samples processed by Sequenom Laboratories. The rate of increase in fetal fraction with increasing gestational age varies across the duration of the testing period and is also influenced by fetal aneuploidy status. Maternal weight trends inversely with fetal fraction, and we find no added benefit from analyzing body mass index or blood volume instead of weight. Strong correlations exist between fetal fractions from aliquots taken from the same patient at the same blood draw and also at different blood draws. While a number of factors trend with fetal fraction across the cohort as a whole, they are not the sole determinants of fetal fraction. In this study, the variability for any one patient does not appear large enough to justify postponing testing to a later gestational age. © 2015 John Wiley & Sons, Ltd.

  4. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy.

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2016-06-01

    Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to assess informed choice for Down syndrome screening (DSS). We have validated a modified MMIC for NIPT and measured informed choice among women offered NIPT in a public health service. The measure was distributed to women recruited across eight maternity units in the United Kingdom who had accepted DSS. Construct validity was assessed by simultaneously conducting qualitative interviews. Five hundred and eighty-five questionnaires were completed and 45 interviews conducted after blood-draw (or equivalent for those that declined NIPT). The measure demonstrated good internal consistency and internal validity. Results indicate the vast majority of women (89%) made an informed choice; 95% were judged to have good knowledge, 88% had a positive attitude and 92% had deliberated. Of the 11% judged to have made an uninformed choice, 55% had not deliberated, 41% had insufficient knowledge, and 19% had a negative attitude. Ethnicity (OR=2.78, P=0.003) and accepting NIPT (OR=16.05, P=0.021) were found to be significant predictors of informed choice. The high rate of informed choice is likely to reflect the importance placed on the provision of pre-test counselling in this study. It will be vital to ensure that this is maintained once NIPT is offered in routine clinical practice.

  5. Clinical implementation of chromosomal microarray technology in prenatal diagnosis. (Review).

    Science.gov (United States)

    Kang, Ji Un; Koo, Sun Hoe

    2012-12-01

    Chromosomal microarray technology represents the technical convergence of molecular genetics and cytogenetics, and is rapidly revolutionizing modern cytogenetics. Expected genomic aberrations are accurately identified and provide readily interpretable results that are suitable for clinical risk stratification and therapeutic strategies. The application of array technology in prenatal genetic diagnosis provides distinct advantages over conventional cytogenetic analysis in detecting both the majority of microscopic and submicroscopic chromosomal abnormalities. In the last few years, the validity of array technology has become obvious to medical and laboratory communities involved in prenatal diagnostic testing. However, whether or not microarray analysis is sufficient for the detection of cytogenetic abnormalities in prenatal diagnosis and if traditional cytogenetics continue to be important in this new era has yet to be confirmed. In the present study, we systematically reviewed the current status of microarray technology in the identification of pathogenic genomic imbalances and discussed practical considerations for its routine implementation in prenatal diagnosis.

  6. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Paolo Guanciali Franchi

    Full Text Available From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD. The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated, 1:31 to 1:899 (second trimester screening indicated and ≤1:900 (no further action, and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR of 1:11, equivalent to a positive predictive value (PPV of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%. For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.

  7. Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy.

    Science.gov (United States)

    Kim, Sunshin; Jung, HeeJung; Han, Sung Hee; Lee, SeungJae; Kwon, JeongSub; Kim, Min Gyun; Chu, Hyungsik; Chen, Hongliang; Han, Kyudong; Kwak, Hwanjong; Park, Sunghoon; Joo, Hee Jae; Kim, Byung Chul; Bhak, Jong

    2016-04-30

    Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT. However, the approval criteria vary among platforms and countries. This can delay the introduction of such devices and systems to clinics. A comparison of the sensitivity and specificity of two different platforms using the same sequencing chemistry could be useful in NIPT for fetal chromosomal aneuploidies. This would improve healthcare authorities' confidence in decision-making on sequencing-based tests. One hundred and one pregnant women who were predicted at high risk of fetal defects using conventional prenatal screening tests, and who underwent definitive diagnosis by full karyotyping, were enrolled from three hospitals in Korea. Most of the pregnant women (69.79 %) received NIPT during weeks 11-13 of gestation and 30.21 % during weeks 14-18. We used Ion Torrent PGM and Proton semi-conductor-based sequencers with 0.3× sequencing coverage depth. The average total reads of 101 samples were approximately 4.5 and 7.6 M for PGM and Proton, respectively. A Burrows-Wheeler Aligner (BWA) algorithm was used for the alignment, and a z-score was used to decide fetal trisomy 21. Interactive dot diagrams from the sequencing data showed minimal z-score values of 2.07 and 2.10 to discriminate negative versus positive cases of fetal trisomy 21 for the two different sequencing systems. Our z-score-based discrimination method resulted in 100 % positive and negative prediction values for both ion semiconductor PGM and Proton sequencers, regardless of their sequencing chip and chemistry differences. Both platforms performed well at an early stage (11-13 weeks of gestation) compared with previous studies. These results suggested that, using two different sequencers, NIPT to detect fetal trisomy 21 in early pregnancy is accurate and platform

  8. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... you have confirmed your pregnancy with a home pregnancy test. Early and regular prenatal visits help your health ... Gynecologists. (2014). Frequently asked questions. FAQ133. Pregnancy: Routine tests in pregnancy. Retrieved January 5, 2016, from http://www.acog. ...

  9. The Smoking Cessation and Reduction in Pregnancy Treatment (SCRIPT) Adoption Scale: evaluating the diffusion of a tobacco treatment innovation to a statewide prenatal care program and providers.

    Science.gov (United States)

    Windsor, Richard; Cleary, Sean; Ramiah, Kalpana; Clark, Jeannie; Abroms, Lorien; Davis, Amanda

    2013-01-01

    When a new patient education program is being considered for adoption by a public health agency, it is essential to determine provider perceptions of its acceptability for routine use. In 2007, the West Virginia Bureau of Public Health Perinatal Program, Right From The Start (RFTS), decided to adopt the Smoking Cessation and Reduction in Pregnancy Treatment (SCRIPT) Program. RFTS is a statewide perinatal home visitation initiative delivered by designated care coordinators (DCCs). The authors developed the SCRIPT Adoption Scale (SAS) in the absence of a valid instrument to assess the perceived attributes of a tobacco treatment innovation among the RFTS DCC population. They evaluated the validity of the five constructs of the Rogers' Diffusion of Innovations model in an organization (relative advantage, compatibility, complexity, observability, and trialability) to predict SCRIPT use. After reviewing the literature and developing draft SAS forms, 2 expert panel reviews established the face and content validity of a 43-item SAS. It was administered to 90% (85/90) of the RFTS DCC population. Psychometric analyses confirmed the validity and reliability of a 28-item scale. All 28 items had factor loadings greater than 0.40 (range = 0.43-0.81). All SAS subscales were strongly correlated, r = 0.51 to 0.97, supporting the convergent validity of a 5-factor SAS. There was a significant association between the DCC SAS score and DCC SCRIPT Program Implementation Index supporting the SAS convergent (construct) validity (r = 0.38). The SAS internal consistencyr = 0.93 and stabilityr = 0.76. Although 2 specific subscales need to be improved, the SAS can be adapted by prenatal care programs to measure the attributes of adoption of new, evidence-based patient education and counseling methods.

  10. Prenatal HIV testing: the compartmentalization of women's sexual risk exposure and the return of the maternal fetal conflict.

    Science.gov (United States)

    Kelly, Kristin; Hampson, Sarah Cote; Huff, Jamie

    2012-01-01

    The purpose of the researchers in this study was to investigate how women who were being tested for HIV during their pregnancies were evaluating, conceptualizing, and negotiating their risk of infection. The study included two focus groups and 20 in-depth interviews with 30 patients, ages 17-38 years, from diverse ethnic/racial, social, and economic backgrounds. Qualitative analyses of the interview transcripts revealed support for the idea that pregnant women have a responsibility to minimize risks to their fetus, with all interviewees describing actions to minimize those risks while pregnant. Two sub-themes emerged that were related to the presence of differences in how interviewees conceptualized risk depending on the type of risk being discussed. In the case of diet and lifestyle influences, interviewees framed their health and the health of the fetus as connected. In contrast, when the issue of HIV risk and testing was raised, the interviewees described the risk of HIV to themselves and their fetuses as separate concerns and, with few exceptions, reported no effort to reduce the risk of becoming infected while pregnant (beyond consenting to HIV screening while receiving prenatal care). Findings suggest the importance of developing HIV prevention messages that counter the compartmentalization of risk during pregnancy.

  11. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

    Science.gov (United States)

    Badeau, Mylène; Lindsay, Carmen; Blais, Jonatan; Nshimyumukiza, Leon; Takwoingi, Yemisi; Langlois, Sylvie; Légaré, France; Giguère, Yves; Turgeon, Alexis F; Witteman, William; Rousseau, François

    2017-11-10

    Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts. Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Two review authors independently carried out study selection, data extraction and quality assessment (using the QUADAS-2 tool). Where possible, hierarchical models or simpler alternatives were used for meta-analysis. Sixty-five studies of

  12. 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.

  13. Knowledge and future preference of Chinese women in a major public hospital in Hong Kong after undergoing non-invasive prenatal testing for positive aneuploidy screening: a questionnaire survey.

    Science.gov (United States)

    Kou, Kam On; Poon, Chung Fan; Tse, Wai Ching; Mak, Shui Lam; Leung, Kwok Yin

    2015-09-02

    Despite the non-invasive nature of non-invasive prenatal testing (NIPT), there is still a need for a separate informed consent process before testing. The objectives of this study are to assess (a) knowledge and preferences of Chinese women in a major public hospital in Hong Kong who underwent NIPT, and (b) whether their knowledge and preferences differ depending on womens' characteristics and sources of information. Setting: Prenatal diagnosis and counselling clinic. Between February 2012 and September 2013, a questionnaire survey was distributed to all women who underwent NIPT after positive aneuploidy screening. As a pilot study, ten knowledge questions were designed based on the rapid response statement on Prenatal Detection of Down Syndrome using Massively Parallel Sequencing from the International Society for Prenatal Diagnosis in 2011. The source of women's knowledge and their preferences were also evaluated. While conventional screening was publicly funded, NIPT was not. Differences between subgroups were compared using chi square tests and logistic regression analysis. Of 152 women who underwent NIPT, 135 (88.8%) completed their questionnaires. More than 90% of women recognised the possibility of false positive and false negative results. Slightly more than 70% of women knew the inferior sensitivity of NIPT compared to an invasive test, and the possibility of an uninformative test result, but were not aware of the complicated aspects of NIPT. Pregnant women with an advanced level of education or those who underwent NIPT before 15 weeks provided answers that was more accurate by around 10-20% in two to three knowledge questions than those without. These associations were confirmed by multivariate logistic regression analysis. The women received information on NIPT largely from their private doctors (47.4%) and web (41.5%). In their future pregnancies, more women would opt for NIPT (a self-financed item) after positive screening ('free' in a public hospital

  14. Maternal smoking during pregnancy and infant stress response: test of a prenatal programming hypothesis.

    Science.gov (United States)

    Stroud, Laura R; Papandonatos, George D; Rodriguez, Daniel; McCallum, Meaghan; Salisbury, Amy L; Phipps, Maureen G; Lester, Barry; Huestis, Marilyn A; Niaura, Raymond; Padbury, James F; Marsit, Carmen J

    2014-10-01

    Maternal smoking during pregnancy (MSDP) is associated with early and long-term neurobehavioral deficits; however mechanisms remain unknown. We tested the hypothesis that MSDP programs the hypothalamic pituitary adrenocortical (HPA) axis of the offspring leading to adverse outcomes. In an intensive, prospective study, we investigated associations between MSDP and infant cortisol stress response and explored whether alterations in cortisol response were mediated by epigenetic modulation of the placental glucocorticoid receptor gene (NR3C1). Participants were 100 healthy mother-infant pairs (53% MSDP-exposed; 42% female) from a low income, racially/ethnically diverse sample (55% minorities). MSDP was assessed by timeline followback interview verified by saliva and meconium cotinine. Infant cortisol responses to a neurobehavioral exam were assessed seven times over the first postnatal month. Methylation of placental NR3C1 promoter exon 1F was assessed using bisulfite pyrosequencing in a subsample (n=45). MSDP-exposed infants showed significantly and persistently attenuated basal and reactive cortisol levels over the first postnatal month vs. unexposed infants. Exploratory analyses revealed that MSDP was associated with altered methylation of the placental NR3C1 promoter; degree of methylation of the placental NR3C1 was associated with infant basal and reactive cortisol over the first postnatal month and mediated effects of MSDP on infant basal cortisol. Results provide initial support for our hypothesis that MSDP programs offspring HPA (dys)regulation. Epigenetic regulation of placental GR may serve as a novel underlying mechanism. Results may have implications for delineating pathways to adverse outcomes from MSDP. Copyright © 2014 Elsevier Ltd. All rights reserved.

  15. The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.

    Science.gov (United States)

    Erez, A; Plunkett, K; Sutton, V R; McGuire, A L

    2010-07-01

    During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a true case of familial Huntington disease (HD) in which we modified personal details to protect patient's privacy, where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This article discusses the arguments for and against the right not to know of one's carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has served as a model for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient's right to "genetic ignorance", or the right not to know genetic information. (c) 2010 Wiley-Liss, Inc.

  16. Neurobehavioral deficits associated with PCB in 7-year-old children prenatally exposed to seafood neurotoxicants

    DEFF Research Database (Denmark)

    Grandjean, Philippe; Weihe, Pal; Burse, Virly W.

    2001-01-01

    Methylmercury compounds, Neuropsychological tests, Polychlorinated biphenyls, Prenatal exposure delayed effects, Preschool child......Methylmercury compounds, Neuropsychological tests, Polychlorinated biphenyls, Prenatal exposure delayed effects, Preschool child...

  17. Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test.

    Science.gov (United States)

    Zlotogora, Joël

    2002-12-01

    To determine the importance of various factors on the decisions whether to terminate or continue a pregnancy after an abnormal result. The decisions of 1467 women who had an abnormal result after an invasive prenatal test were examined according to their religion, the time of diagnosis and the severity of the disorder. When the examinations were performed by chorionic villus sampling (CVS) among both Jews and non-Jews most of the women opted to terminate the affected pregnancy. After amniocentesis the rate of termination of pregnancy was still very high among cases in which Down syndrome or other significant chromosomal aberrations were diagnosed among Jews. For all the other diagnostic groups either among Jews or non-Jews there was a significant proportion of the cases in which the women decided to continue the pregnancy. A significant exception about the decisions of the couples was in the case of hemoglobinopathy-affected pregnancies among Arabs since both after CVS and amniocentesis many women often decided to continue the pregnancy. The main factor in the decision to terminate or continue the pregnancy is the severity of the disorder diagnosed. However, among Arabs other factors are important, in particular the time at which the diagnosis is made. Copyright 2002 John Wiley & Sons, Ltd.

  18. Counseling for non‐invasive prenatal testing (NIPT): what pregnant women may want to know

    National Research Council Canada - National Science Library

    Oepkes, D; Yaron, Y; Kozlowski, P; Rego de Sousa, M. J; Bartha, J. L; van den Akker, E. S; Dornan, S. M; Krampl‐Bettelheim, E; Schmid, M; Wielgos, M; Cirigliano, V; Di Renzo, G. C; Cameron, A; Calda, P; Tabor, A

    2014-01-01

    ... testing (NIPT), increasingly is being offered by clinicians and requested by pregnant women who want to be informed about the possibility of trisomy 21 in their unborn child. With the first studies suggesting very high accuracy of trisomy 21 detection, there was hope that after decades of searching for this ‘Holy Grail’, a safe blood test could replace c...

  19. Associations among prenatal stress, maternal antioxidant intakes in pregnancy, and child temperament at age 30 months.

    Science.gov (United States)

    Lipton, L R; Brunst, K J; Kannan, S; Ni, Y-M; Ganguri, H B; Wright, R J; Bosquet Enlow, M

    2017-12-01

    Prenatal stress and prenatal nutrition each have demonstrable impact on fetal development, with implications for child neurodevelopment and behavior. However, few studies have examined their joint influences despite evidence of potential interactive effects. We examined associations among prenatal stress, prenatal antioxidant intakes, and child temperament in a sociodemographically diverse pregnancy cohort (N=137 mother-child dyads). In mid-pregnancy, mothers completed an assessment of recent negative life events as a measure of prenatal stress and an assessment of prenatal diet. When the children were 30 months of age, mothers completed the Early Childhood Behavior Questionnaire-Very Short form, which provides scores on child Negative Affectivity, Effortful Control, and Surgency/Extraversion. Linear regressions tested associations between maternal prenatal negative life events and child temperament, and effect modification by maternal prenatal antioxidant intakes (vitamins A, C, and E, magnesium, zinc, selenium, β-carotene). Analyses revealed that increased maternal prenatal negative life events were associated with higher child Negative Affectivity (β=0.08, P=0.009) but not with child Effortful Control (β=-0.03, P=0.39) or Surgency/Extraversion (β=0.04, P=0.14). Prenatal intakes of zinc and selenium modified this effect: Maternal exposure to prenatal negative life events was associated with higher child Negative Affectivity in the presence of lower intakes of zinc and selenium. Modification effects approached significance for vitamins A and C. The results suggest that the combination of elevated stress exposures and lower antioxidant intakes in pregnancy increases the likelihood of heightened child temperamental negative affectivity. Increased antioxidant intakes during pregnancy may protect against influences of prenatal stress on child temperament.

  20. Prenatal screening tests may be a warning for the partial molar ...

    African Journals Online (AJOL)

    . Placental pathologies in early pregnancy may be overlooked, especially in partial molar pregnancy. We are reporting an incorrect preliminary diagnosed case with an increased risk of Down syndrome in her first-trimester screening test due to ...

  1. Non-invasive prenatal testing: a review of international implementation and challenges

    National Research Council Canada - National Science Library

    Allyse, Megan; Minear, Mollie A; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini

    2015-01-01

    .... While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate...

  2. Qualifying choice: ethical reflection on the scope of prenatal screening.

    Science.gov (United States)

    Stapleton, Greg

    2017-06-01

    In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders. In support of this recommendation, the ESHG and ASHG discuss a number of ethical issues on which they prompt further debate: the informational privacy of the future child, the trivialization of abortion, the risk of information overload, and issues of distributive justice. This paper responds to this call with further reflection on each ethical issue and how it relates to the moral justification of providing couples with opportunities for meaningful reproductive choice. The paper concludes that whilst there may be good reasons for qualifying the scope of any unsolicited prenatal screening offer to serious congenital conditions and childhood disorders, if prenatal screening is justified for providing couples with opportunities for meaningful reproductive choice, then health services may have obligations to empower couples with the same opportunity where concerning other conditions.

  3. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Wright Caroline F

    2012-09-01

    Full Text Available Abstract Background Cell-free fetal DNA (cffDNA can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE, EMBASE, the Cochrane library and Web of Science. Results Ninety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7% and mean specificity was 98.9% (95% CI = 98.1% to 99.4%. These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high. Conclusions Based on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.

  4. Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing.

    Science.gov (United States)

    Xiong, Li; Barrett, Angela N; Hua, Rui; Tan, Tuan Zea; Ho, Sherry Sze Yee; Chan, Jerry K Y; Zhong, Mei; Choolani, Mahesh

    2015-03-01

    To develop an accurate non-invasive prenatal test using next generation sequencing (NGS) for HbE and the four most common β-thalassaemia mutations found in South East Asia (namely -28A > G, CD17A > T, CD41/42(-TTCT) and IVS-II-654C > T). Cell-free DNA was extracted from maternal plasma from 83 families where both parents were carriers of the HbE mutation or one of four common β-thalassaemia mutations. Overlapping PCR amplicons covering each mutation were generated, pooled and sequenced using the Illumina MiSeq. Fastq files were analysed to detect inheritance of the paternal mutation. In two cases where the fathers were compound heterozygotes for HbE and -28A > G, the fetus was correctly diagnosed as having inherited one of the paternal mutations. In 35/85 cases, the paternal mutation was not detected, and in 50/85 cases, it was classified as inherited. Overall sensitivity for detection of paternal mutations was 100% (95% CI: 92.4-100%), and specificity was 92.1% (95% CI: 79.2-97.3%). We demonstrated that detection of paternal mutations using NGS can be readily achieved with high sensitivity and specificity, removing the need for an invasive test in 50% of pregnancies at risk of a thalassaemia in cases where the father and mother carry a different mutation. © 2014 John Wiley & Sons, Ltd. © 2014 John Wiley & Sons, Ltd.

  5. Ethical and human rights dimensions in prenatal HIV/AIDS testing ...

    African Journals Online (AJOL)

    Objectives: To evaluate the conflicts between the rights of society and those of mothers-to-be and the unborn, which raise difficult ethical and legal questions regarding decision-making, respect for autonomy, confidentiality, public health and individual rights in an 'opt-out' approach to HIV testing in antenatal care, which ...

