Relevant bibliographies by topics / Prenatal diagnostic testing

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Prenatal diagnostic testing'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Prenatal diagnostic testing"

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Baranov, Vladislav Sergeevich, and Tatyana Vladimirovna Kuznetzova. "Novel options in Prenatal Genetic Diagnostic." Journal of obstetrics and women's diseases 64, no. 2 (2015): 4–12. http://dx.doi.org/10.17816/jowd6424-12.

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Modern molecular approaches to prenatal diagnostic of inherited diseases are briefly reviewed. Advantages and limitations of molecular methods for analysis of chromosomal anomalies (QF-PCR, aCGH, NGS) are considered in line with conventional prenatal karyotyping. The special attention is paid to efficacy, limitations and diagnostic options of noninvasive prenatal genetic testing (NIPT). Some particular problems of its widespread implication into routine clinical practice are discussed. State of art in preimplantation genetic diagnostics (PGD) and obvious great opportunities of preconceptional
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Olenev, Anton S., Ekaterina N. Songolova, and Alfina A. Yakshibaeva. "Noninvasive prenatal testing in megacity." City Healthcare 2, no. 2 (2021): 75–83. http://dx.doi.org/10.47619/2713-2617.zm.2021.v2i2;75-83.

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Introduction. The article presents an analysis of the use of non-invasive prenatal testing for chromosomal abnormalities in the fetal extracellular DNA in the blood of pregnant women in Moscow. Materials and methods. When processing materials and research results, authors considered all available clinical data: findings of an ultrasound examination, medical history and results of additional laboratory tests. Results. The article presents results of invasive prenatal diagnostics and pregnancy outcomes in patients with high NIPT risks. Discussion. Authors analyzed diagnostic capabilities of NIPT
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Palomares, Kristy, Elena Ashkinadze, Christina Duzyj, and Todd Rosen. "464: Trends in invasive prenatal diagnostic testing." American Journal of Obstetrics and Gynecology 214, no. 1 (2016): S255. http://dx.doi.org/10.1016/j.ajog.2015.10.506.

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Mora, Bridget. "Prenatal Testing and the Denial of Care." Ethics & Medics 43, no. 2 (2018): 1–4. http://dx.doi.org/10.5840/em20184323.

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Doctors and parents may have very different motivations when it comes to prenatal screening. Parents often agree to prenatal tests without enough knowledge about their purpose to give genuine informed consent. Parents may not understand the difference between screening and diagnostic tests or be prepared for the consequences of a poor diagnosis or prognosis. Very few genetic conditions can be treated prenatally, so if a disability is found, the “cure” proposed by the medical team is frequently abortion. In our utilitarian culture, prenatal screening has increasingly become a search-and-destroy
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Petersen, O. B., I. Vogel, C. Ekelund, J. Hyett, and A. Tabor. "Potential Diagnostic Consequences of Applying Noninvasive Prenatal Testing." Obstetrical & Gynecological Survey 69, no. 6 (2014): 321–23. http://dx.doi.org/10.1097/01.ogx.0000451482.18231.c