  6. Knowledge and future preference of Chinese women in a major public hospital in Hong Kong after undergoing non-invasive prenatal testing for positive aneuploidy screening: a questionnaire survey

    OpenAIRE

    Kou, Kam On; Poon, Chung Fan; Tse, Wai Ching; Mak, Shui Lam; Leung, Kwok Yin

    2015-01-01

    Background Despite the non-invasive nature of non-invasive prenatal testing (NIPT), there is still a need for a separate informed consent process before testing. The objectives of this study are to assess (a) knowledge and preferences of Chinese women in a major public hospital in Hong Kong who underwent NIPT, and (b) whether their knowledge and preferences differ depending on womens? characteristics and sources of information. Methods Setting: prenatal diagnosis and counselling clinic. Betwe...

  7. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test.

    Science.gov (United States)

    Curnow, Kirsten J; Wilkins-Haug, Louise; Ryan, Allison; Kırkızlar, Eser; Stosic, Melissa; Hall, Megan P; Sigurjonsson, Styrmir; Demko, Zachary; Rabinowitz, Matthew; Gross, Susan J

    2015-01-01

    We sought to determine the ability of single-nucleotide polymorphism-based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. This single-nucleotide polymorphism-based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  8. 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

    that it was offered as a routine procedure. Close acquaintance with a person with congenital disability was negatively associated with participation in serum screening and with the intention to terminate pregnancy in case of a detected disability. 27% of women in the serum screening survey and 22% in the ultrasound......, require an adequate process of informed consent. Because the aim of such tests is to detect fetal malformations and syndromes, health care professionals should discuss the implications with women before they decide. Because acquaintance with a disabled person was found to associate with participation...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies....

  9. Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review.

    Science.gov (United States)

    Hayata, Kei; Hiramatsu, Yuji; Masuyama, Hisashi; Eto, Eriko; Mitsui, Takashi; Tamada, Shoko

    2017-04-01

    We experienced a case of advanced maternal age in which a fetus was found to be positive for trisomy 18 at re-examination following indeterminate non-invasive prenatal genetic testing (NIPT), the amniotic fluid chromosomal test revealed a normal karyotype, and confined placental mosaicism (CPM) was observed in an SNP microarray analysis of the placenta. The child was born with no defects or complications. In the present case, the result of the original NIPT at week 15 of pregnancy was indeterminate and the subsequent re-examination result was positive; since the definitive normal diagnosis was not reported until the latter half of week 21, the pregnant patient was subjected to psychological stress for a long period of time. The problem with NIPT is that most of the fetus-derived cell-free DNA in the maternal blood is not derived directly from the fetus but from the villus cells of the placenta, leading to indefinite diagnoses; for that reason, the pregnant patient was subjected to psychological stress for a long period of time. Of the 18,251 cases undergoing NIPT in the past 2 years in Japan, 51 had indeterminate results; this was the second case in which a subsequent re-examination gave a positive result for trisomy 18.

  10. Prenatal programming of postnatal plasticity for externalizing behavior: Testing an integrated developmental model of genetic and temperamental sensitivity to the environment.

    Science.gov (United States)

    Tung, Irene; Morgan, Julia E; Noroña, Amanda N; Lee, Steve S

    2017-12-01

    Although both gene- and temperament-environment interactions contribute to the development of youth externalizing problems, it is unclear how these factors jointly affect environmental sensitivity over time. In a 7-year longitudinal study of 232 children (aged 5-10) with and without ADHD, we employed moderated mediation to test a developmentally sensitive mechanistic model of genetic and temperamental sensitivity to prenatal and postnatal environmental factors. Birth weight, a global measure of the prenatal environment, moderated predictions of child negative emotionality from a composite of dopaminergic polymorphisms (i.e., DRD4 and DAT1), such that birth weight inversely predicted negative emotionality only for children with genetic plasticity. Negative emotionality, in turn, predicted externalizing behavior 4-5 years later, beyond genetic and postnatal parenting effects. Finally, birth weight moderated the indirect effect of dopaminergic genotypes on externalizing problems through negative emotionality, partially supporting a prenatal programming model. We discuss theoretical and empirical implications for models of environmental sensitivity. © 2017 Wiley Periodicals, Inc.

  11. Behavioural Outcomes of Four-Year-Old Children Prenatally Exposed to Methadone or Buprenorphine: A Test of Three Risk Models

    Science.gov (United States)

    Konijnenberg, Carolien; Lund, Ingunn Olea; Melinder, Annika

    2015-01-01

    It is still under debate whether the reported effects of opioid maintenance therapy (OMT) on child behaviour are a direct effect of prenatal exposure, or whether other factors are involved. This prospective cohort study investigated three models: the teratogenic risk model, the maternal risk model, and a combined risk model in a group of 35…

  12. Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.

    Science.gov (United States)

    Zelig, Craig M; Knutzen, Dana M; Ennen, Christopher S; Dolinsky, Brad M; Napolitano, Peter G

    2016-05-01

    With the increased accuracy of non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) techniques, the likelihood of false-positive screening results has been reduced for high-risk populations. Following a positive screening test, a diagnostic procedure to confirm the result is strongly recommended, although some patients have terminated pregnancies because of a positive NIPT alone. Chorionic villus sampling (CVS), the diagnostic procedure of choice in the first trimester, is not available in all locations. Amniocentesis before 15 weeks, referred to as early amniocentesis (EA), is associated with a 1% rate of talipes and an increased rate of early pregnancy loss compared with CVS. Our objective was to compare the level of risk for euploid pregnancies following a positive NIPT based on the invasive procedure chosen. Using data from a 2003 meta-analysis, we estimated the rates of adverse pregnancy outcome in euploid pregnancies based on the positive predictive value (PPV) of NIPT and the invasive procedure used-that is, CVS, EA, or termination of pregnancy (TOP). Following NIPT, we found that the rate of adverse fetal outcomes in euploid pregnancies was lower for CVS than for EA at all PPV levels. As the PPV of NIPT increased, the difference in risk between EA and CVS decreased. The risk to euploid pregnancies of TOP was excessive at all PPVs. CVS is the recommended diagnostic test in the first trimester because it is safer than EA for the fetus. However, EA is better than no testing when early TOP is planned. Patients should be strongly counselled against TOP without confirmatory testing. Copyright © 2016. Published by Elsevier Inc.

  13. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

    OpenAIRE

    Willems, P.J.; Dierickx, H.; Vandenakker, ES.; Bekedam, D.; Segers, N.; Deboulle, K.; Vereecken, A.

    2014-01-01

    As the classical first trimester Down syndrome screening (FTS, combination test) has a false-negative rate of 20-25% and > 95% of the abnormal FTS results are false-positive, we evaluated the new Non-Invasive Prenatal Test (NIPT) in Belgium and the Netherlands. The study population consisted of 3000 consecutive pregnancies in Belgium and the Netherlands in which NIPT was performed using the Harmony test. In 57 (1.9%) of the 3000 pregnancies an abnormal NIPT result was found. This included 51 ...

  14. Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.

    Science.gov (United States)

    Papageorghiou, A T; Khalil, A; Forman, M; Hulme, R; Mazey, R; Mousa, H A; Johnstone, E D; McKelvey, A; Cohen, K E; Risley, M; Denman, W; Kelly, B

    2016-02-01

    To evaluate the clinical accuracy of the IONA® test for aneuploidy screening. This was a multicenter blinded study in which plasma samples from pregnant women at increased risk of trisomy 21 underwent cell-free DNA analysis utilizing the IONA test. For each sample, the IONA software generated a likelihood ratio and a maternal age-adjusted probability risk score for trisomies 21, 18 and 13. All results from the IONA test were compared against accepted diagnostic karyotyping. A total of 442 maternal samples were obtained, of which 437 had test results available for analysis and assessment of clinical accuracy. The IONA test had a detection rate of 100% for trisomies 21 (n = 43; 95% CI, 87.98-100%), 18 (n = 10; 95% CI, 58.72-100%) and 13 (n = 5; 95% CI, 35.88-100%) with cut-offs applied to likelihood ratio (cut-off > 1 considered high risk for trisomy) and probability risk score incorporating adjustment for maternal age (cut-off ≥ 1/150 considered high risk for trisomy). The false-positive rate (FPR) was 0% for trisomies 18 and 13 with both analysis outputs. For trisomy 21, a FPR of 0.3% was observed for the likelihood ratio, but became 0% with adjustment for maternal age. This study indicates that the IONA test is suitable for trisomy screening in a high-risk screening population. The result-interpretation feature of the IONA software should facilitate wider implementation, particularly in local laboratories, and should be a useful addition to the current screening methods for trisomies 21, 18 and 13. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  15. Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.

    Science.gov (United States)

    Oxenford, Kerry; Daley, Rebecca; Lewis, Celine; Hill, Melissa; Chitty, Lyn S

    2017-04-27

    The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service. Training was evaluated using a mixed methods approach that included quantitative questionnaires at three time points and post-training qualitative interviews. The questionnaires measured confidence, self-perceived knowledge and actual knowledge about NIPT for Down syndrome. Interviews explored opinions about the training and experiences of offering NIPT. The training provided to the health professionals was found to positively impact on their confidence in discussing NIPT with women in their clinic, and both their perceived and actual knowledge and understanding of NIPT was improved. Knowledge remained weak in four areas; cell-free fetal DNA levels increase with gestation; turnaround time for NIPT results; cell-free fetal DNA is placental in origin; and NIPT false positive rate. Training materials, including a lesson plan, PowerPoint presentation and written factsheet on NIPT, have been developed and evaluated for use in educating midwives and supporting the introduction of NIPT. Implementation of training should include a greater focus on the areas where knowledge remained low. Some groups of midwives will need additional training or support to optimise their confidence in discussing NIPT with women.

  16. Respiratory sinus arrhythmia moderates the impact of maternal prenatal anxiety on infant negative affectivity.

    Science.gov (United States)

    Peltola, Mikko J; Mäkelä, Tiina; Paavonen, E Juulia; Vierikko, Elina; Saarenpää-Heikkilä, Outi; Paunio, Tiina; Hietanen, Jari K; Kylliäinen, Anneli

    2017-03-01

    Maternal prenatal anxiety is associated with infants' temperamental negative affectivity (NA), but it is unclear to what extent children vary in their susceptibility to prenatal influences. We tested a hypothesis that infants' respiratory sinus arrhythmia (RSA), an index of parasympathetic vagal tone and a potential marker of differential susceptibility to environmental influences, moderates the effects of maternal prenatal anxiety on the development of infant NA. Prenatal anxiety was assessed during the last trimester of pregnancy in a low-risk community sample. Infant NA, baseline RSA, and maternal postnatal anxiety were assessed at 8-10 months of infant age. Regression analyses were performed to predict infant NA on the basis of prenatal anxiety, infant baseline RSA, and their interaction (N = 173). Maternal prenatal anxiety and infant RSA interactively predicted infant NA at 8-10 months. Among infants with high RSA, a significant positive association between prenatal anxiety and infant NA was observed, whereas prenatal anxiety did not predict infant NA among infants with low RSA. Vagal tone, as indexed by baseline RSA, may provide a promising marker of differential susceptibility to the long-term effects of varying intrauterine conditions. © 2016 Wiley Periodicals, Inc.

  17. Prenatal Testing - Multiple Languages

    Science.gov (United States)

    ... Hindi (हिन्दी) Japanese (日本語) Korean (한국어) Levantine (Arabic dialect) (Levantine Arabic) Modern Standard Arabic (al-ʻArabīyat ul- ... Russian (Русский) Somali (Af-Soomaali ) Spanish (español) Sudanese (Arabic dialect) (Sudanese Arabic) Ukrainian (українська ) Vietnamese (Tiếng Việt) HealthReach ...

  18. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands.

    Science.gov (United States)

    Willems, P J; Dierickx, H; Vandenakker, Es; Bekedam, D; Segers, N; Deboulle, K; Vereecken, A

    2014-01-01

    As the classical first trimester Down syndrome screening (FTS, combination test) has a false-negative rate of 20-25% and > 95% of the abnormal FTS results are false-positive, we evaluated the new Non-Invasive Prenatal Test (NIPT) in Belgium and the Netherlands. The study population consisted of 3000 consecutive pregnancies in Belgium and the Netherlands in which NIPT was performed using the Harmony test. In 57 (1.9%) of the 3000 pregnancies an abnormal NIPT result was found. This included 51 fetuses with trisomy 21, 4 fetuses with trisomy 18 and 2 fetuses with trisomy 13. In 47 of the 57 the NIPT result was confirmed by genetic testing of material obtained by amniocentesis or chorionic biopsy, and no false-positive results were recorded. The false-negative rate as determined on more than 2000 women that had delivered at the time of reporting was low, and so far only 2 false-negative results were reported (one trisomy 18 and one trisomy 21). The failure rate where no NIPT result could be obtained after repeated sampling was 0.90%. In this large clinical series, NIPT using the Harmony test proves to be a very reliable prenatal test to detect fetal trisomies 21, 18 and 13 in maternal blood in Belgium and the Netherlands.

  19. Women's health as an ideological and political issue: Restricting the right to abortion, access to in vitro fertilization procedures, and prenatal testing in Poland.

    Science.gov (United States)

    Żuk, Piotr; Żuk, Paweł

    2017-07-01

    The authors describe the problems of women in Poland, who have limited access to abortion, in vitro fertilization procedures, and prenatal tests. The current situation stems from ideological pressure, which affects women's health issues. This is part of a broader syndrome of the conservative approach to women's health in Eastern Europe, as well as the factor that strengthens the extreme right in Europe. As women's sexual health is demonized, women less often undergo preventive examinations. Making the debate about health more rational requires radical sociocultural changes in this part of the world.

  20. 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. © 2014 John Wiley & Sons Ltd.

  1. Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.

    Science.gov (United States)

    Janssens, Katrien; Deiteren, Kathleen; Verlinden, Anke; Rooms, Liesbeth; Beckers, Sigri; Holmgren, Philip; Vermeulen, Katrien; Maes, Marie-Berthe; Mortier, Geert; Blaumeiser, Bettina

    2016-08-01

    Non-invasive prenatal tests (NIPTs) interrogating the complete genome are able to detect not only fetal trisomy 13, 18 or 21 but additionally provide information on other (sub)chromosomal aberrations that can be fetal or maternal in origin. We demonstrate that in a subset of cases, this information is clinically relevant and should be reported to ensure adequate follow-up. Genome-wide NIPT was carried out and followed by a software analysis pipeline optimized to detect subchromosomal aberrations. The NIPT profile showed deletions on chromosomes 9 and 22: NIPT 9q33.3q34.12(129150001-133750000)x1,22q11.23(23550001-25450000)x1,22q13.1(37850001-39600000)x1. This result was confirmed by single nucleotide polymorphism array on maternal genomic DNA, which also demonstrated that the deletions were somatic in nature. Fluorescence in situ hybridization and quantitative real-time polymerase chain reaction revealed that the deletions were flanking the translocation breakpoint on the derivative chromosome 9 as the result of a t(9;22)(q34;q11.2) translocation with BCR-ABL1 fusion typical for chronic myeloid leukaemia (CML). Multidisciplinary counselling, together with complete blood count, taught that the woman was in an early chronic phase CML. The woman was followed up closely, and treatment could be postponed until after delivery. Genome-wide NIPT identified a CML in chronic phase caused by the typical t(9;22)(q34;q11.2) translocation and accompanied by deletions flanking the translocation breakpoints. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  2. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.

    Science.gov (United States)

    Alberti, A; Salomon, L J; Le Lorc'h, M; Couloux, A; Bussières, L; Goupil, S; Malan, V; Pelletier, E; Hyon, C; Vialard, F; Rozenberg, P; Bouhanna, P; Oury, J F; Schmitz, T; Romana, S; Weissenbach, J; Vekemans, M; Ville, Y

    2015-05-01

    By-the-book implementation of non-invasive prenatal test and clinical validation for trisomy 21. Publicly funded prospective study of 225 cases. Women at risk for trisomy 21 > 1/250 based on combined ultrasound and serum markers during first or second trimester were eligible following an informed consent. The technique was established from the available literature and performed on 10 mL of venous blood collected prior to chorionic villus sampling or amniocentesis. Investigators were blinded to the fetal karyotype. Results were expressed in Z-scores of the percentage of each chromosome. Among 976 eligible cases, 225 were processed: 8 were used for pretesting phase and 23 to build a reference set. One hundred thirty six euploid cases and 47 with trisomy 21 were then run randomly. Eleven cases yielded no result (4.8%). Z-scores were above 3 (7.58+/-2.41) for chromosome 21 in all 47 trisomies and in none of the euploid cases (0.11+/-1.0). Z-scores were within normal range for the other chromosomes in both groups. Using a cut-off of 3, sensitivity and specificity were of 100% 95% CI [94.1, 100] and 100% 95% CI [98, 100], respectively. Non-invasive prenatal test for trisomy 21 is a robust strategy that can be translated from seminal publications. Publicly funded studies should refine its indications and cost-effectiveness in prenatal screening and diagnosis. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

  3. Motivations for Undertaking DNA Sequencing-Based Non-Invasive Prenatal Testing for Fetal Aneuploidy: A Qualitative Study with Early Adopter Patients in Hong Kong

    Science.gov (United States)

    Yi, Huso; Hallowell, Nina; Griffiths, Sian; Yeung Leung, Tak

    2013-01-01

    Background A newly introduced cell-free fetal DNA sequencing based non-invasive prenatal testing (DNA-NIPT) detects Down syndrome with sensitivity of 99% at early gestational stage without risk of miscarriage. Attention has been given to its public health implications; little is known from consumer perspectives. This qualitative study aimed to explore women’s motivations for using, and perceptions of, DNA-NIPT in Hong Kong. Methods and Findings In-depth interviews were conducted with 45 women who had undertaken DNA-NIPT recruited by purposive sampling based on socio-demographic and clinical characteristics. The sample included 31 women identified as high-risk from serum and ultrasound based Down syndrome screening (SU-DSS). Thematic narrative analysis examined informed-decision making of the test and identified the benefits and needs. Women outlined a number of reasons for accessing DNA-NIPT: reducing the uncertainty associated with risk probability-based results from SU-DSS, undertaking DNA-NIPT as a comprehensive measure to counteract risk from childbearing especially at advanced age, perceived predictive accuracy and absence of risk of harm to fetus. Accounts of women deemed high-risk or not high-risk are distinctive in a number of respects. High-risk women accessed DNA-NIPT to get a clearer idea of their risk. This group perceived SU-DSS as an unnecessary and confusing procedure because of its varying, protocol-dependent detection rates. Those women not deemed high-risk, in contrast, undertook DNA-NIPT for psychological assurance and to reduce anxiety even after receiving the negative result from SU-DSS. Conclusions DNA-NIPT was regarded positively by women who chose this method of screening over the routine, less expensive testing options. Given its perceived utility, health providers need to consider whether DNA-NIPT should be offered as part of universal routine care to women at high-risk for fetal aneuploidy. If this is the case, then further development

  4. Motivations for undertaking DNA sequencing-based non-invasive prenatal testing for fetal aneuploidy: a qualitative study with early adopter patients in Hong Kong.

    Science.gov (United States)

    Yi, Huso; Hallowell, Nina; Griffiths, Sian; Yeung Leung, Tak

    2013-01-01

    A newly introduced cell-free fetal DNA sequencing based non-invasive prenatal testing (DNA-NIPT) detects Down syndrome with sensitivity of 99% at early gestational stage without risk of miscarriage. Attention has been given to its public health implications; little is known from consumer perspectives. This qualitative study aimed to explore women's motivations for using, and perceptions of, DNA-NIPT in Hong Kong. In-depth interviews were conducted with 45 women who had undertaken DNA-NIPT recruited by purposive sampling based on socio-demographic and clinical characteristics. The sample included 31 women identified as high-risk from serum and ultrasound based Down syndrome screening (SU-DSS). Thematic narrative analysis examined informed-decision making of the test and identified the benefits and needs. Women outlined a number of reasons for accessing DNA-NIPT: reducing the uncertainty associated with risk probability-based results from SU-DSS, undertaking DNA-NIPT as a comprehensive measure to counteract risk from childbearing especially at advanced age, perceived predictive accuracy and absence of risk of harm to fetus. Accounts of women deemed high-risk or not high-risk are distinctive in a number of respects. High-risk women accessed DNA-NIPT to get a clearer idea of their risk. This group perceived SU-DSS as an unnecessary and confusing procedure because of its varying, protocol-dependent detection rates. Those women not deemed high-risk, in contrast, undertook DNA-NIPT for psychological assurance and to reduce anxiety even after receiving the negative result from SU-DSS. DNA-NIPT was regarded positively by women who chose this method of screening over the routine, less expensive testing options. Given its perceived utility, health providers need to consider whether DNA-NIPT should be offered as part of universal routine care to women at high-risk for fetal aneuploidy. If this is the case, then further development of guidelines and quality assurance will be

  5. Motivations for undertaking DNA sequencing-based non-invasive prenatal testing for fetal aneuploidy: a qualitative study with early adopter patients in Hong Kong.

    Directory of Open Access Journals (Sweden)

    Huso Yi

    Full Text Available BACKGROUND: A newly introduced cell-free fetal DNA sequencing based non-invasive prenatal testing (DNA-NIPT detects Down syndrome with sensitivity of 99% at early gestational stage without risk of miscarriage. Attention has been given to its public health implications; little is known from consumer perspectives. This qualitative study aimed to explore women's motivations for using, and perceptions of, DNA-NIPT in Hong Kong. METHODS AND FINDINGS: In-depth interviews were conducted with 45 women who had undertaken DNA-NIPT recruited by purposive sampling based on socio-demographic and clinical characteristics. The sample included 31 women identified as high-risk from serum and ultrasound based Down syndrome screening (SU-DSS. Thematic narrative analysis examined informed-decision making of the test and identified the benefits and needs. Women outlined a number of reasons for accessing DNA-NIPT: reducing the uncertainty associated with risk probability-based results from SU-DSS, undertaking DNA-NIPT as a comprehensive measure to counteract risk from childbearing especially at advanced age, perceived predictive accuracy and absence of risk of harm to fetus. Accounts of women deemed high-risk or not high-risk are distinctive in a number of respects. High-risk women accessed DNA-NIPT to get a clearer idea of their risk. This group perceived SU-DSS as an unnecessary and confusing procedure because of its varying, protocol-dependent detection rates. Those women not deemed high-risk, in contrast, undertook DNA-NIPT for psychological assurance and to reduce anxiety even after receiving the negative result from SU-DSS. CONCLUSIONS: DNA-NIPT was regarded positively by women who chose this method of screening over the routine, less expensive testing options. Given its perceived utility, health providers need to consider whether DNA-NIPT should be offered as part of universal routine care to women at high-risk for fetal aneuploidy. If this is the case, then

  6. [Ethical aspects of prenatal screening for Down's syndrome].

    Science.gov (United States)

    Tóth, A; Szabó, J

    2000-10-15

    Trisomy 21, the chromosomal base of Down's syndrome, results in severe mental and physical handicap. Owing to the development of medical genetics reliable screening and diagnostic procedures for the detection of the disorder are available in Hungary. To achieve the goals of prenatal screening it is important to address the main ethical issues arising through the application of technical-professional skills. The core objective of prenatal screening for Down's syndrome is to give information about the genetic condition of the fetus in order to enhance the autonomy of the parents in family planning. Screening programs should respect the ethical requirements of the principles of "do no harm", beneficence and autonomy of the patients, which are the most important ethical norms of doctor-patient relationship. Regarding the social aspects of screening it is essential to claim that voluntary participation and nondirective genetic counselling can exclude eugenic purposes. Though introduction of prenatal tests does not imply the discrimination of the disabled, anxiety of handicapped people deserves more attention. Abortion of affected fetuses isn't among the objectives of prenatal genetic screening but patient's autonomy is supported in decisions concerning the future of the pregnancy. Social justice can be taken into consideration by providing the test to all women without respect to their social position, educational level or their age. An open debate about the issues of prenatal screening for Down's syndrome could promote the formation of a consensus between professionals and the public.

  7. PRENATAL DIAGNOSTICS

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    Slavica Loncar

    2008-04-01

    Full Text Available Pregnancy is an exquisite period of life rich in physical and emotional changes. The beginning of new life is exciting not only for future parents but also for the doctor following and supervising the development and growth of a new human being up to its birth after forty weeks of pregnancy. There are many questions, fears and concerns which rise over and over again during this long but also short period of time. However, the consoling truth is that pregnancy has never been as safe as nowadays. Never before in the history of obstetrics have the babies had so many chances to be born alive and healthy. Unnecessary fears can make pregnancy an upsetting event. To prevent it, pregnant woman should be educated and advised on the possibilities of modern prenatal medicine and directed to choose the best ways of prenatal medicine to solve their dilemmas. The aim of this paper was to help pregnant woman and her doctor to find the appropriate treatment in every single case.

  8. Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    Science.gov (United States)

    Vialard, F; Simoni, G; Aboura, A; De Toffol, S; Molina Gomes, D; Marcato, L; Serero, S; Clement, P; Bouhanna, P; Rouleau, E; Grimi, B; Selva, J; Gaetani, E; Maggi, F; Joseph, A; Benzacken, B; Grati, F R

    2011-05-01

    Molecular cytogenetic techniques on uncultured prenatal samples are the sole tests applied in some countries in cases with advanced maternal age (AMA) or increased risk after prenatal screening. Moreover, there is a trend to perform invasive prenatal diagnosis (PD) during the first trimester before ultrasound manifestations, so new rapid and reliable assays are necessary to investigate microdeletions not detectable with the conventional karyotype. We report the validation study of the prenatal bacterial artificial chromosomes-on-Beads™ (BoBs™ ; CE-IVD), a bead-based multiplex assay detecting chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions having an overall detection rate of 1/1700. We retrospectively studied 408 selected samples and prospectively tested 212 consecutive samples ascertained for conventional karyotyping. We did not find false-positive results. Triploidies were not detected. Maternal cell contamination of male samples up to 90% was unmasked inspecting gonosome profiles. Mosaic conditions at 20 to 30% were revealed. Failures were due to low amount of DNA. Prenatal BoBs™ is a robust technology for the investigation of fetuses with normal karyotype with or without sonographic abnormalities. Running in parallel with the karyotype analysis, it can be proposed instead of rapid FISH or QF-PCR providing rapid results on common aneuploidies and additional information regarding the microdeletion syndromes. Copyright © 2011 John Wiley & Sons, Ltd.

  9. Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population.

    Science.gov (United States)

    McLennan, Andrew; Palma-Dias, Ricardo; da Silva Costa, Fabricio; Meagher, Simon; Nisbet, Debbie L; Scott, Fergus

    2016-02-01

    There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  10. 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.

  11. Testing the Feasibility of Remote Patient Monitoring in Prenatal Care Using a Mobile App and Connected Devices: A Prospective Observational Trial.

    Science.gov (United States)

    Marko, Kathryn I; Krapf, Jill M; Meltzer, Andrew C; Oh, Julia; Ganju, Nihar; Martinez, Anjali G; Sheth, Sheetal G; Gaba, Nancy D

    2016-11-18

    Excessive weight gain and elevated blood pressure are significant risk factors for adverse pregnancy outcomes such as gestational diabetes, premature birth, and preeclampsia. More effective strategies to facilitate adherence to gestational weight gain goals and monitor blood pressure may have a positive health benefit for pregnant women and their babies. The impact of utilizing a remote patient monitoring system to monitor blood pressure and weight gain as a component of prenatal care has not been previously assessed. The objective of this study is to determine the feasibility of monitoring patients remotely in prenatal care using a mobile phone app and connected digital devices. In this prospective observational study, 8 women with low risk pregnancy in the first trimester were recruited at an urban academic medical center. Participants received a mobile phone app with a connected digital weight scale and blood pressure cuff for at-home data collection for the duration of pregnancy. At-home data was assessed for abnormal values of blood pressure or weight to generate clinical alerts to the patient and provider. As measures of the feasibility of the system, participants were studied for engagement with the app, accuracy of remote data, efficacy of alert system, and patient satisfaction. Patient engagement with the mobile app averaged 5.5 times per week over the 6-month study period. Weight data collection and blood pressure data collection averaged 1.5 times and 1.1 times per week, respectively. At-home measurements of weight and blood pressure were highly accurate compared to in-office measurements. Automatic clinical alerts identified two episodes of abnormal weight gain with no false triggers. Patients demonstrated high satisfaction with the system. In this pilot study, we demonstrated that a system using a mobile phone app coupled to remote monitoring devices is feasible for prenatal care.

  12. Concept analysis: prenatal obesity, a psychoneuroimmunology perspective.

    Science.gov (United States)

    Ruyak, Sharon L; Corwin, Elizabeth

    2013-01-01

    To analyze the concept of prenatal obesity within a psychoneuroimmunology framework. By considering the psychosocial, neurological, endocrine, and immunological contributions, a psychoneuroimmunology framework maintains a holistic focus. Identifying the multidirectional mechanisms linking these systems will provide valuable insight into the mechanisms by which prenatal obesity increases the rate of adverse pregnancy outcomes. Utilization of the concept of prenatal obesity within a psychoneuroimmunology framework will facilitate multidisciplinary research to identify underlying mechanisms by which prenatal obesity leads to adverse pregnancy outcomes, as well as the development of interventions to treat obesity before, during, and after pregnancy. © 2013 Wiley Periodicals, Inc.

  13. Control Prenatal

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    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.

  14. Mutation, detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs

    Energy Technology Data Exchange (ETDEWEB)

    Vielhaber, E.; Sommer, S.S. [Mayo Clinic/Foundation, Rochester, MN (United States); Freedenberg, D. [Scott and White Clinic, Temple, TX (United States)

    1994-01-15

    Hemophilia B is an X-linked recessive disorder affecting 1 in 30,000 males. Determination of carrier status for at risk females can be done by utilizing indirect methods such as DNA sequencing. However, in most cases, reliable carrier testing is not possible without first analyzing the DNA from an affected male in the family to determine his haplotype/causative sequence change. In the case presented here, the only affected male in the family has been deceased for 25 years; no DNA was available from him. The sister (III-2) of the affected individual was a suspected carrier based on her factor IX coagulant (36%); she was pregnant with a male fetus, and requested prenatal testing. 6 refs., 2 figs.

  15. PTC test bed upgrades to provide ACSES testing support capabilities at transportation technology center.

    Science.gov (United States)

    2015-06-01

    FRA Task Order 314 upgraded the Positive Train Control (PTC) Test Bed at the Transportation Technology Center to support : testing of PTC systems, components, and related equipment associated with the Advanced Civil Speed Enforcement System : (ACSES)...

  16. Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

    Directory of Open Access Journals (Sweden)

    Celine Lewis

    Full Text Available Non-invasive prenatal testing (NIPT for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women's experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150 or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners. In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%. Decisional conflict occurred in a minimal number of cases (3.8%, however, none of the participants experienced decisional regret. Around a third (29.9% of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk, a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part

  17. Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Chitty, Lyn S.

    2016-01-01

    Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women’s experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150) or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners). In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%). Decisional conflict occurred in a minimal number of cases (3.8%), however, none of the participants experienced decisional regret. Around a third (29.9%) of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk), a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part of NHS

  18. Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Chitty, Lyn S

    2016-01-01

    Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women's experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150) or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners). In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%). Decisional conflict occurred in a minimal number of cases (3.8%), however, none of the participants experienced decisional regret. Around a third (29.9%) of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk), a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part of NHS

  19. Prenatal diagnosis of inherited metabolic diseases.

    OpenAIRE

    Diukman, R; Goldberg, J D

    1993-01-01

    Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.

  20. Atención prenatal en el primer nivel de atención: características de los proveedores que influyen en la satisfacción de las usuarias Prenatal care in the primary level of healthcare: provider characteristics which influence users' satisfaction

    Directory of Open Access Journals (Sweden)

    Mario Norberto Bronfman-Pertzovsky

    2003-12-01

    by prenatal care users in primary health services in Mexico, and to compare the level of satisfaction according to characteristics of the provider and the service. MATERIAL AND METHODS: A cross-sectional survey was conducted to analyze data from 217 care provider-user pairs. Interviews were carried out in 95 primary care units in eight Mexican states. The information was collected through a direct observation of the medical encounter, b interviews with providers and users, and c a questionnaire and knowledge examination to providers. Users' satisfaction was analyzed according to providers' clinical ability and the treatment received during the visit. Summary and dispersion measures of the main issues were calculated, as well as bivariate and trends analysis. RESULTS: User satisfaction in prenatal care is associated with the treatment received during the visit and to the waiting time before being attended, but not with the provider's clinical ability, nor with his or her age or gender. The treatment received during the visit was also associated with the user's socioeconomic level, where the poorer users received the worst treatment. CONCLUSIONS: Health services should assess users' satisfaction according with the type of medical encounter, particularly where resources are scarce and where economic disparities are present. In such cases, the provision of healthcare services may intensify inequality, with greater impact on the poorest.

  1. Prenatal diagnosis: molecular genetics and cytogenetics.

    Science.gov (United States)

    Bui, The-Hung; Blennow, Elisabeth; Nordenskjöld, Magnus

    2002-10-01

    The technologies developed for the Human Genome Project, the recent surge of available DNA sequences resulting from it and the increasing pace of gene discoveries and characterization have all contributed to new technical platforms that have enhanced the spectrum of disorders that can be diagnosed prenatally. The importance of determining the disease-causing mutation or the informativeness of linked genetic markers before embarking upon a DNA-based prenatal diagnosis is, however, still emphasized. Different fluorescence in situ hybridization (FISH) technologies provide increased resolution for the elucidation of structural chromosome abnormalities that cannot be resolved by more conventional cytogenetic analyses, including microdeletion syndromes, cryptic or subtle duplications and translocations, complex rearrangements involving many chromosomes, and marker chromosomes. Interphase FISH and the quantitative fluorescence polymerase chain reaction are efficient tools for the rapid prenatal diagnosis of selected aneuploidies, the latter being considered to be most cost-effective if analyses are performed on a large scale. There is some debate surrounding whether this approach should be employed as an adjunct to karyotyping or whether it should be used as a stand-alone test in selected groups of women.

  2. Neurodevelopmental Outcomes of Prenatal Stress

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    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.

  3. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

    Directory of Open Access Journals (Sweden)

    Stephen Morris

    Full Text Available Non-invasive prenatal testing (NIPT for Down's syndrome (DS using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information is required on its costs and benefits. We investigated the costs and outcomes of NIPT for DS as contingent testing and as first-line testing compared with the current DS screening programme in the UK National Health Service.We used a pre-existing model to evaluate the costs and outcomes associated with NIPT compared with the current DS screening programme. The analysis was based on a hypothetical screening population of 10,000 pregnant women. Model inputs were taken from published sources. The main outcome measures were number of DS cases detected, number of procedure-related miscarriages and total cost.At a screening risk cut-off of 1∶150 NIPT as contingent testing detects slightly fewer DS cases, has fewer procedure-related miscarriages, and costs the same as current DS screening (around UK£280,000 at a cost of £500 per NIPT. As first-line testing NIPT detects more DS cases, has fewer procedure-related miscarriages, and is more expensive than current screening at a cost of £50 per NIPT. When NIPT uptake increases, NIPT detects more DS cases with a small increase in procedure-related miscarriages and costs.NIPT is currently available in the private sector in the UK at a price of £400-£900. If the NHS cost was at the lower end of this range then at a screening risk cut-off of 1∶150 NIPT as contingent testing would be cost neutral or cost saving compared with current DS screening. As first-line testing NIPT is likely to produce more favourable outcomes but at greater cost. Further research is needed to evaluate NIPT under real world conditions.

  4. Improving prenatal HIV screening with tailored educational interventions: an approach to guideline implementation.

    Science.gov (United States)

    Prairie, B A; Foster, T

    2010-12-01

    A healthy, uncomplicated pregnancy undergoes approximately 13 tests performed over an average of 12.5 prenatal visits. Published rates of compliance with routine prenatal testing are generally >90%, with lower rates for newer tests or those that require additional inputs prior to ordering. New CDC guidelines for prenatal HIV testing highlight the importance of prenatal testing and motivated the authors to explore our routine prenatal testing performance. The authors found the conceptual framework of simple/complicated/complex problems in healthcare helpful in understanding the rates for tests and for developing interventions. The setting for this work was a single, rural, academic tertiary care centre. Baseline rates of four routine prenatal tests (HBsAg, 1 h GTT, GBS, HIV) were determined by analysing 12 months of data from a web-based delivery registry. All rates were >90% except HIV, which was 79.2%. Process mapping and discussions with ordering providers were performed to plan the improvement intervention. Targeted educational interventions specific to each ordering provider type were followed by audit and feedback. HIV testing rates were monitored and analysed monthly using process control charts. The HIV testing rate increased significantly from 79.2% to 94.2%. Rates greater than 90% were maintained for 10 of 11 months reported. Targeted educational interventions combined with audit and feedback can increase rates of routine testing successfully in an outpatient setting. These interventions can be used to improve implementation and compliance with new guidelines when informed by an understanding of local context and processes coupled with an appropriate conceptual framework.

  5. 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.

  6. Practicing provider-initiated HIV testing in high prevalence settings: consent concerns and missed preventive opportunities

    OpenAIRE

    Shayo Elizabeth H; Blystad Astrid; Njeru Mercy K; Nyamongo Isaac K; Fylkesnes Knut

    2011-01-01

    Abstract Background Counselling is considered a prerequisite for the proper handling of testing and for ensuring effective HIV preventive efforts. HIV testing services have recently been scaled up substantially with a particular focus on provider-initiated models. Increasing HIV test rates have been attributed to the rapid scale-up of the provider-initiated testing model, but there is limited documentation of experiences with this new service model. The aim of this study was to determine the ...

  7. Ethical issues in prenatal diagnosis.

    Science.gov (United States)

    Johnson, S R; Elkins, T E

    1988-06-01

    Prenatal diagnosis raises complex ethical issues not only in terms of individual decision making, but also in the development of clinical services and the formulation of public policy regarding access and funding. The motivation behind prenatal diagnosis is generally to provide the family with information regarding the pregnancy so that the outcome can be improved or, in the case of severely affected pregnancies, a decision can be made about pregnancy termination. Although many of the ethical issues involved in prenatal diagnosis and treatment overlap those common to all types of diagnostic procedures, the former situation is complicated by controversy about the moral status of the fetus and the use of selective abortion as a form of treatment. While there is general agreement that pregnancy termination after the 2nd trimester can be justified if the fetus is afflicted with a condition that is incompatible with postnatal survival or characterized by the virtual absence of cognitive functioning, the disposition of a fetus afflicted with a non-life-threatening physical or mental disability (e.g., Down's syndrome) is more controversial. An additional concern is that women with positive screening test results may choose elective abortion rather than undergo a definitive work-up. The issue of maternal versus fetal rights is perhaps the single most controversial dilemma. Here, the basic ethical dilemma is the conflict between respecting maternal autonomy versus acting beneficently toward the fetus. As a general rule, the more invasive the medical technique and the less certain the benefit to the fetus (e.g., laparotomy), the more difficult it is to make a convincing argument for forced interventions involving the mother's body. Situations in which compelling arguments can be made for forced interventions against the will of the mother are those where an otherwise healthy infant will die without immediate intervention or failure to perform a procedure will result in the

  8. Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Biray Erturk

    2016-01-01

    Full Text Available Background. Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. Method. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. Results. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. Conclusion. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.

  9. Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome.

    Science.gov (United States)

    Erturk, Biray; Karaca, Emin; Aykut, Ayca; Durmaz, Burak; Guler, Ahmet; Buke, Baris; Yeniel, Ahmet Ozgur; Ergenoglu, Ahmet Mete; Ozkinay, Ferda; Ozeren, Mehmet; Kazandi, Mert; Akercan, Fuat; Sagol, Sermet; Gunduz, Cumhur; Cogulu, Ozgur

    2016-01-01

    Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.

  10. A clinical audit of provider-initiated HIV counselling and testing in a ...

    African Journals Online (AJOL)

    Background. Early initiation of antiretroviral therapy reduces transmission of HIV and prolongs life. Expansion of HIV testing is therefore pivotal in overcoming the HIV pandemic. Provider-initiated counselling and testing (PICT) at first clinical contact is one way of increasing the number of individuals tested. Our impression is ...

  11. Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing.

    Science.gov (United States)

    Engels, Melanie A J; Bhola, Shama L; Twisk, Jos W R; Blankenstein, Marinus A; van Vugt, John M G

    2014-03-01

    To study the effect of different government prenatal screening (PNS) policies on the uptake of PNS and prenatal diagnostic testing (PND) over the periods 2001-2003 (PNS on request), 2004-2006 (permission to offer the first-trimester combined test (FCT) to women of advanced maternal age (AMA), with women aged evaluate whether trends in uptake are related to maternal age. The indication AMA for PND is still warranted, and the costs for FCT are only reimbursed for AMA women. Analysis of data on the first- and second-trimester screening program (n=41,600) for Down syndrome (DS) and on PND (n=10,795) performed from 2001 to 2010 in the region North-Holland of the Netherlands. To evaluate the actual participation in PNS and PND in different maternal age groups, estimation of the age distribution of women who underwent a fetal anomaly scan in 2009 (n=14,481) was used as a reference population (participation of 85.2%). The overall uptake of FCT was 35.2% in 2010. Over the years the number of FCT in all age groups increased significantly (P<0.001). Overall the number of PND decreased significantly; the number of PND for AMA decreased and the number of PND for increased risk at FCT (in women <36 and ≥36 years) increased (P<0.05). Since 2004 significantly more DS cases were detected with FCT in AMA women and fewer with PND for AMA, and since 2007 more DS cases were detected with FCT in women <36 years (P<0.001). The effect of the national screening program is limited. Significantly more women opt for PNS but the overall uptake remains low, especially in younger women. A significant number of AMA women still opt for PND for AMA. The choice for FCT and PND for AMA seems dependent on background risk. To accomplish a more effective screening policy, reimbursement of the cost of the test should apply to all women and the indication for PND for AMA should be abolished. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  12. Prenatal Screening Using Maternal Markers.

    Science.gov (United States)

    Cuckle, Howard

    2014-05-09

    Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  13. Prenatal Screening Using Maternal Markers

    Directory of Open Access Journals (Sweden)

    Howard Cuckle

    2014-05-01

    Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  14. Human Papillomavirus Testing by Veterans Administration Women's Health Providers: Are They Adhering to Guidelines?

    Science.gov (United States)

    Hallett, Laura D; Gerber, Megan R

    2017-09-08

    Evidence-based guidelines have been created by professional societies, including the United States Preventive Services Task Force (USPSTF) and American Society for Colposcopy and Cervical Pathology (ASCCP), for use of human papillomavirus (HPV) cotesting in cervical cancer screening. We investigated whether Veterans Health Administration (VA) providers at one VA medical center follow these guidelines. Retrospective chart review of women aged 21-65 who had an HPV test ordered with pap testing in fiscal year 2014 at one Veterans Administration (VA) medical center to evaluate concordance of HPV ordering with screening (USPSTF) and management (ASCCP) guidelines. We collected data on patient characteristics and gynecologic history and documented the reason, if given, for HPV testing. Of the 210 eligible HPV tests evaluated, 142 tests (68%) were determined to be guideline discordant. Of the 142 guideline-discordant tests, 90 had no documented reason for HPV testing in the chart. Site of care was not significant. This study demonstrates potential overuse of HPV testing among women's health providers at one VA medical center. This may indicate that VA providers lack an understanding of HPV cotesting guidelines. Further studies are needed to characterize VA provider adherence to HPV testing guidelines nationally. Implementation of educational interventions and decision aids may improve VA providers' adherence to guidelines.

  15. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  16. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

    Science.gov (United States)

    Gerundino, Francesca; Giachini, Claudia; Contini, Elisa; Benelli, Matteo; Marseglia, Giuseppina; Giuliani, Costanza; Marin, Francesca; Nannetti, Genni; Lisi, Ermanna; Sbernini, Fiammetta; Periti, Enrico; Cordisco, Adalgisa; Colosi, Enrico; D'ambrosio, Valentina; Mazzi, Marta; Rossi, Maya; Staderini, Lucia; Minuti, Barbara; Pelo, Elisabetta; Cicatiello, Rita; Maruotti, Giuseppe Maria; Sglavo, Gabriella; Conti, Anna; Frusconi, Sabrina; Pescucci, Chiara; Torricelli, Francesca

    2017-03-01

    The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS). MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads. The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study.

  17. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy.

    Science.gov (United States)

    Mao, Jun; Wang, Ting; Wang, Ben-Jing; Liu, Ying-Hua; Li, Hong; Zhang, Jianguang; Cram, David; Chen, Ying

    2014-06-10

    Non-invasive prenatal testing (NIPT) by massively parallel sequencing is a useful clinical test for the detection of common fetal aneuploidies. While the accuracy of aneuploidy detection can approach 100%, results discordant with the fetus are occasionally reported. In this study we investigated the basis of a discordant T21 positive and T18 negative NIPT result associated with a T18 fetus confirmed by karyotyping. Massively parallel sequencing was used to detect fetal DNA in maternal circulating plasma. The parental origin and nature of the fetal and placental aneuploidies were investigated by quantitative fluorescent PCR of short tandem repeat (STR) sequences and by copy number variation (CNV) sequencing. There was no evidence of T21 maternal mosaicism, T21 microchimerism or a vanishing twin to explain the discordant NIPT result. However, examination of multiple placental biopsies showed both T21 and T18 mosaicism, including one confined region with a significantly higher proportion of T21 cells. Based on fetal DNA fractions and average mosaicism levels, the effective T21 and T18 fetal DNA fractions should have been sufficient for the detection of both trisomies. In this pregnancy, we speculate that confined placental region(s) with higher proportions of T21 cells were preferentially releasing fetal DNAs into the maternal circulation. This study highlights placental mosaicism as a significant risk factor for discordant NIPT results. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Mosaic embryo transfer after oocyte in vitro maturation in combination with non-invasive prenatal testing (NIPT)-first report of a euploid live birth.

    Science.gov (United States)

    Inoue, Naomi; Lopez, Rosmary; Delgado, Andrea; Nuñez, Denisse; Portella, Jimmy; Noriega-Hoces, Luis; Guzmán, Luis

    2017-06-24

    The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied. One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic. However, the next-generation sequencing (NGS) re-analysis showed that embryo was a mosaic for chromosome 13 and 21. Nevertheless, pregnancy ultrasound scans and non-invasive prenatal test (NIPT-Verifi-Illumina) indicated a normal fetus development. Finally, a healthy baby was born after 38 weeks. Its weight was 4480 g, head circumference 36 cm, and total length of 51 cm. To confirm that the baby was chromosomically normal, an NGS test was performed in buccal cells, a normal profile was obtained. Our finding confirmed that mosaic embryo transfer would bring a healthy offspring.

  19. Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.

    Science.gov (United States)

    Filoche, Sara; Cram, Fiona; Lawton, Bev; Beard, Angela; Stone, Peter

    2017-10-04

    Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country. This paper discusses precautions that can be taken at the health system, organisation, and personnel levels to ensure that access to NIPT is equitable, that services are culturally responsive, and women's informed choice is promoted and protected. The adoption of NIPT into publicly funded services is an example of how genetic screening is becoming mainstreamed into health services; as such our approach may also have relevance around the introduction of other genetic and genomic screening initiatives.

  20. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population.

    Science.gov (United States)

    Song, Ken; Musci, Thomas J; Caughey, Aaron B

    2013-08-01

    Evaluate the clinical and economic consequences of fetal trisomy 21 (T21) screening with non-invasive prenatal testing (NIPT) in high-risk pregnant women. Using a decision-analytic model, we estimated the number of T21 cases detected, the number of invasive procedures performed, corresponding euploid fetal losses and total costs for three screening strategies: first trimester combined screening (FTS), integrated screening (INT) or NIPT, whereby NIPT was performed in high-risk patients (women 35 years or older or women with a positive conventional screening test). Modeling was based on a 4 million pregnant women cohort in the US. NIPT, at a base case price of $795, was more clinically effective and less costly (dominant) over both FTS and INT. NIPT detected 4823 T21 cases based on 5330 invasive procedures. FTS detected 3364 T21 cases based on 108 364 procedures and INT detected 3760 cases based on 108 760 procedures. NIPT detected 28% and 43% more T21 cases compared to INT and FTS, respectively, while reducing invasive procedures by >95% and reducing euploid fetal losses by >99%. Total costs were $3786M with FTS, $3919M with INT and $3403M with NIPT. NIPT leads to improved T21 detection and reduction in euploid fetal loss at lower total healthcare expenditures.

  1. Maternal prenatal stress and infant emotional reactivity six months postpartum.

    Science.gov (United States)

    Nolvi, Saara; Karlsson, Linnea; Bridgett, David J; Korja, Riikka; Huizink, Anja C; Kataja, Eeva-Leena; Karlsson, Hasse

    2016-07-15

    Maternal prenatal stress has been related to infant negative affect. However, it is still unclear how different sources of maternal prenatal stress such as depressive, anxiety and pregnancy-specific anxiety symptoms are associated with reactivity outcomes. This study aimed to test the associations between different sources of maternal prenatal stress and the aspects of infant emotional reactivity at six months. Our study population (n=282) was drawn from the FinnBrain Birth Cohort Study. Prenatal stress was measured by questionnaires on maternal depression, general anxiety and pregnancy-specific anxiety at three time points across pregnancy (gwk 14, 24, 34). Based on the symptom scores, the sample was divided into mothers with high stress during pregnancy (n=110) and mothers with low stress during pregnancy (n=172). Mother-reported infant emotional reactivity and its subscales were measured six months postpartum. After controlling for background variables and maternal postnatal symptoms, overall negative emotional reactivity (β=0.20, ppredictors were found for infant positive reactivity after adjusting for confounders. Mother reports of both maternal symptoms and infant reactivity were used, which might increase the risk of reporting bias. The findings suggest that mothers experiencing stress should be provided intervention during pregnancy, and that screening should have a particular focus on pregnancy-related worries. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Prenatal Screening Using Maternal Markers

    OpenAIRE

    Howard Cuckle

    2014-01-01

    Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application ...

  3. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis.

    Science.gov (United States)

    Mackie, F L; Hemming, K; Allen, S; Morris, R K; Kilby, M D

    2017-01-01

    Cell-free fetal DNA (cffDNA) non-invasive prenatal testing (NIPT) is rapidly expanding, and is being introduced at varying rates depending on country and condition. Determine accuracy of cffDNA-based NIPT for all conditions. Evaluate influence of other factors on test performance. Medline, Embase, CINAHL, Cochrane Library, from 1997 to April 2015. Cohort studies reporting cffDNA-based NIPT performance in singleton pregnancies. Bivariate or univariate meta-analysis and subgroup analysis performed to explore influence of test type and population risk. A total of 117 studies were included that analysed 18 conditions. Bivariate meta-analysis demonstrated sensitivities and specificities, respectively, for: fetal sex, 0.989 (95% CI 0.980-0.994) and 0.996 (95% CI 0.989-0.998), 11 179 tests; rhesus D, 0.993 (95% CI 0.982-0.997) and 0.984 (95% CI 0.964-0.993), 10 290 tests; trisomy 21, 0.994 (95% CI 0.983-0.998) and 0.999 (95% CI 0.999-1.000), 148 344 tests; trisomy 18, 0.977 (95% CI 0.952-0.989) and 0.999 (95% CI 0.998-1.000), 146 940 tests; monosomy X, 0.929 (95% CI 0.741-0.984) and 0.999 (95% CI 0.995-0.999), 6712 tests. Trisomy 13 was analysed by univariate meta-analysis, with a summary sensitivity of 0.906 (95% CI 0.823-0.958) and specificity of 1.00 (95% CI 0.999-0.100), from 134 691 tests. False and inconclusive results were poorly reported across all conditions. Although the test type affected both sensitivity and specificity, there was no evidence that population risk had any effect. Performance of cffDNA-based NIPT is affected by condition under investigation. For fetal sex and rhesus D status, NIPT can be considered diagnostic. For trisomy 21, 18, and 13, the lower sensitivity, specificity, and disease prevalence, combined with the biological influence of confined placental mosaicism, designates it a screening test. These factors must be considered when counselling patients and assessing the cost of introduction into routine care

  4. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.

    Science.gov (United States)

    Chitty, Lyn S; Wright, David; Hill, Melissa; Verhoef, Talitha I; Daley, Rebecca; Lewis, Celine; Mason, Sarah; McKay, Fiona; Jenkins, Lucy; Howarth, Abigail; Cameron, Louise; McEwan, Alec; Fisher, Jane; Kroese, Mark; Morris, Stephen

    2016-07-04

     To investigate the benefits and costs of implementing non-invasive prenatal testing (NIPT) for Down's syndrome into the NHS maternity care pathway.  Prospective cohort study.  Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015.  All pregnant women with a current Down's syndrome risk on screening of at least 1/1000.  Outcomes were uptake of NIPT, number of cases of Down's syndrome detected, invasive tests performed, and miscarriages avoided. Pregnancy outcomes and costs associated with implementation of NIPT, compared with current screening, were determined using study data on NIPT uptake and invasive testing in combination with national datasets.  NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. In an annual screening population of 698 500, offering NIPT as a contingent test to women with a Down's syndrome screening risk of at least 1/150 would increase detection by 195 (95% uncertainty interval -34 to 480) cases with 3368 (2279 to 4027) fewer invasive tests and 17 (7 to 30) fewer procedure related miscarriages, for a non-significant difference in total costs (£-46 000, £-1 802 000 to £2 661 000). The marginal cost of NIPT testing strategies versus current screening is very sensitive to NIPT costs; at a screening threshold of 1/150, NIPT would be cheaper than current screening if it cost less than £256. Lowering the risk threshold increases the number of Down's syndrome cases detected and overall costs, while maintaining the reduction in invasive tests and procedure related

  5. Should trained lay providers perform HIV testing? A systematic review to inform World Health Organization guidelines.

    Science.gov (United States)

    Kennedy, C E; Yeh, P T; Johnson, C; Baggaley, R

    2017-12-01

    New strategies for HIV testing services (HTS) are needed to achieve UN 90-90-90 targets, including diagnosis of 90% of people living with HIV. Task-sharing HTS to trained lay providers may alleviate health worker shortages and better reach target groups. We conducted a systematic review of studies evaluating HTS by lay providers using rapid diagnostic tests (RDTs). Peer-reviewed articles were included if they compared HTS using RDTs performed by trained lay providers to HTS by health professionals, or to no intervention. We also reviewed data on end-users' values and preferences around lay providers preforming HTS. Searching was conducted through 10 online databases, reviewing reference lists, and contacting experts. Screening and data abstraction were conducted in duplicate using systematic methods. Of 6113 unique citations identified, 5 studies were included in the effectiveness review and 6 in the values and preferences review. One US-based randomized trial found patients' uptake of HTS doubled with lay providers (57% vs. 27%, percent difference: 30, 95% confidence interval: 27-32, p Cambodia, Malawi, and South Africa comparing testing quality between lay providers and laboratory staff found little discordance and high sensitivity and specificity (≥98%). Values and preferences studies generally found support for lay providers conducting HTS, particularly in non-hypothetical scenarios. Based on evidence supporting using trained lay providers, a WHO expert panel recommended lay providers be allowed to conduct HTS using HIV RDTs. Uptake of this recommendation could expand HIV testing to more people globally.

  6. "It Is Not Easy": Challenges for Provider-Initiated HIV Testing and Counseling in Flanders, Belgium

    Science.gov (United States)

    Manirankunda, Lazare; Loos, Jasna; Debackaere, Pieterjan; Nostlinger, Christiana

    2012-01-01

    This study identified physicians' HIV testing practices and their barriers toward implementing provider-initiated HIV testing and counseling (PITC) for Sub-Saharan African migrants (SAM) in Flanders, Belgium. In-depth interviews were conducted on a purposive sample of 20 physicians (ten GPs and ten internists). GPs performed mainly…

  7. High-throughput, non-invasive prenatal testing for fetal RHD genotype to guide antenatal prophylaxis with anti-D immunoglobulin: a cost-effectiveness analysis.

    Science.gov (United States)

    Saramago, Pedro; Yang, Huiqin; Llewellyn, Alexis; Palmer, Stephen; Simmonds, Mark; Griffin, Susan

    2018-02-07

    To evaluate the cost-effectiveness of high-throughput, non-invasive prenatal testing (HT-NIPT) for fetal RhD genotype to guide antenatal prophylaxis with anti-D immunoglobulin compared to routine antenatal anti-D immunoglobulin prophylaxis (RAADP). Cost-effectiveness decision-analytic modelling. Primary care. A simulated population of 100,000 RhD negative women not known to be sensitised to the RhD antigen. A decision tree model was used to characterise the antenatal care pathway in England and the long-term consequences of sensitisation events. The diagnostic accuracy of HT-NIPT was derived from a systematic review and bivariate meta-analysis; estimates of other inputs were derived from relevant literature sources and databases. Women in whom the HT-NIPT was positive or inconclusive continued to receive RAADP, while women with a negative result received none. Five alternative strategies in which the use of HT-NIPT may affect the existing post-partum care pathway were considered. Costs expressed in 2015GBP and impact on health outcomes expressed in terms of quality adjusted life years (QALYs) over a lifetime. The results suggested that HT-NIPT appears cost saving but also less effective than current practice, irrespective of the post-partum strategy evaluated. A post-partum strategy in which inconclusive test results are distinguished from positive results performed best. HT-NIPT is only cost-effective when the overall test cost is £26.60 or less. HT-NIPT would reduce unnecessary treatment with routine anti-D immunoglobulin and is cost saving when compared to current practice. The extent of any savings and cost-effectiveness is sensitive to the overall test cost. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  8. Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

    Science.gov (United States)

    Koumbaris, George; Kypri, Elena; Tsangaras, Kyriakos; Achilleos, Achilleas; Mina, Petros; Neofytou, Maria; Velissariou, Voula; Christopoulou, Georgia; Kallikas, Ioannis; González-Liñán, Alicia; Benusiene, Egle; Latos-Bielenska, Anna; Marek, Pietryga; Santana, Alfredo; Nagy, Nikoletta; Széll, Márta; Laudanski, Piotr; Papageorgiou, Elisavet A; Ioannides, Marios; Patsalis, Philippos C

    2016-06-01

    There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest. An advanced fetal fraction estimation and aneuploidy determination algorithm was also developed. This assay allowed for accurate counting and assessment of chromosomal regions of interest. The analytical performance of the assay was evaluated in a blind study of 631 samples derived from pregnancies of at least 10 weeks of gestation that had also undergone invasive testing. Our blind study exhibited 100% diagnostic sensitivity and specificity and correctly classified 52/52 (95% CI, 93.2%-100%) cases of trisomy 21, 16/16 (95% CI, 79.4%-100%) cases of trisomy 18, 5/5 (95% CI, 47.8%-100%) cases of trisomy 13, and 538/538 (95% CI, 99.3%-100%) normal cases. The test also correctly identified fetal sex in all cases (95% CI, 99.4%-100%). One sample failed prespecified assay quality control criteria, and 19 samples were nonreportable because of low fetal fraction. The extent to which free fetal DNA testing can be applied as a universal screening tool for trisomy 21, 18, and 13 depends mainly on assay accuracy and cost. Cell-free DNA analysis of targeted genomic regions in maternal plasma enables accurate and cost-effective noninvasive fetal aneuploidy detection, which is critical for widespread adoption of NIPT. © 2016 American Association for Clinical Chemistry.

  9. Prenatal exposure to dental amalgam: evidence from the Seychelles Child Development Study main cohort.

    Science.gov (United States)

    Watson, Gene E; Lynch, Miranda; Myers, Gary J; Shamlaye, Conrad F; Thurston, Sally W; Zareba, Grazyna; Clarkson, Thomas W; Davidson, Philip W

    2011-11-01

    Dental amalgams contain approximately 50 percent metallic mercury and emit mercury vapor during the life of the restoration. Controversy surrounds whether fetal exposure to mercury vapor resulting from maternal dental amalgam restorations has neurodevelopmental consequences. The authors determined maternal amalgam restoration status during gestation (prenatal exposure to mercury vapor [Hg(0)]) retrospectively in 587 mother-child pairs enrolled in the Seychelles Child Development Study, a prospective longitudinal cohort study of the effects of prenatal and recent postnatal methylmercury (MeHg) exposure on neurodevelopment. They examined covariate-adjusted associations between prenatal maternal amalgam restoration status and the results of six age-appropriate neurodevelopmental tests administered at age 66 months. The authors fit the models without and with adjustment for prenatal and recent postnatal MeHg exposure metrics. The mean number of maternal amalgam restorations present during gestation was 5.1 surfaces (range, 1-22) in the 42.4 percent of mothers who had amalgam restorations. The authors found no significant adverse associations between the number of amalgam surfaces present during gestation and any of the six outcomes, with or without adjustment for prenatal and postnatal MeHg exposure. Results of analyses with the secondary metric, prenatal amalgam occlusal point scores, showed an adverse association in boys only on a letter- and word-identification subtest of a frequently used test of scholastic achievement, whereas girls scored better on several other tests with increasing exposure. This study's results provide no support for the hypothesis that prenatal Hg(0) exposure arising from maternal dental amalgam restorations results in neurobehavioral consequences in the child. These findings require confirmation from a prospective study of coexposure to MeHg and Hg(0).

  10. Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

    Directory of Open Access Journals (Sweden)

    Laïla Allach El Khattabi

    Full Text Available NIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical application. Here, we designed an octoplex droplet digital PCR (ddPCR assay which allows increasing the number of available targets and thus overcomes statistical obstacles.After technical optimization of the multiplex PCR on mixtures of trisomic and euploid DNA, we performed a validation study on samples of plasma DNA from 213 pregnant women. Molecular counting of circulating cell-free DNA was performed using a mix of hydrolysis probes targeting chromosome 21 and a reference chromosome.The results of our validation experiments showed that ddPCR detected trisomy 21 even when the sample's trisomic DNA content is as low as 5%. In a validation study of plasma samples from 213 pregnant women, ddPCR discriminated clearly between the trisomy 21 and the euploidy groups.Our results demonstrate that digital PCR can meet the requirements for non-invasive prenatal testing of trisomy 21. This approach is technically simple, relatively cheap, easy to implement in a diagnostic setting and compatible with ethical concerns regarding access to nucleotide sequence information. These advantages make it a potential technique of choice for population-wide screening for trisomy 21 in pregnant women.

  11. Privacy Penetration Testing: How to Establish Trust in Your Cloud Provider

    DEFF Research Database (Denmark)

    Probst, Christian W.; Sasse, M. Angela; Pieters, Wolter

    2012-01-01

    and institutional users no longer have a concept of where their data is stored, and whether they can trust in cloud providers to protect their data. In this chapter, we investigate methods for increasing customers’ trust into cloud providers, and suggest a public penetration-testing agency as an essential component...

  12. Perceived effectiveness of HPV test as a primary screening modality among US providers.

    Science.gov (United States)

    Cooper, Crystale Purvis; Saraiya, Mona

    2015-09-01

    The human papillomavirus (HPV) test, administered alone without the Papanicolaou (Pap) test, was recently recognized as a cervical cancer screening option in the United States by the Society of Gynecologic Oncology and the American Society for Colposcopy and Cervical Pathology, and the Food and Drug Administration has approved an HPV test for primary screening. Surveys of US internists, family practitioners, nurse practitioners, and obstetrician-gynecologists were conducted in 2009 and 2012 to investigate providers' perceptions of the effectiveness of the HPV test administered alone as a population-based screening modality (2009: N=1040, 141-494 per provider group; 2012: N=1039, 155-435 per provider group). The majority in each provider group agreed that the HPV test administered alone is an effective screening modality in 2009 (75.3%-86.1%) and 2012 (79.5%-91.8%), and agreement rose significantly during this time period among family practitioners (χ(2)=15.26, df=1, ptest administered alone is an effective cervical cancer screening modality was widespread among providers in both 2009 and 2012, however implementation of guidelines for screening with the HPV test may be influenced by many other factors including reimbursement and patient preferences. Published by Elsevier Inc.

  13. Effects of an Education Intervention about HPV Self-Testing for Healthcare Providers and Staff.

    Science.gov (United States)

    Presser, Brynne E; Katz, Mira L; Shoben, Abigail B; Moore, Deborah; Ruffin, Mack T; Paskett, Electra D; Reiter, Paul L

    2017-01-10

    Human papillomavirus (HPV) self-testing is an emerging cervical cancer screening strategy, yet efforts to educate healthcare providers and staff about HPV self-testing are lacking. We report the findings of a brief education intervention about HPV self-testing for healthcare providers and staff. We conducted education sessions during 2015 with healthcare providers and staff (n = 33) from five federally qualified health centers located in Appalachian Ohio. Participants attended a one-time session and completed pre- and post-intervention surveys. Analyses for paired data assessed changes in knowledge and beliefs about HPV, HPV-related disease, and HPV self-testing. The intervention increased participants' knowledge and affected many of the beliefs examined. Participants answered an average of 4.67 of six knowledge items correctly on pre-intervention surveys and 5.82 items correctly on post-intervention surveys (p < 0.001). The proportion of participants who answered all six knowledge items correctly increased substantially (pre-intervention =9% vs. post-intervention =82%, p < 0.001). Compared to pre-intervention surveys, participants more strongly believed on post-intervention surveys that it is important to examine HPV self-testing as a potential cervical cancer screening strategy, that their female patients would be willing to use an HPV self-test at home by themselves, and that they have the knowledge to talk with their patients about HPV self-testing (all p < 0.05). A brief education intervention can be a viable approach for increasing knowledge and affecting beliefs about HPV self-testing among healthcare providers and staff. Findings will be valuable for planning and developing future HPV self-test interventions that include an education component for healthcare providers and staff.

  14. Next step in antibiotic stewardship: Pharmacist-provided penicillin allergy testing.

    Science.gov (United States)

    Gugkaeva, Z; Crago, J S; Yasnogorodsky, M

    2017-08-01

    Penicillin allergy limits therapeutic options for patients but often disappears over time, leaving patients erroneously labelled allergic and leading to the utilization of broad-spectrum and more expensive antibiotics. Penicillin allergy can be effectively assessed via skin testing. To improve patient access to penicillin allergy testing by implementing a pharmacist-provided service in a hospital setting. Beta-lactams remain a mainstream therapy for many infections due to their effectiveness, low side effects and affordability. Typically, patient access to penicillin allergy testing is limited by the availability of allergy specialists, who traditionally perform such testing. A pharmacist-provided penicillin allergy testing service was implemented at our hospital in 2015 and became a powerful antibiotic stewardship tool. Removing penicillin allergy from patient profiles significantly expanded therapeutic options, expedited discharges and reduced costs of care. Pharmacists can expand patient access to penicillin allergy testing. Pharmacist-provided penicillin allergy testing permitted optimized antibiotic treatment and expedited discharges. © 2017 John Wiley & Sons Ltd.

  15. Vertical weight-bearing MRI provides an innovative method for standardizing Spurling test.

    Science.gov (United States)

    Yan, Jun; Wang, Yi; Liu, Xiaofeng; Li, Jian; Jin, Zhigao; Zheng, Zugen

    2010-12-01

    Although Spurling test, a foraminal compression test, is commonly used in clinical practice in patients with a suspected cervical radiculopathy, its protocol is still obscure. In undergoing this test, patients extend, laterally flex and slightly rotate neck to the symptomatic side, and then a pressure is applied on the top of patient's head by examiner. The test is scored as positive if it causes pain or tingling that starts in the shoulder and radiates distally to the elbow. But the range of neck motion and level of load are not clearly defined. Magnetic resonance imaging (MRI) has proved to be an excellent method of assessing the situation of cervical intervertebral foramen. Unfortunately the conventional MRI system is not able to fully achieve this goal because it can only examine patient in supine position while Spurling test needs to be performed in a sitting position. Here we hypothesize that vertical weight-bearing MRI provides an innovative method for researching and standardizing the protocols of Spurling test. The result will provide better knowledge of the mechanism of Spurling test. Standardization of the test will improve its sensitivity and rate of reproducibility. Copyright © 2010 Elsevier Ltd. All rights reserved.

  16. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

    Science.gov (United States)

    Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Uthman, Olalekan A; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen

    2016-01-01

    Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. Design Systematic review and meta-analysis of published studies. Data sources PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. Eligibility criteria for selecting studies English language journal articles describing case–control studies with ≥15 trisomy cases or cohort studies with ≥50 pregnant women who had been given NIPT and a reference standard. Results 41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100 000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment. Conclusions NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases. Trial registration number CRD42014014947. PMID:26781507

  17. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies.

    Science.gov (United States)

    Audibert, François; Gagnon, Alain

    2011-07-01

    acceptable first trimester screening test for aneuploidies in twin pregnancies. (II-2) 2. First trimester serum screening combined with nuchal translucency may be considered in twin pregnancies. It provides some improvement over the performance of screening by nuchal translucency and maternal age by decreasing the false-positive rate. (II-3) 3. Integrated screening with nuchal translucency plus first and second trimester serum screening is an option in twin pregnancies. Further prospective studies are required in this area, since it has not been validated in prospective studies in twins. (III) 4. Non-directive counselling is essential when invasive testing is offered. (III) 5. When chorionic villus sampling is performed in non-monochorionic multiple pregnancies, a combination of transabdominal and transcervical approaches or a transabdominal only approach appears to provide the best results to minimize the likelihood of sampling errors. (II-2) Recommendations 1. All pregnant women in Canada, regardless of age, should be offered, through an informed counselling process, the option of a prenatal screening test for the most common clinically significant fetal aneuploidies. In addition, they should be offered a second trimester ultrasound for dating, assessment of fetal anatomy, and detection of multiples. (I-A) 2. Counselling must be non-directive and must respect a woman's right to accept or decline any or all of the testing or options offered at any point in the process. (III-A) 3. When non-invasive prenatal screening for aneuploidy is available, maternal age alone should not be an indication for invasive prenatal diagnosis in a twin pregnancy. (II-2A) If non-invasive prenatal screening is not available, invasive prenatal diagnosis in twins should be offered to women aged 35 and over. (II-2B) 4. Chorionicity has a major impact on the prenatal screening process and should be determined by ultrasound in the first trimester of all twin pregnancies. (II-2A) 5. When screening is

  18. Quality and use of consumer information provided with home test kits: room for improvement.

    Science.gov (United States)

    Grispen, Janaica E J; Ickenroth, Martine H P; de Vries, Nanne K; van der Weijden, Trudy; Ronda, Gaby

    2014-10-01

    Diagnostic self-tests (tests on body materials that are initiated by consumers with the aim of diagnosing a disorder or risk factor) are becoming increasingly available. Although the pros and cons of self-testing are currently not clear, it is an existing phenomenon that is likely to gain further popularity. To examine consumers' use of and needs for information about self-testing, and to assess the quality of consumer information provided with home test kits, as perceived by consumers and as assessed using a checklist of quality criteria. A cross-sectional Internet survey among 305 self-testers assessed their use of and needs for information and their perception of the quality of consumer information provided with self-test kits. A meta-search engine was used to identify Dutch and English consumer information for home diagnostic tests available online at the time of the study. The quality of this consumer information was evaluated using a checklist of quality criteria. The consumers' information needs were in line with the most frequently used information, and the information was perceived as being of moderate to good quality. The information was mostly in agreement with clinical practice guidelines, although information on reliability and follow-up behaviour was limited. Approximately half of the instruction leaflets did not include information on the target group of the test. Although generally of moderate to good quality, some aspects of the information provided were in many cases insufficient. European legislation concerning self-tests and accompanying information needs to be adapted and adhered to more closely. © 2012 John Wiley & Sons Ltd.

  19. Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure

    Science.gov (United States)

    Hagan, Joseph F.; Balachova, Tatiana; Bertrand, Jacquelyn; Chasnoff, Ira; Dang, Elizabeth; Fernandez-Baca, Daniel; Kable, Julie; Kosofsky, Barry; Senturias, Yasmin N.; Singh, Natasha; Sloane, Mark; Weitzman, Carol; Zubler, Jennifer

    2017-01-01

    Children and adolescents affected by prenatal exposure to alcohol who have brain damage that is manifested in functional impairments of neurocognition, self-regulation, and adaptive functioning may most appropriately be diagnosed with neurobehavioral disorder associated with prenatal exposure. This Special Article outlines clinical implications and guidelines for pediatric medical home clinicians to identify, diagnose, and refer children regarding neurobehavioral disorder associated with prenatal exposure. Emphasis is given to reported or observable behaviors that can be identified as part of care in pediatric medical homes, differential diagnosis, and potential comorbidities. In addition, brief guidance is provided on the management of affected children in the pediatric medical home. Finally, suggestions are given for obtaining prenatal history of in utero exposure to alcohol for the pediatric patient. PMID:27677572

  20. Targeted sequencing of maternal plasma for haplotype-based non-invasive prenatal testing of spinal muscular atrophy.

    Science.gov (United States)

    Chen, M; Lu, S; Lai, Z F; Chen, C; Luo, K; Yuan, Y; Wang, Y S; Li, S Q; Gao, Y; Chen, F; Asan; Chen, D J

    2017-06-01

    Five pregnant women with a child affected by spinal muscular atrophy (SMA) were recruited between November 2014 and March 2015. Deletion of exons 7 and/or 8 in the SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA), the current standard diagnostic test for SMA. Parental and fetal haplotypes of the SMN1 gene were determined in each family from haplotype-based non-invasive testing of blood samples and maternal plasma, respectively. Fetal haplotype was compared with the results of MLPA of fetal DNA obtained from amniotic fluid or chorionic villi. Parental haplotypes were constructed successfully in the five families. Assisted by the information on parental haplotype, non-invasive testing of maternal plasma identified one fetus with homozygous deletion of exons 7 and 8, two fetuses with heterozygous deletion of exons 7 and 8 and two normal fetuses. These results were consistent with the diagnosis by MLPA. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

  1. Association Between Prenatal Valproate Exposure and Performance on Standardized Language and Mathematics Tests in School-aged Children

    DEFF Research Database (Denmark)

    Elkjær, Lars Skou; Bech, Bodil Hammer; Sun, Yuelian

    2018-01-01

    Importance: Valproate sodium is used for the treatment of epilepsy and other neuropsychiatric disorders in women of childbearing potential. However, there are concerns about impaired cognitive development in children who have been exposed to valproate during pregnancy. Objective: To estimate...... by Statistics Denmark on April 15, 2016. All children born alive in Denmark between 1997 and 2006 (n = 656 496) were identified. From this cohort, children who did not participate in the national tests, with presumed coding errors in gestational age and children missing information on their mother's educational...

  2. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing

    NARCIS (Netherlands)

    van der Wouden, Cathelijne H.; Carere, Deanna Alexis; Maitland-van der Zee, Anke H.; Ruffin, Mack T.; Roberts, J. Scott; Green, Robert C.; Oosterwijk, Jan

    2016-01-01

    Background: Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP). Objective: To describe the characteristics and perceptions of

  3. United States Air Force Health Care Provider Practices: Skin Testing for Mycobacterium Tuberculosis

    Science.gov (United States)

    1997-04-03

    Infection Control Manager Nurse Manager, Family Practice Clinic Infection Control Assistant Manager Clinical Nurse, Obstetrical Ward Clinical...172 Air Force health care providers at a mid- level medical treatment facility including: medical doctors (MD), doctors of osteopathy (DO...of osteopathy , physician assistants, nurse practitioners and independent duty medical technicians. Knowledge of tuberculosis skin testing: shall be

  4. Psychiatric genetic testing: Attitudes and intentions among future users and providers

    DEFF Research Database (Denmark)

    Laegsgaard, Mett Marri; Mors, Ole

    2008-01-01

    as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing...... contradictions mirroring the bioethical dilemmas recognized in the field and variations in attitudes between groups with different levels of knowledge of genetics, different kinds of experience with mental illness, and different motives and preconceptions regarding psychiatric genetics. The contradictions...... and differences in attitudes among possible future users and providers of psychiatric genetic testing and counseling indicate ambivalence, insecurity, and perceived lack of knowledge in relation to psychiatric genetics. These results should inform further research and the future integration of psychiatric...

  5. Prenatal screening and diagnosis of aneuploidy in multiple pregnancies.

    Science.gov (United States)

    Gagnon, Alain; Audibert, Francois

    2014-02-01

    Prenatal screening for aneuploidy has changed significantly over the last 30 years, from being age-based to maternal serum and ultrasound based techniques. Multiple pregnancies present particular challenges with regards to screening as serum-based screening techniques are influenced by all feti while ultrasound-based techniques can be fetus specific. Tests currently available tend to not perform as well in multiple compared to singleton pregnancies. Considerations must be given to these variations when discussing and performing screening for aneuploidy in this situation. Prenatal invasive diagnosis techniques in multiple pregnancies bring their own challenges from a technical and counselling point of view, in particular with regards to sampling error, mapping and assignment of results and management of abnormal results. This review addresses these particular challenges and provides information to facilitate care. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

    Science.gov (United States)

    Wright, David; Hill, Melissa; Verhoef, Talitha I; Daley, Rebecca; Lewis, Celine; Mason, Sarah; McKay, Fiona; Jenkins, Lucy; Howarth, Abigail; Cameron, Louise; McEwan, Alec; Fisher, Jane; Kroese, Mark; Morris, Stephen

    2016-01-01

    Objective To investigate the benefits and costs of implementing non-invasive prenatal testing (NIPT) for Down’s syndrome into the NHS maternity care pathway. Design Prospective cohort study. Setting Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. Participants All pregnant women with a current Down’s syndrome risk on screening of at least 1/1000. Main outcome measures Outcomes were uptake of NIPT, number of cases of Down’s syndrome detected, invasive tests performed, and miscarriages avoided. Pregnancy outcomes and costs associated with implementation of NIPT, compared with current screening, were determined using study data on NIPT uptake and invasive testing in combination with national datasets. Results NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down’s syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down’s syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. In an annual screening population of 698 500, offering NIPT as a contingent test to women with a Down’s syndrome screening risk of at least 1/150 would increase detection by 195 (95% uncertainty interval −34 to 480) cases with 3368 (2279 to 4027) fewer invasive tests and 17 (7 to 30) fewer procedure related miscarriages, for a non-significant difference in total costs (£−46 000, £−1 802 000 to £2 661 000). The marginal cost of NIPT testing strategies versus current screening is very sensitive to NIPT costs; at a screening threshold of 1/150, NIPT would be cheaper than current screening if it cost less than £256. Lowering the risk threshold increases the number of Down’s syndrome cases detected and

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

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

    obtained. Results:Women in general express a positive attitude towards screening procedures in pregnancy. Women are found most knowledgeable about procedural and practical aspects but are not always aware of the purposes or any limitations of the tests offered. Understanding and interpretation of risk...... 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...... estimates is low and possible consequences if the test reveals a problem is seldom considered beforehand. A woman's attitude to prenatal examinations is found decisive for up-take of prenatal tests, with no association between a woman's attitude towards prenatal examinations and her knowledge of those tests...

  8. Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.

    Science.gov (United States)

    Gerdes, Tommy; Kirchhoff, Maria; Lind, Anne-Marie; Vestergaard Larsen, Gitte; Kjaergaard, Susanne

    2008-12-01

    Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using a commercial MLPA kit (SALSA P095) for aneuploidy of chromosomes 13, 18, 21, X, and Y, and subsequent G-banding. MLPA gave conclusive results in 2330 (97.1%) CVS and 1417 (92.9%) AF samples. MLPA and G-banding showed concordant results except for five CVS and two AF. These were acceptable differences, as MLPA is not expected to detect all cases of mosaicism or partial deletions. MLPA gave inconclusive results for 19 (0.79%) CVS and 20 (1.31%) AF samples in which mosaicism, triploidy, contamination by maternal cells, or structural abnormalities were suspected by MLPA. Finally, 30 (1.97%) AF were discarded because of maternal blood staining, and 51 (2.1%) CVS and 58 (3.8%) AF were discarded because of technical problems. The data presented confirm that MLPA is a rapid, simple and reliable method for large scale testing for nonmosaic aneuploidy of chromosomes 13, 18, 21, X, or Y in trypsin-digested CVS and in AF. Copyright (c) 2008 John Wiley & Sons, Ltd.

  9. Interleukin 1 genetic tests provide no support for reduction of preventive dental care.

    Science.gov (United States)

    Diehl, Scott R; Kuo, Fengshen; Hart, Thomas C

    2015-03-01

    It has been proposed that the PST and PerioPredict genetic tests that are based on polymorphisms in interleukin 1 (IL-1) genes identify a subset of patients who experience fewer tooth extractions if provided with 2 annual preventive visits. Economic analyses indicate rationing preventive care to only "high-risk" genotypes, smokers, patients with diabetes, or combinations of these risk factors would reduce the cost of dental care by $4.8 billion annually in the United States. Data presented in the study that claimed clinical utility for the PST and PerioPredict tests were obtained for reanalysis using logistic regression to assess whether the PST genetic test, smoking, diabetes, or number of preventive visits were risk factors for tooth extraction during a span of 16 years. Consistency of risk classification by the PST (version 1) and PerioPredict (version 2) genetic tests was evaluated in different ethnic groups from the 1000 Genomes database. Multivariate analyses revealed association of tooth extraction with diabetes (P preventive visits (P = .004), but no support for the PST genetic test (P = .96) nor indication that the benefit of 2 preventive visits was affected by this genetic test (P = .58). Classification of risk was highly inconsistent between the PST (version 1) and PerioPredict (version 2) genetic tests. Two annual preventive visits were supported as beneficial for all patients, and there was no evidence that the IL-1 PST genetic test has any effect on tooth extraction risk or influences the benefits of 2 annual preventive visits. Neither IL-1 PST nor PerioPredict genetic tests are useful for rationing preventive dental care. Further research is needed to identify genetic biomarkers with robust clinical validity and clinical utility to effectively personalize the practice of dentistry. Copyright © 2015 American Dental Association. Published by Elsevier Inc. All rights reserved.

  10. Prenatal anknytning : En begreppsanalys

    OpenAIRE

    Sundberg, Cathrine; Eriksson, Cajsa

    2017-01-01

    Bakgrund: Hur mödrar knyter an till sitt väntade barn, vad det påverkas av och vad det kan få för konsekvenser samt hur de lär känna sitt barn under graviditeten innefattas av prenatal anknytning. Prenatal anknytning har stor plats inom mödrahälsovården men som begrepp är det relativt odefinierat. Syfte: Syftet var att beskriva begreppet prenatal anknytning genom en begreppsanalys. Metod: En begreppsanalys med kvalitativ design. Först utfördes en litteratursökning, den teoretiska fasen, och s...

  11. Prenatal alcohol exposure and attachment behavior in children.

    Science.gov (United States)

    O'Connor, Mary J; Kogan, Nina; Findlay, Richard

    2002-10-01

    This study examined the association between prenatal alcohol exposure and attachment behavior in 4- and 5-year-old children. Prenatal alcohol exposure was hypothesized to be associated with insecure attachment behavior of the child toward the mother. It was also hypothesized that children with heavier prenatal alcohol exposure would exhibit higher levels of negative affect as well as poorer coping skills. The quality of maternal support in interaction with the child was predicted to mediate prenatal exposure effects. Participants were 42 mother-child dyads, the majority of whom came from poverty backgrounds in which the mother was a single parent. Attachment security was measured using the Attachment Q-Set. Results revealed that prenatal alcohol exposure was highly related to attachment insecurity. Eighty percent of children who were exposed to alcohol during gestation were insecure, whereas 36% of unexposed children were insecure. Prenatal alcohol exposure also predicted child negative affect, which was related to lower levels of maternal emotional support of the child. However, when the mothers of the prenatally exposed children provided high levels of support, these children evidenced better coping skills and more secure attachment relations. Although prenatal alcohol exposure was found to relate to higher levels of insecure attachment, children of mothers who provided them with emotional support were more able to deal with frustration. These children also exhibited higher levels of attachment security. Thus, the mother's supportive presence may mediate the association between prenatal alcohol exposure and the child's security of attachment.

  12. Comparing characteristics and outcomes in infants with prenatal and postnatal diagnosis of esophageal atresia.

    Science.gov (United States)

    Fallon, Sara C; Ethun, Cecilia G; Olutoye, Oluyinka O; Brandt, Mary L; Lee, Timothy C; Welty, Stephen E; Ruano, Rodrigo; Cass, Darrell L

    2014-07-01

    Previous studies of infants with esophageal atresia (EA) suggest those diagnosed prenatally have worse outcomes because of a higher incidence of associated anomalies. The purpose of this study was to compare characteristics and outcomes of infants with EA diagnosed after fetal center evaluation to those diagnosed postnatally. The records of all neonates treated for EA at our institution from 2002-2012 were reviewed. Infants with a prenatal diagnosis of EA were compared with those postnatally diagnosed using chi-square and Student t-test as appropriate. Of 91 patients treated with EA during the study period, 15 (16%) were diagnosed prenatally at our fetal center. Although those prenatally diagnosed had a higher incidence of pure EA and polyhydramnios, the gestational age and birth weight in that group were similar to those diagnosed postnatally. There were no differences in outcomes between groups with regard to the incidence of major cardiac anomalies, surgical complications, hospital length of stay, and survival. Treatment at a tertiary care center provides excellent outcomes for all infants with EA, despite an 80% frequency of concurrent anomalies. Prenatal diagnosis of EA and attentive obstetric management of polyhydramnios decrease the risk for prematurity and prematurity-associated morbidity. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Prenatal SSRI alters the hormonal and behavioral responses to stress in female mice: Possible role for glucocorticoid resistance.

    Science.gov (United States)

    Avitsur, Ronit; Grinshpahet, Rachel; Goren, Naama; Weinstein, Ido; Kirshenboim, Or; Chlebowski, Noa

    2016-08-01

    Life time prevalence of major depression disorder (MDD) is higher in women compared to men especially during the period surrounding childbirth. Women suffering from MDD during pregnancy use antidepressant medications, particularly Selective Serotonin Reuptake Inhibitors (SSRI). These drugs readily cross the placental barrier and impact the developing fetal brain. The present study assessed the effects of prenatal exposure to fluoxetine (FLX), an SSRI antidepressant drug, on corticosterone and behavioral responses to stress in female mice. In young females, prenatal FLX significantly elevated corticosterone response to continuous stress. In adults, prenatal FLX augmented corticosterone response to acute stress and suppressed the response to continuous stress. Additionally, prenatal FLX significantly augmented stress-induced increase in locomotion and reduced anxiety- and depressive-like behaviors in adult, but not young mice. The dexamethasone suppression test revealed that prenatal FLX induced a state of glucocorticoid resistance in adult females, indicating that the negative feedback control of the hypothalamic-pituitary-adrenal axis response to stress was disrupted. These findings provide the first indication of altered hormonal and behavioral responses to continuous stress and suggest a role for the development of glucocorticoid resistance in these effects. According to these findings, prenatal environment may have implications for stress sensitivity and responsiveness to life challenges. Furthermore, this study may assist in understanding the limitations and precautions that should be taken in the use of SSRIs during pregnancy. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.

    Science.gov (United States)

    Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Uthman, Olalekan A; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen

    2016-01-18

    To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. Systematic review and meta-analysis of published studies. PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. English language journal articles describing case-control studies with ≥ 15 trisomy cases or cohort studies with ≥ 50 pregnant women who had been given NIPT and a reference standard. 41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100,000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment. NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases. CRD42014014947. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  15. Prenatal toxicity of synthetic amorphous silica nanomaterial in rats

    NARCIS (Netherlands)

    Hofmanna, T.; Schneider, S.; Wolterbeek, A.; Sandt, H. van de; Landsiedel, R.; Ravenzwaay, B. van

    2015-01-01

    Synthetic amorphous silica is a nanostructured material, which is produced and used in a wide variety of technological applications and consumer products. No regulatory prenatal toxicity studies with this substance were reported yet. Therefore, synthetic amorphous silica was tested for prenatal

  16. Enhancement of tolerance development to morphine in rats prenatally exposed to morphine, methadone, and buprenorphine

    Directory of Open Access Journals (Sweden)

    Ho Ing-Kang

    2010-06-01

    Full Text Available Abstract Background Abuse of addictive substances is a serious problem that has a significant impact on areas such as health, the economy, and public safety. Heroin use among young women of reproductive age has drawn much attention around the world. However, there is a lack of information on effects of prenatal exposure to opioids on their offspring. In this study, an animal model was established to study effects of prenatal exposure to opioids on offspring. Methods Female pregnant Sprague-Dawley rats were sub-grouped to receive (1 vehicle, (2 2-4 mg/kg morphine (1 mg/kg increment per week, (3 7 mg/kg methadone, and (4 3 mg/kg buprenorphine, subcutaneously, once or twice a day from E3 to E20. The experiments were conducted on animals 8-12 weeks old and with body weight between 250 and 350 g. Results Results showed that prenatal exposure to buprenorphine caused higher mortality than other tested substance groups. Although we observed a significantly lower increase in body weight in all of the opioid-administered dams, the birth weight of the offspring was not altered in all treated groups. Moreover, no obvious behavioral abnormality or body-weight difference was noted during the growing period (8-12 weeks in all offspring. When the male offspring received morphine injection twice a day for 4 days, the prenatally opioid-exposed rats more quickly developed a tolerance to morphine (as shown by the tail-flick tests, most notably the prenatally buprenorphine-exposed offspring. However, the tolerance development to methadone or buprenorphine was not different in offspring exposed prenatally to methadone or buprenorphine, respectively, when compared with that of the vehicle controlled group. Similar results were also obtained in the female animals. Conclusions Animals prenatally exposed to morphine, methadone, or buprenorphine developed tolerance to morphine faster than their controlled mates. In our animal model, prenatal exposure to buprenorphine also

  17. Utilisation, contents and costs of prenatal care under a rural health insurance (New Co-operative Medical System in rural China: lessons from implementation

    Directory of Open Access Journals (Sweden)

    Tang Xiaojun

    2010-11-01

    not prenatal care was included in the NCMS, prenatal care use was high, but the contents of care were not provided following the national guideline and more expensive tests were recommended by doctors. Costs were substantial for the poor.

  18. Ovarian cysts on prenatal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

    2012-08-15

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  19. Prenatal Tests for Down Syndrome

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    ... for a lifetime™ AMERICAN COLLEGE OF NURSE- MIDWIVES Journal of Midwifery & Women’s Health • www.jmwh.org © 2005 by the American College of Nurse-Midwives Issued by Elsevier Inc. 255 1526-9523/05/$30.00 • doi: ...

  20. Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.

    Science.gov (United States)

    Minarik, Gabriel; Repiska, Gabriela; Hyblova, Michaela; Nagyova, Emilia; Soltys, Katarina; Budis, Jaroslav; Duris, Frantisek; Sysak, Rastislav; Gerykova Bujalkova, Maria; Vlkova-Izrael, Barbora; Biro, Orsolya; Nagy, Balint; Szemes, Tomas

    2015-01-01

    The aims of this study were to test the utility of benchtop NGS platforms for NIPT for trisomy 21 using previously published z score calculation methods and to optimize the sample preparation and data analysis with use of in silico and physical size selection methods. Samples from 130 pregnant women were analyzed by whole genome sequencing on benchtop NGS systems Ion Torrent PGM and MiSeq. The targeted yield of 3 million raw reads on each platform was used for z score calculation. The impact of in silico and physical size selection on analytical performance of the test was studied. Using a z score value of 3 as the cut-off, 98.11%-100% (104-106/106) specificity and 100% (24/24) sensitivity and 99.06%-100% (105-106/106) specificity and 100% (24/24) sensitivity were observed for Ion Torrent PGM and MiSeq, respectively. After in silico based size selection both platforms reached 100% specificity and sensitivity. Following the physical size selection z scores of tested trisomic samples increased significantly--p = 0.0141 and p = 0.025 for Ion Torrent PGM and MiSeq, respectively. Noninvasive prenatal testing for chromosome 21 trisomy with the utilization of benchtop NGS systems led to results equivalent to previously published studies performed on high-to-ultrahigh throughput NGS systems. The in silico size selection led to higher specificity of the test. Physical size selection performed on isolated DNA led to significant increase in z scores. The observed results could represent a basis for increasing of cost effectiveness of the test and thus help with its penetration worldwide.

  1. Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.

    Directory of Open Access Journals (Sweden)

    Gabriel Minarik

    Full Text Available The aims of this study were to test the utility of benchtop NGS platforms for NIPT for trisomy 21 using previously published z score calculation methods and to optimize the sample preparation and data analysis with use of in silico and physical size selection methods.Samples from 130 pregnant women were analyzed by whole genome sequencing on benchtop NGS systems Ion Torrent PGM and MiSeq. The targeted yield of 3 million raw reads on each platform was used for z score calculation. The impact of in silico and physical size selection on analytical performance of the test was studied.Using a z score value of 3 as the cut-off, 98.11%-100% (104-106/106 specificity and 100% (24/24 sensitivity and 99.06%-100% (105-106/106 specificity and 100% (24/24 sensitivity were observed for Ion Torrent PGM and MiSeq, respectively. After in silico based size selection both platforms reached 100% specificity and sensitivity. Following the physical size selection z scores of tested trisomic samples increased significantly--p = 0.0141 and p = 0.025 for Ion Torrent PGM and MiSeq, respectively.Noninvasive prenatal testing for chromosome 21 trisomy with the utilization of benchtop NGS systems led to results equivalent to previously published studies performed on high-to-ultrahigh throughput NGS systems. The in silico size selection led to higher specificity of the test. Physical size selection performed on isolated DNA led to significant increase in z scores. The observed results could represent a basis for increasing of cost effectiveness of the test and thus help with its penetration worldwide.

  2. Relationship between anaerobic parameters provided from MAOD and critical power model in specific table tennis test.

    Science.gov (United States)

    Zagatto, A M; Gobatto, C A

    2012-08-01

    The aim of this study was to verify the validity of the curvature constant parameter (W'), calculated from 2-parameter mathematical equations of critical power model, in estimating the anaerobic capacity and anaerobic work capacity from a table tennis-specific test. Specifically, we aimed to i) compare constants estimated from three critical intensity models in a table tennis-specific test (Cf); ii) correlate each estimated W' with the maximal accumulated oxygen deficit (MAOD); iii) correlate each W' with the total amount of anaerobic work (W ANAER) performed in each exercise bout performed during the Cf test. Nine national-standard male table tennis players participated in the study. MAOD was 63.0(10.8) mL · kg - 1 and W' values were 32.8(6.6) balls for the linear-frequency model, 38.3(6.9) balls for linear-total balls model, 48.7(8.9) balls for Nonlinear-2 parameter model. Estimated W' from the Nonlinear 2-parameter model was significantly different from W' from the other 2 models (P0.13). Thus, W' estimated from the 2-parameter mathematical equations did not correlate with MAOD or W ANAER in table tennis-specific tests, indicating that W' may not provide a strong and valid estimation of anaerobic capacity and anaerobic capacity work. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Power Analysis for Genetic Association Test (PAGEANT) provides insights to challenges for rare variant association studies.

    Science.gov (United States)

    Derkach, Andriy; Zhang, Haoyu; Chatterjee, Nilanjan

    2017-11-28

    Genome-wide association studies are now shifting focus from analysis of common to rare variants. As power for association testing for individual rare variants may often be low, various aggregate level association tests have been proposed to detect genetic loci. Typically, power calculations for such tests require specification of large number of parameters, including effect sizes and allele frequencies of individual variants, making them difficult to use in practice. We propose to approximate power to varying degree of accuracy using a smaller number of key parameters, including the total genetic variance explained by multiple variants within a locus. We perform extensive simulation studies to assess the accuracy of the proposed approximations in realistic settings. Using these simplified power calculations, we develop an analytic framework to obtain bounds on genetic architecture of an underlying trait given results from a genome-wide association studies with rare variants. Finally, we provide insights into the required quality of annotation/functional information for identification of likely causal variants to make meaningful improvement in power. A shiny application that allows a variety of Power Analysis of GEnetic AssociatioN Tests (PAGEANT), in R is made publicly available at https://andrewhaoyu.shinyapps.io/PAGEANT/. nilanjan@jhu.edu. Supplementary data are available at Bioinformatics online.

  4. 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. © 2013 Blackwell Publishing Ltd.

  5. Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (II

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-09-01

    Full Text Available Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 in the second and third trimesters, including holoprosencephaly, brachycephaly, microcephaly, Dandy-Walker complex and posterior fossa abnormalities, ventriculomegaly, neural tube defects, facial cleft, and micrognathia.

  6. Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (III

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Full Text Available Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polydactyly.

  7. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing.

    Science.gov (United States)

    van der Wouden, Cathelijne H; Carere, Deanna Alexis; Maitland-van der Zee, Anke H; Ruffin, Mack T; Roberts, J Scott; Green, Robert C

    2016-04-19

    Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP). To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP. Longitudinal, prospective cohort study. Online survey before and 6 months after results. DTC PGT consumers. Consumer satisfaction with the DTC PGT experience; whether and, if so, how many results could be used to improve health; how many results were not understood; and beliefs about the PCP's understanding of genetics. Participants were asked with whom they had discussed their results. Genetic reports were linked to survey responses. Among 1026 respondents, 63% planned to share their results with a PCP. At 6-month follow-up, 27% reported having done so, and 8% reported sharing with another health care provider only. Common reasons for not sharing results with a health care provider were that the results were not important enough (40%) or that the participant did not have time to do so (37%). Among participants who discussed results with their PCP, 35% were very satisfied with the encounter, and 18% were not at all satisfied. Frequently identified themes in participant descriptions of these encounters were actionability of the results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%). Participants may not be representative of all DTC PGT consumers. A comprehensive picture of DTC PGT consumers who shared their results with a health care provider is presented. The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve. National Institutes of Health.

  8. Clinical performance of non?invasive prenatal testing (NIPT) using targeted cell?free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

    OpenAIRE

    Stokowski, Renee; Wang, Eric; White, Karen; Batey, Annette; Jacobsson, Bo.; Brar, Herb; Balanarasimha, Madhumitha; Hollemon, Desiree; Sparks, Andrew; Nicolaides, Kypros; Musci, Thomas J.

    2015-01-01

    Abstract Objective To evaluate the clinical performance of non?invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell?free DNA (cfDNA) analysis. Methods Targeted cfDNA analysis using DANSR? and FORTE? with microarray quantitation was used to evaluate the risk of trisomy 21, 18, and 13 in blinded samples from 799 singleton, twin, natural, and IVF pregnancies. Subjects either had fetal chromosome evaluation by karyotype, FISH, QF?PCR, or karyotype for newborns with suspected a...

  9. Validation of combinatorial probe-anchor ligation-based sequencing as non-invasive prenatal test for trisomy at a central laboratory.

    Science.gov (United States)

    Ma, J; Wang, Y; Wang, W; Dong, Y; Xu, C; Zhou, A; Xu, Z; Wu, Z; Tang, X; Chen, F; Yin, Y; Wang, W; Yan, M; Zhang, W; Mu, F; Yang, H

    2017-07-01

    To evaluate the clinical validity of a new ultrahigh-throughput non-invasive prenatal test (NIPT) based on combinatorial probe-anchor ligation (cPAL) sequencing of cell-free fetal DNA (cffDNA) using centralized testing. Maternal plasma samples were obtained from 10 594 singleton pregnancies in high-risk populations at 20 centers in China, including 8155 that were collected retrospectively and 2439 prospectively. Fetal outcome data and karyotyping results were documented as gold standard and were double blinded during NIPT. The clinical performance of the ultrahigh-throughput sequencing method, cPAL, for NIPT was validated by evaluating its sensitivity, specificity and positive predictive value (PPV) in detecting trisomies 21, 18 and 13 as the centralized testing mode in the reference laboratory. To ensure stable and reproducible performance of centralized cPAL-based NIPT in detecting trisomies, a series of quality-control systems, including sequencing of two sets of artificial samples, were employed and evaluated. Ten prospective cases were excluded from the study because of incomplete clinical data. Four prospective samples failed to generate a NIPT result due to assay failure, presenting a failure rate of 0.16% (4/2429). A total of 168 retrospective cases and 47 prospective cases had a positive NIPT result for trisomy, giving respective positive rates of 2.06% and 1.94%. Four false-positive and no false-positive cases were observed in the retrospective and prospective groups, respectively, resulting in PPV of 97.62% (95% CI, 94.02-99.35%) and 100% (95% CI, 92.45-100%), respectively. In the retrospective group, sensitivity and specificity were, respectively, 100% (95% CI, 97.07-100%) and 99.98% (95% CI, 99.94-100%) for trisomy 21, 100% (95% CI, 97.75-100%) and 99.98% (95% CI, 99.94-100%) for trisomy 18, and 100% (95% CI, 15.81-100%) and 100% (95% CI, 99.95-100%) for trisomy 13. In the prospective group, sensitivity and specificity were, respectively, 100% (95

  10. Brayton Power Conversion Unit Tested: Provides a Path to Future High-Power Electric Propulsion Missions

    Science.gov (United States)

    Mason, Lee S.

    2003-01-01

    Closed-Brayton-cycle conversion technology has been identified as an excellent candidate for nuclear electric propulsion (NEP) power conversion systems. Advantages include high efficiency, long life, and high power density for power levels from about 10 kWe to 1 MWe, and beyond. An additional benefit for Brayton is the potential for the alternator to deliver very high voltage as required by the electric thrusters, minimizing the mass and power losses associated with the power management and distribution (PMAD). To accelerate Brayton technology development for NEP, the NASA Glenn Research Center is developing a low-power NEP power systems testbed that utilizes an existing 2- kWe Brayton power conversion unit (PCU) from previous solar dynamic technology efforts. The PCU includes a turboalternator, a recuperator, and a gas cooler connected by gas ducts. The rotating assembly is supported by gas foil bearings and consists of a turbine, a compressor, a thrust rotor, and an alternator on a single shaft. The alternator produces alternating-current power that is rectified to 120-V direct-current power by the PMAD unit. The NEP power systems testbed will be utilized to conduct future investigations of operational control methods, high-voltage PMAD, electric thruster interactions, and advanced heat rejection techniques. The PCU was tested in Glenn s Vacuum Facility 6. The Brayton PCU was modified from its original solar dynamic configuration by the removal of the heat receiver and retrofitting of the electrical resistance gas heater to simulate the thermal input of a steady-state nuclear source. Then, the Brayton PCU was installed in the 3-m test port of Vacuum Facility 6, as shown. A series of tests were performed between June and August of 2002 that resulted in a total PCU operational time of about 24 hr. An initial test sequence on June 17 determined that the reconfigured unit was fully operational. Ensuing tests provided the operational data needed to characterize PCU

  11. Prenatal Testosterone and Preschool Disruptive Behavior Disorders.

    Science.gov (United States)

    Roberts, Bethan A; Martel, Michelle M

    2013-11-01

    Disruptive Behaviors Disorders (DBD), including Oppositional-Defiant Disorder (ODD) and Attention-Deficit/Hyperactivity Disorder (ADHD), are fairly common and highly impairing childhood behavior disorders that can be diagnosed as early as preschool. Prenatal exposure to testosterone may be particularly relevant to these early-emerging DBDs that exhibit a sex-biased prevalence rate favoring males. The current study examined associations between preschool DBD symptom domains and prenatal exposure to testosterone measured indirectly via right 2D:4D finger-length ratios. The study sample consisted of 109 preschool-age children between ages 3 and 6 (64% males;72% with DBD) and their primary caregivers. Primary caregivers completed a semi-structured interview (i.e., Kiddie Disruptive Behavior Disorder Schedule), as well as symptom questionnaires (i.e., Disruptive Behavior Rating Scale, Peer Conflict Scale); teachers and/or daycare providers completed symptom questionnaires and children provided measures of prenatal testosterone exposure, measured indirectly via finger-length ratios (i.e., right 2D:4D). Study results indicated a significant association of high prenatal testosterone (i.e., smaller right 2D:4D) with high hyperactive-impulsive ADHD symptoms in girls but not boys, suggesting that the effect may be driven by, or might only exist in, girls. The present study suggests that prenatal exposure to testosterone may increase risk for early ADHD, particularly hyperactivity-impulsivity, in preschool girls.

  12. Pregnancy as a proclamation of faith: Ultra-Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosis.

    Science.gov (United States)

    Teman, Elly; Ivry, Tsipy; Bernhardt, Barbara A

    2011-01-01

    Research has suggested that religion and spirituality may inform individuals' interpretation of and responses to uncertainty during pregnancy including the possibility of genetic disorders. In this study, 25 qualitative interviews were undertaken with ultra-Orthodox [Haredi] Jewish women about their experiences with uncertainties related to pregnancy, prenatal care, and prenatal diagnosis. We found that women draw upon a particular set of faith-based concepts to cope with the uncertainties of pregnancy and to make decisions regarding prenatal testing. The women draw on the religious concepts of faith and certainty, which are based on trusting that God will not test them beyond what they can withstand. When prenatal screening indicates a possible fetal anomaly or when a disabled child is born, these women interpret the situation as a God-sent ordeal in which they are called upon to prove their trust and certainty in God's plan and to resist the uncertainties generated by the probability-based technologies. This research has implications for genetic service providers when discussing prenatal testing and fetal anomalies with Haredi women. Copyright © 2010 Wiley-Liss, Inc.

  13. How Do We Get Partners to Test for HIV?: Predictors of Uptake of Partner HIV Testing Following Individual Outpatient Provider Initiated HIV Testing in Rural Uganda.

    Science.gov (United States)

    Kiene, Susan M; Gbenro, Olumide; Sileo, Katelyn M; Lule, Haruna; Wanyenze, Rhoda K

    2017-08-01

    In a sample of outpatients (152 females, 152 males) receiving individual provider-initiated HIV testing and counselling (PITC) we aimed to identify factors associated with subsequent uptake of partner HIV testing. Purposively sampled outpatients receiving PITC at a Ugandan hospital completed a questionnaire immediately prior to testing for HIV, and then at 3 and 6 months post-test. By 6-month follow-up 96% of participants reported disclosing their HIV test results to their partner and 96.4% reported asking their partner to test. 38.8% of women and 78.9% of men reported that their partner tested and they knew their results. Recent (men AOR 5.84, 95.0% CI 1.90-17.99; women AOR 6.19, 95.0% CI 2.74-13.59) or any previous testing by the partner (women AOR 4.01, 95% CI 1.06-15.10) predicted uptake of partner testing by the 6-month follow-up. Among women, perceiving greater social support from their partner, which perhaps reflects better relationship quality, was predictive of their male partner testing for HIV (AOR 2.37, 95% CI 1.22-4.58). Notably intimate partner violence showed no negative association with partner testing. Our findings demonstrate that women are at a disadvantage compared to men in their ability to influence their partner to test for HIV, and that improving social support in intimate relationships should be a focus of HIV partner testing interventions. However, more research on interventions to improve partner testing is needed, particularly in identifying effective ways to support women in engaging their partners to test.

  14. Testing Open-Air Storage of Stumps to Provide Clean Biomass for Energy Production

    Directory of Open Access Journals (Sweden)

    Luigi Pari

    2017-10-01

    Full Text Available When orchards reach the end of the productive cycle, the stumps removal becomes a mandatory operation to allow new soil preparation and to establish new cultivations. The exploitation of the removed stump biomass seems a valuable option, especially in the growing energy market of the biofuels; however, the scarce quality of the material obtained after the extraction compromises its marketability, making this product a costly waste to be disposed. In this regard, the identification of affordable strategies for the extraction and the cleaning of the material will be crucial in order to provide to plantation owners the chance to sell the biomass and offset the extraction costs. Mechanical extraction and cleaning technologies have been already tested on forest stumps, but these systems work on the singular piece and would be inefficient in the conditions of an intensive orchard, where stumps are small and numerous. The objective of this study was to test the possibility to exploit a natural stumps cleaning system through open-air storage. The tested stumps were obtained from two different vineyards, extracted with an innovative stump puller specifically designed for continuous stump removal in intensively-planted orchards. The effects of weathering were evaluated to determine the fuel quality immediately after the extraction and after a storage period of six months with respect to moisture content, ash content, and heating value. Results indicated interesting storage performance, showing also different dynamics depending on the stumps utilized.

  15. Institutionalizing provider-initiated HIV testing and counselling for children: an observational case study from Zambia.

    Directory of Open Access Journals (Sweden)

    Jane N Mutanga

    Full Text Available BACKGROUND: Provider-initiated testing and counselling (PITC is a priority strategy for increasing access for HIV-exposed children to prevention measures, and infected children to treatment and care interventions. This article examines efforts to scale-up paediatric PITC at a second-level hospital located in Zambia's Southern Province, and serving a catchment area of 1.2 million people. METHODS AND PRINCIPAL FINDINGS: Our retrospective case study examined best practices and enabling factors for rapid institutionalization of PITC in Livingstone General Hospital. Methods included clinical observations, key informant interviews with programme management, and a desk review of hospital management information systems (HMIS uptake data following the introduction of PITC. After PITC roll-out, the hospital experienced considerably higher testing uptake. In a 36-month period following PITC institutionalization, of total inpatient children eligible for PITC (n = 5074, 98.5% of children were counselled, and 98.2% were tested. Of children tested (n = 4983, 15.5% were determined HIV-infected; 77.6% of these results were determined by DNA polymerase chain reaction (PCR testing in children under the age of 18 months. Of children identified as HIV-infected in the hospital's inpatient and outpatient departments (n = 1342, 99.3% were enrolled in HIV care, including initiation on co-trimoxazole prophylaxis. A number of good operational practices and enabling factors in the Livingstone General Hospital experience can inform rapid PITC institutionalization for inpatient and outpatient children. These include the placement of full-time nurse counsellors at key areas of paediatric intake, who interface with patients immediately and conduct testing and counselling. They are reinforced through task-shifting to peer counsellors in the wards. Nurse counsellor capacity to draw specimen for DNA PCR for children under 18 months has significantly enhanced early

  16. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... treatment to begin before health problems occur. Prenatal Screening During pregnancy, women have routine tests, such as blood and ... Best, R. G., et al. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American ...

  17. 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- ...

  18. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  19. Prenatal Education for Pregnant Adolescents.

    Science.gov (United States)

    Timberlake, Bobbi; And Others

    1987-01-01

    This paper describes prenatal education classes offered at Teen Pregnancy Service. Outcome data for 66 pregnant teens shows significant changes in prenatal knowledge following the classes. (Author/MT)

  20. The effect of prenatal education curriculum on mother's prenatal examination utilization, delivery mode and recovery status: a cross-sectional survey in China.

    Science.gov (United States)

    Shi, Yuhui; Wang, Dongxu; Yuan, Yanfei; Jiang, Ying; Zeng, Qingqi; Chang, Chun

    2015-11-01

    To examine the participation, implementation, and effect of the prenatal education curriculum provided by hospitals in China, and to provide evidence for the improvement of prenatal education. A cross-sectional survey was conducted in the hospitals in Hunan Province, China. Mothers aged 20-45 years who had given birth between 1 May 2011 and 1 May 2012 and not diagnosed with pregnancy-related complications were invited to participate in the study. A self-administered, structured questionnaire was used to examine the effect of prenatal education curriculum on prenatal examination utilization, delivery mode, and recovery status from delivery. Among the total 604 respondents, only 175 (29.1 %) surveyed mothers participated in prenatal education curriculum provided by hospitals during their latest delivery. These mothers had a higher rate of attending all the required prenatal examinations (57.9 vs. 48.3 %), and a higher rate of recovering very well and well (80 vs. 73.7 %) from the latest delivery, than those who did not participate in prenatal education curriculum (P curriculum provided by hospitals. Prenatal education is indispensable for the improvement of maternal and child health, and thus should be advocated. In China, a standard and convenient specification prenatal education curriculum provided by hospitals and their doctors is appropriated for providing prenatal education to pregnant women.

  1. Hemozoin detection may provide an inexpensive, sensitive, 1-minute malaria test that could revolutionize malaria screening.

    Science.gov (United States)

    Grimberg, Brian T; Grimberg, Kerry O

    2016-10-01

    Malaria remains widespread throughout the tropics and is a burden to the estimated 3.5 billion people who are exposed annually. The lack of a fast and accurate diagnostic method contributes to preventable malaria deaths and its continued transmission. In many areas diagnosis is made solely based on clinical presentation. Current methods for malaria diagnosis take more than 20 minutes from the time blood is drawn and are frequently inaccurate. The introduction of an accurate malaria diagnostic that can provide a result in less than 1 minute would allow for widespread screening and treatment of endemic populations, and enable regions that have gained a foothold against malaria to prevent its return. Using malaria parasites' waste product, hemozoin, as a biomarker for the presence of malaria could be the tool needed to develop this rapid test.

  2. The economic impact of prenatal varicella immunity among pregnant women in Alberta.

    Science.gov (United States)

    Passi, Amrit; Plitt, Sabrina S; Lai, Florence Y; Simmonds, Kimberley; Charlton, Carmen L

    2017-01-23

    In light of the changing epidemiology of varicella, we sought to examine varicella antibody levels in the prenatal population in the Canadian province of Alberta. All prenatal varicella screening tests performed between August 1, 2002 and February 2, 2014 (454,592) were included in this study. Test results, demographics and vaccination status were examined to identify varicella seroprevalence and correlates for being seronegative. An overall seroprevalence for varicella of 95.8% was found across all pregnancy screenings. Significant independent correlates of seronegativity included younger age (AOR: 4.72 (95% CI: 3.87-5.77) for 40years of age) and having immigrated to Alberta from Africa or Asia (AOR: 4.55 (95% CI: 4.10-5.05) and AOR: 5.83 (95%CI; 5.48-6.19), respectively). Women who were initially seronegative for varicella antibodies and who received both postnatal vaccination and post-vaccination prenatal screening (2566) were examined to assess seroconversion. 66.3% of women who were tested up to six months post-vaccination were seropositive, however only 36.9% of women tested after 36months were seropositive. Finally, 40.9% of all prenatal varicella specimens tested were deemed redundant, i.e. women had either a history of (1) ⩾2 doses of varicella vaccine, (2) varicella infection, or (3) a previous positive varicella serology. Eliminating this redundant screening could provide an estimated $96,000 in savings annually in laboratory and Public Health follow-up costs alone. As the number of women with vaccine-derived immunity through universal childhood vaccination increase in the prenatal population, screening methods may need to adapt to ensure varicella immunity is accurately conducted and assessed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Providing an empirical basis for optimizing the verification and testing phases of software development

    Science.gov (United States)

    Briand, Lionel C.; Basili, Victor R.; Hetmanski, Christopher J.

    1992-01-01

    Applying equal testing and verification effort to all parts of a software system is not very efficient, especially when resources are limited and scheduling is tight. Therefore, one needs to be able to differentiate low/high fault density components so that the testing/verification effort can be concentrated where needed. Such a strategy is expected to detect more faults and thus improve the resulting reliability of the overall system. This paper presents an alternative approach for constructing such models that is intended to fulfill specific software engineering needs (i.e. dealing with partial/incomplete information and creating models that are easy to interpret). Our approach to classification is as follows: (1) to measure the software system to be considered; and (2) to build multivariate stochastic models for prediction. We present experimental results obtained by classifying FORTRAN components developed at the NASA/GSFC into two fault density classes: low and high. Also we evaluate the accuracy of the model and the insights it provides into the software process.

  4. The comparative effects of group prenatal care on psychosocial outcomes.

    Science.gov (United States)

    Heberlein, Emily C; Picklesimer, Amy H; Billings, Deborah L; Covington-Kolb, Sarah; Farber, Naomi; Frongillo, Edward A

    2016-04-01

    To compare the psychosocial outcomes of the CenteringPregnancy (CP) model of group prenatal care to individual prenatal care, we conducted a prospective cohort study of women who chose CP group (N = 124) or individual prenatal care (N = 124). Study participants completed the first survey at study recruitment (mean gestational age 12.5 weeks), with 89% completing the second survey (mean gestational age 32.7 weeks) and 84% completing the third survey (6 weeks' postpartum). Multiple linear regression models compared changes by prenatal care model in pregnancy-specific distress, prenatal planning-preparation and avoidance coping, perceived stress, affect and depressive symptoms, pregnancy-related empowerment, and postpartum maternal-infant attachment and maternal functioning. Using intention-to-treat models, group prenatal care participants demonstrated a 3.2 point greater increase (p prenatal planning-preparation coping strategies. While group participants did not demonstrate significantly greater positive outcomes in other measures, women who were at greater psychosocial risk benefitted from participation in group prenatal care. Among women reporting inadequate social support in early pregnancy, group participants demonstrated a 2.9 point greater decrease (p = 0.03) in pregnancy-specific distress in late pregnancy and 5.6 point higher mean maternal functioning scores postpartum (p = 0.03). Among women with high pregnancy-specific distress in early pregnancy, group participants had an 8.3 point greater increase (p prenatal planning-preparation coping strategies in late pregnancy and a 4.9 point greater decrease (p = 0.02) in postpartum depressive symptom scores. This study provides further evidence that group prenatal care positively impacts the psychosocial well-being of women with greater stress or lower personal coping resources. Large randomized studies are needed to establish conclusively the biological and psychosocial benefits of group

  5. Low Power Testing—What Can Commercial Design-for-Test Tools Provide?

    OpenAIRE

    Xijiang Lin

    2011-01-01

    Minimizing power consumption during functional operation and during manufacturing tests has become one of the dominant requirements for the semiconductor designs in the past decade. From commercial design-for-test (DFT) tools’ point of view, this paper describes how DFT tools can help to achieve comprehensive testing of low power designs and reduce test power consumption during test application.

  6. The honeycomb maze provides a novel test to study hippocampal-dependent spatial navigation.

    Science.gov (United States)

    Wood, Ruth A; Bauza, Marius; Krupic, Julija; Burton, Stephen; Delekate, Andrea; Chan, Dennis; O'Keefe, John

    2018-02-01

    Here we describe the honeycomb maze, a behavioural paradigm for the study of spatial navigation in rats. The maze consists of 37 platforms that can be raised or lowered independently. Place navigation requires an animal to go to a goal platform from any of several start platforms via a series of sequential choices. For each, the animal is confined to a raised platform and allowed to choose between two of the six adjacent platforms, the correct one being the platform with the smallest angle to the goal-heading direction. Rats learn rapidly and their choices are influenced by three factors: the angle between the two choice platforms, the distance from the goal, and the angle between the correct platform and the direction of the goal. Rats with hippocampal damage are impaired in learning and their performance is affected by all three factors. The honeycomb maze represents a marked improvement over current spatial navigation tests, such as the Morris water maze, because it controls the choices of the animal at each point in the maze, provides the ability to assess knowledge of the goal direction from any location, enables the identification of factors influencing task performance and provides the possibility for concomitant single-cell recording.

  7. Basic haemoglobinopathy diagnostics in Dutch laboratories; providing an informative test result.

    Science.gov (United States)

    Kaufmann, J O; Smit, J W; Huisman, W; Idema, R N; Bakker, E; Giordano, P C

    2013-08-01

    After a first survey in 2001, the Dutch Association of Hematological Laboratory Research (VHL) advised its members to adopt a basic protocol for haemoglobinopathy carrier detection and to provide genetic information with all positive results to allow health-care professionals to inform carriers about potential genetic risks. This article reports on the compliance with these recommendations and their consequences. Clinical chemists of all 106 Dutch laboratories were invited to answer a survey on patient population, diagnostic techniques used, (self-reported) knowledge, use and effect of the additional information. The average increase in diagnostic output was over 60% and the recommended basic protocol was applied by 65% of the laboratories. Over 84% of the laboratories reported to be aware of the additional recommendations and 77% to be using them. Most laboratories with limited diagnostic requests were still sending their cases to other laboratories and included the genetic information received from these laboratories in their diagnostic reports. The effect of information on subsequent 'family analysis' was estimated to be between 26 and 50%. The present study shows an increase in diagnostic potential for haemoglobinopathy over the last decade, especially in the larger cities. Low 'family testing' rates were mostly found in areas with lower carrier prevalence or associated with local reluctance to pass the information to carriers. In spite of a dramatic improvement, too many carriers are still not informed because of lack of awareness among health-care providers and more education is needed. © 2012 John Wiley & Sons Ltd.

  8. Evaluating ecosystem services provided by non-native species: an experimental test in California grasslands.

    Science.gov (United States)

    Stein, Claudia; Hallett, Lauren M; Harpole, W Stanley; Suding, Katharine N

    2014-01-01

    The concept of ecosystem services--the benefits that nature provides to human's society--has gained increasing attention over the past decade. Increasing global abiotic and biotic change, including species invasions, is threatening the secure delivery of these ecosystem services. Efficient evaluation methods of ecosystem services are urgently needed to improve our ability to determine management strategies and restoration goals in face of these new emerging ecosystems. Considering a range of multiple ecosystem functions may be a useful way to determine such strategies. We tested this framework experimentally in California grasslands, where large shifts in species composition have occurred since the late 1700's. We compared a suite of ecosystem functions within one historic native and two non-native species assemblages under different grazing intensities to address how different species assemblages vary in provisioning, regulatory and supporting ecosystem services. Forage production was reduced in one non-native assemblage (medusahead). Cultural ecosystem services, such as native species diversity, were inherently lower in both non-native assemblages, whereas most other services were maintained across grazing intensities. All systems provided similar ecosystem services under the highest grazing intensity treatment, which simulated unsustainable grazing intensity. We suggest that applying a more comprehensive ecosystem framework that considers multiple ecosystem services to evaluate new emerging ecosystems is a valuable tool to determine management goals and how to intervene in a changing ecosystem.

  9. Evaluating ecosystem services provided by non-native species: an experimental test in California grasslands.

    Directory of Open Access Journals (Sweden)

    Claudia Stein

    Full Text Available The concept of ecosystem services--the benefits that nature provides to human's society--has gained increasing attention over the past decade. Increasing global abiotic and biotic change, including species invasions, is threatening the secure delivery of these ecosystem services. Efficient evaluation methods of ecosystem services are urgently needed to improve our ability to determine management strategies and restoration goals in face of these new emerging ecosystems. Considering a range of multiple ecosystem functions may be a useful way to determine such strategies. We tested this framework experimentally in California grasslands, where large shifts in species composition have occurred since the late 1700's. We compared a suite of ecosystem functions within one historic native and two non-native species assemblages under different grazing intensities to address how different species assemblages vary in provisioning, regulatory and supporting ecosystem services. Forage production was reduced in one non-native assemblage (medusahead. Cultural ecosystem services, such as native species diversity, were inherently lower in both non-native assemblages, whereas most other services were maintained across grazing intensities. All systems provided similar ecosystem services under the highest grazing intensity treatment, which simulated unsustainable grazing intensity. We suggest that applying a more comprehensive ecosystem framework that considers multiple ecosystem services to evaluate new emerging ecosystems is a valuable tool to determine management goals and how to intervene in a changing ecosystem.

  10. Genomic futures of prenatal screening : Ethical reflection

    NARCIS (Netherlands)

    Dondorp, W. J.; Page-Christiaens, G. C M L; de Wert, G. M W R

    2016-01-01

    The practice of prenatal screening is undergoing important changes as a result of the introduction of genomic testing technologies at different stages of the screening trajectory. It is expected that eventually it will become possible to routinely obtain a comprehensive 'genome scan' of all fetuses.

  11. Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.

    Science.gov (United States)

    Stokowski, Renee; Wang, Eric; White, Karen; Batey, Annette; Jacobsson, Bo; Brar, Herb; Balanarasimha, Madhumitha; Hollemon, Desiree; Sparks, Andrew; Nicolaides, Kypros; Musci, Thomas J

    2015-12-01

    To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA (cfDNA) analysis. Targeted cfDNA analysis using DANSR™ and FORTE™ with microarray quantitation was used to evaluate the risk of trisomy 21, 18, and 13 in blinded samples from 799 singleton, twin, natural, and IVF pregnancies. Subjects either had fetal chromosome evaluation by karyotype, FISH, QF-PCR, or karyotype for newborns with suspected aneuploidy at birth. The results of targeted cfDNA analysis were compared to clinical genetic testing outcomes to assess clinical performance. Targeted cfDNA analysis with microarray quantification identified 107/108 trisomy 21 cases (99.1%), 29/30 trisomy 18 cases (96.7%), and 12/12 trisomy 13 cases (100%). The specificity was 100% for all three trisomies. Combining this data with all published clinical performance studies using DANSR/FORTE methodology for greater than 23 000 pregnancies, the sensitivity of targeted cfDNA analysis was calculated to be greater than 99% for trisomy 21, 97% for trisomy 18, and 94% for trisomy 13. Specificity for each trisomy was greater than 99.9%. Targeted cfDNA analysis demonstrates consistently high sensitivity and extremely low false positive rates for common autosomal trisomies in pregnancy across quantitation platforms. © 2015 Ariosa Diagnostics Inc. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  12. Prenatal stress alters amygdala functional connectivity in preterm neonates.

    Science.gov (United States)

    Scheinost, Dustin; Kwon, Soo Hyun; Lacadie, Cheryl; Sze, Gordon; Sinha, Rajita; Constable, R Todd; Ment, Laura R

    2016-01-01

    Exposure to prenatal and early-life stress results in alterations in neural connectivity and an increased risk for neuropsychiatric disorders. In particular, alterations in amygdala connectivity have emerged as a common effect across several recent studies. However, the impact of prenatal stress exposure on the functional organization of the amygdala has yet to be explored in the prematurely-born, a population at high risk for neuropsychiatric disorders. We test the hypothesis that preterm birth and prenatal exposure to maternal stress alter functional connectivity of the amygdala using two independent cohorts. The first cohort is used to establish the effects of preterm birth and consists of 12 very preterm neonates and 25 term controls, all without prenatal stress exposure. The second is analyzed to establish the effects of prenatal stress exposure and consists of 16 extremely preterm neonates with prenatal stress exposure and 10 extremely preterm neonates with no known prenatal stress exposure. Standard resting-state functional magnetic resonance imaging and seed connectivity methods are used. When compared to term controls, very preterm neonates show significantly reduced connectivity between the amygdala and the thalamus, the hypothalamus, the brainstem, and the insula (p amygdala and the thalamus, the hypothalamus, and the peristriate cortex (p amygdala connectivity associated with preterm birth. Functional connectivity from the amygdala to other subcortical regions is decreased in preterm neonates compared to term controls. In addition, these data, for the first time, suggest that prenatal stress exposure amplifies these decreases.

  13. Impact of combined prenatal ethanol and prenatal stress exposure on anxiety and hippocampal-sensitive learning in adult offspring.

    Science.gov (United States)

    Staples, Miranda C; Rosenberg, Martina J; Allen, Nyika A; Porch, Morgan W; Savage, Daniel D

    2013-12-01

    Prenatal ethanol (EtOH) and prenatal stress have both been independently shown to induce learning deficits and anxiety behavior in adult offspring. However, the interactive effects of these 2 developmental teratogens on behavioral outcomes have not been systematically evaluated. We combined an established moderate prenatal EtOH consumption paradigm where Long-Evans rat dams voluntarily consume either a 0 or 5% EtOH solution in 0.066% saccharin water (resulting in a mean peak maternal serum EtOH concentration of 84 mg/dl) with a novel prenatal stress paradigm. Pregnant rats were exposed to 3% 2,3,5-trimethyl-3-thiazoline (TMT) for 20 minutes a day on gestational days 13, 15, 17, and 19. Adult female offspring were evaluated for anxiety-like behavior using an elevated plus-maze and hippocampal-sensitive learning using a 2-trial trace conditioning (TTTC) task. TMT exposure produced a threefold increase in maternal serum corticosterone compared to nonexposed, unhandled controls. Neither prenatal exposure paradigm, either alone or in combination, altered maternal weight gain, EtOH consumption, maternal care of litters, litter size, pup birth weight, or pup weight gain up to weaning. Offspring exposed to prenatal stress displayed significant increases in anxiety-like behavior in the elevated plus maze in terms of open arm entries and time spent on the open arms, with no significant effect of prenatal EtOH exposure and no interaction of the 2 prenatal exposures. Performance in a TTTC task revealed a significant effect of prenatal EtOH exposure on freezing behavior on the testing day, with no significant effect of prenatal stress exposure and no interaction of the 2 prenatal exposures. While each prenatal exposure independently produced different behavioral outcomes, the results indicate that there is no significant interaction of prenatal EtOH and prenatal stress exposures on learning or anxiety at the exposure levels employed in this dual exposure paradigm. Subsequent

  14. Provider-initiated HIV counselling and testing (PICT) in the mentally ill

    African Journals Online (AJOL)

    and testing (CICT); and (ii) PICT. In CICT, also referred to as voluntary counselling and testing (VCT), individuals actively seek. HIV testing and counselling at a facility that offers these services, as well as pre-test information. The process is voluntary and the. 'three Cs' (informed consent, counselling and confidentiality) are.

  15. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  16. Prenatal counselling for congenital anomalies: a systematic review.

    Science.gov (United States)

    Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

    2016-07-01

    Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling. Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised. Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts. Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  17. Prenatal depression: Early intervention.

    Science.gov (United States)

    Anderson, Cheryl A; Lieser, Carol

    2015-07-15

    Frequently undiagnosed and untreated, prenatal depression affects approximately one in four childbearing women. Screening and appropriate management is essential to prevent adverse consequences to both the woman and her unborn infant. Early conversations between the woman and her nurse practitioner are essential to making medical management decisions.

  18. 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

  19. Family health strategy and equity in prenatal care: a population based cross-sectional study in Minas Gerais, Brazil.

    Science.gov (United States)

    Andrade, Mônica Viegas; Noronha, Kenya Valéria Micaela de Souza; Queiroz Barbosa, Allan Claudius; Souza, Michelle Nepomuceno; Calazans, Júlia Almeida; Carvalho, Lucas Resende de; Rocha, Thiago Augusto Hernandes; Silva, Núbia Cristina

    2017-01-21

    Prenatal care coverage is still not universal or adequately provided in many low and middle income countries. One of the main barriers regards the presence of socioeconomic inequalities in prenatal care utilization. In Brazil, prenatal care is supplied for the entire population at the community level as part of the Family Health Strategy (FHS), which is the main source of primary care provided by the public health system. Brazil has some of the greatest income inequalities in the world, and little research has been conducted to investigate prenatal care utilization of FHS across socioeconomic groups. This paper addresses this gap investigating the socioeconomic and regional differences in the utilization of prenatal care supplied by the FHS in the state of Minas Gerais, Brazil. Data comes from a probabilistic household survey carried out in 2012 representative of the population living in urban areas in the state of Minas Gerais. The sample size comprises 1,420 women aged between 13 and 45 years old who had completed a pregnancy with a live born in the last five years prior to the survey. The outcome variables are received prenatal care, number of antenatal visits, late prenatal care, antenatal tests, tetanus immunization and low birthweight. A descriptive analysis and logistic models were estimated for the outcome variables. The coverage of prenatal care is almost universal in catchment urban areas of FHT of Minas Gerais state including both antenatal visits and diagnostic procedures. Due to this high level of coverage, socioeconomic inequalities were not observed. FHS supplied care for around 80% of the women without private insurance and 90% for women belonging to lower socioeconomic classes. Women belonging to lower socioeconomic classes were at least five times more likely to receive antenatal visits and any of the antenatal tests by the FHS compared to those belonging to the highest classes. Moreover, FHS was effective in reducing low birthweight. Women who

  20. Prenatal screening for fetal aneuploidy in singleton pregnancies.

    Science.gov (United States)

    Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

    2011-07-01

    To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document reviews the options available for non-invasive screening and makes recommendations for Canadian patients and health care workers. To offer non-invasive screening for fetal aneuploidy (trisomy 13, 18, 21) to all pregnant women. Invasive prenatal diagnosis would be offered to women who screen above a set risk cut-off level on non-invasive screening or to pregnant women whose personal, obstetrical, or family history places them at increased risk. Currently available non-invasive screening options include maternal age combined with one of the following: (1) first trimester screening (nuchal translucency, maternal age, and maternal serum biochemical markers), (2) second trimester serum screening (maternal age and maternal serum biochemical markers), or (3) 2-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (integrated prenatal screen, serum integrated prenatal screening, contingent, and sequential). These options are reviewed, and recommendations are made. Studies published between 1982 and 2009 were retrieved through searches of PubMed or Medline and CINAHL and the Cochrane Library, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational

  1. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    Background: Providing women with information enabling an informed consent to prenatal examinations has been widely recommended. Objective: The primary purpose of this review is to summarise current knowledge of the pregnant woman's expectations and attitudes concerning prenatal examinations...... of information, and 57 % stated that this information has influenced their decision.  Conclusions: Pregnant women favor prenatal examinations, but the choice of participation does not seem to be based on insight to enable full informed consent. Health care providers are perceived as an essential source...... of information. ...

  2. Prenatal Alcohol Exposure and Congenital Heart Defects: A Meta-Analysis.

    Science.gov (United States)

    Yang, Jiaomei; Qiu, Huizhen; Qu, Pengfei; Zhang, Ruo; Zeng, Lingxia; Yan, Hong

    2015-01-01

    There are still inconsistent conclusions about the association of prenatal alcohol drinking with congenital heart defects (CHDs). We conducted this meta-analysis to investigate the association between prenatal alcohol exposure and the risk of overall CHDs and the CHDs subtypes. Case-control and cohort studies published before March 2015 were searched through PubMed and Embase. Two authors independently extracted data and scored the study quality according to the Newcastle-0ttawa Scale. The pooled ORs and 95%CI were estimated using the random-effects model and heterogeneity was assessed by the Q test and I2 statistic. A total of 20 studies were finally included. The results provided no evidence of the association between prenatal alcohol exposure and the risk of overall CHDs (OR = 1.06, 95%CI = 0.93-1.22), ventricular septal defects (VSDs) (OR = 1.04, 95%CI = 0.86-1.25), or atrial septal defects (ASDs) (OR = 1.40, 95%CI = 0.88-2.23). However, prenatal alcohol drinking was marginally significantly associated with conotruncal defects (CTDs) (OR = 1.24, 95%CI = 0.97-1.59) and statistically significantly associated with d-Transposition of the Great Arteries (dTGA) (OR = 1.64, 95%CI = 1.17-2.30). Moreover, both prenatal heavy drinking and binge drinking have a strong association with overall CHDs (heavy drinking: OR = 3.76, 95%CI = 1.00-14.10; binge drinking: OR = 2.49, 95%CI = 1.04-5.97), and prenatal moderate drinking has a modest association with CTDs (OR = 1.35, 95%CI = 1.05-1.75) and dTGA (OR = 1.86, 95%CI = 1.09-3.20). In conclusion, the results suggested that prenatal alcohol exposure was not associated with overall CHDs or some subtypes, whereas marginally significant association was found for CTDs and statistically significant association was found for dTGA. Further prospective studies with large population and better designs are needed to explore the association of prenatal alcohol exposure with CHDs including the subtypes in specific groups.

  3. Representing and intervening: 'doing' good care in first trimester prenatal knowledge production and decision-making

    DEFF Research Database (Denmark)

    Schwennesen, Nete; Koch, Lene

    2012-01-01

    attention to the active engagement of health professionals in this process. Current professional and policy debate over the use of prenatal testing emphasises the need for informed choice making and for services that provide prospective parents with what is referred to as 'non-directive counselling...... modes of 'doing' good care: attuning expectations and knowledge, allowing resistance and providing situated influence in the relationship between the pregnant woman and the professional. Such practices may not be seen as immediately compatible with the non-directive ethos, but they express ways...... at non-interference (non-directiveness) such modes of doing good care express an ethics of being locally accountable for the ways in which programmes of prenatal testing intervene in pregnant women's lives and of taking responsibility for the entities and phenomena that emerge through such knowledge...

  4. Biological Effects after Prenatal Irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Streffer, C.

    2004-07-01

    A Task Group of the International Commission on Radiological Protection (ICRP) has finished a report Biological Effects after Prenatal Irradiation (Embryo and Fetus) which has been approved by the Main Commission and Will be Published. Some new important scientific data shall be discussed in this contribution. During the preimplantation period lethality of the mammalian embryo is the dominating radiation effect. However, in mouse strains with genetic predispositions it has been shown that also malformations can be caused. This effect is genetically determined and its mechanisms is different from the induction of malformations during major organogenesis. Radiation exposures during this prenatal period leads ato an increase of genomic instability of cells in the normal appearing fetuses. These radiation effects can be transmitted to the next generation. A renewed analysis of individuals with severe mental retardation after exposures during the 8th to 15th week post conception in Hiroshima and Nagasaki gives evidence that a threshold dose exists for this effect around 300 mGy. This is supported by a number of experimental animal data which have been obtained from cellular and molecular investigations during the brain development. The data show the high radiosensitivity of the developing brain but also the various compensatory mechanisms and the enormous plasticity of these processes. The radiosensitivity varies strongly during the prenatal development. The highest sensitivity is found during the early and mid fetal period which is coinciding with weeks 8-15 post conception in humans. The lowest doses causing persistent damage are in the range of 100 to 300 mGy. For intelligence quotient scores a linear dose response model provides a satisfactory fit. From the experimental data it can be concluded that the fetal stage is most sensitive to the carcinogenic effect in comparison to the other prenatal stages. Such as clear situation cannot be obtained from the

  5. Gypenosides Protected the Neural Stem Cells in the Subventricular Zone of Neonatal Rats that Were Prenatally Exposed to Ethanol

    Directory of Open Access Journals (Sweden)

    Lun Dong

    2014-11-01

    Full Text Available Fetal alcohol spectrum disorder (FASD can cause severe mental retardation in children who are prenatally exposed to ethanol. The effects of prenatal and early postnatal ethanol exposure on adult hippocampal neurogenesis have been investigated; however, the effects of prenatal ethanol exposure on the subventricular zone (SVZ have not. Gypenosides (GPs have been reported to have neuroprotective effects in addition to other bioactivities. The effects of GPs on neural stem cells (NSCs in the FASD model are unknown. Here, we test the effect of prenatal ethanol exposure on the neonatal SVZ, and the protection potential of GPs on NSCs in FASD rats. Our results show that prenatal ethanol exposure can suppress the cell proliferation and differentiation of neural stem cells in the neonatal SVZ and that GPs (400 mg/kg/day can significantly increase the cell proliferation and differentiation of neural stem cells inhibited by ethanol. Our data indicate that GPs have neuroprotective effects on the NSCs and can enhance the neurogenesis inhibited by ethanol within the SVZ of neonatal rats. These findings provide new evidence for a potential therapy involving GPs for the treatment of FASD.

  6. Training Probation and Parole Officers to Provide Substance Abuse Treatment: A Field Test.

    Science.gov (United States)

    Cunningham, John A.; Herie, Marilyn; Martin, Garth; Turner, Bonnie J.

    1998-01-01

    The results of field-testing a substance-abuse treatment protocol are reported. Ten probation and parole officers were trained in Structured Relapse Prevention, and 55 clients were treated. Incentives and barriers to treatment are highlighted. The use of this type of field test as a dissemination technique is discussed. (EMK)

  7. Does Prenatal Methamphetamine Exposure Induce Cross-sensitization to Cocaine and Morphine in Adult Male Rats?

    Directory of Open Access Journals (Sweden)

    Romana Šlamberová

    2012-01-01

    Full Text Available The aim of the present study was to examine the cross-sensitization induced by prenatal methamphetamine (MA exposure to challenge dose of cocaine or morphine. Rat mothers received a daily injection of MA (5 mg/kg or saline throughout the gestation period. Adult male offspring (prenatally MA- or saline-exposed were divided to groups with challenge doses of saline (1 ml/kg, cocaine (5 mg/kg or morphine (5 mg/kg. Behavior in unknown environment was examined in Laboras, nociception in Plantar test, and active drug-seeking behavior in conditioned place preference (CPP. Our data demonstrate that cocaine increased the exploratory activity in Laboras test in prenatally saline-exposed, but decreased it in prenatally MA-exposed rats. An analgesic effect of cocaine was demonstrated only by the tail withdrawal and it was independent of the prenatal drug exposure. CPP test showed that prenatal MA exposure induced rather tolerance than sensitization to cocaine. In contrast to cocaine effects, morphine decreased rearing activity in both, prenatally MA-exposed and saline-exposed rats, and locomotion only in prenatally MA-exposed rats in the Laboras. In the Plantar test, the results demonstrated that morphine had an analgesic effect in prenatally saline-exposed rats but this effect was suppressed in prenatally MA-exposed rats. In the CPP test morphine induced drug-seeking behavior, which however was not affected by prenatal drug exposure. Thus, our data demonstrate that there is a cross-effect between prenatal MA exposure and the challenge dose of other drug in adulthood, however drug-seeking behavior is not increased by prenatal MA exposure as we expected.

  8. Noninvasive buccal swab antigen sample and molecular testing provides extended antigen typing for patients with hemoglobinopathies.

    Science.gov (United States)

    Rampersad, Angeli; Hampton, Kisha; Duncan, Natalie; Roberson, Chris; Slayten, Jayanna; Davisson, Suzanne; Aronowitz, Jessica; Shapiro, Amy

    2014-11-01

    To demonstrate the feasibility of performing a noninvasive, molecular-based red blood cell (RBC) antigen test on infants and very young children with sickle cell disease as part of a statewide newborn screening follow-up program. A prospective pilot project was conducted using a noninvasive buccal swab and test kit to perform DNA-based, extended RBC phenotyping in 92 children participating in a newborn hemoglobinopathy screening follow-up program. Reported data include the extended panel of antigens detected by molecular analysis compared with unaffected population estimates. Molecular-based RBC antigen testing was successful, with extended RBC typing generated for all subjects. Molecular testing detected several rare negative or rare positive phenotypes, demonstrating the utility of obtaining an extended antigen panel. This study demonstrates the feasibility of performing antigen testing on buccal swab specimens from children with sickle cell disease as part of a newborn screening follow-up program with the aim of allowing specific unit matching to prevent alloimmunization with RBC transfusions. The general applicability of testing may be limited by a lack of uniform insurance coverage for buccal swab testing, however. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Identifying the HIV Testing Beliefs of Healthcare Provider Staff at a University Student Health Center: An Exploratory Study

    Science.gov (United States)

    Harris, Cornelia A.

    2012-01-01

    This research project examined the views and perceptions of healthcare provider staff regarding HIV testing and the implementation of HIV testing as a routine part of medical practice in a university student health center at a Historically Black College or University (HBCU). This study further explored whether healthcare provider staff promoted…

  10. Depression-Like Effect of Prenatal Buprenorphine Exposure in Rats

    Science.gov (United States)

    Hung, Chih-Jen; Wu, Chih-Cheng; Chen, Wen-Ying; Chang, Cheng-Yi; Kuan, Yu-Hsiang; Pan, Hung-Chuan; Liao, Su-Lan; Chen, Chun-Jung

    2013-01-01

    Studies indicate that perinatal opioid exposure produces a variety of short- and long-term neurobehavioral consequences. However, the precise modes of action are incompletely understood. Buprenorphine, a mixed agonist/antagonist at the opioid receptors, is currently being used in clinical trials for managing pregnant opioid addicts. This study provides evidence of depression-like consequence following prenatal exposure to supra-therapeutic dose of buprenorphine and sheds light on potential mechanisms of action in a rat model involving administration of intraperitoneal injection to pregnant Sprague-Dawley rats starting from gestation day 7 and lasting for 14 days. Results showed that pups at postnatal day 21 but not the dams had worse parameters of depression-like neurobehaviors using a forced swimming test and tail suspension test, independent of gender. Neurobehavioral changes were accompanied by elevation of oxidative stress, reduction of plasma levels of brain-derived neurotrophic factor (BDNF) and serotonin, and attenuation of tropomyosin-related kinase receptor type B (TrkB) phosphorylation, extracellular signal-regulated kinase (ERK) phosphorylation, protein kinase A activity, cAMP response element-binding protein (CREB) phosphorylation, and CREB DNA-binding activity. Since BDNF/serotonin and CREB signaling could orchestrate a positive feedback loop, our findings suggest that the i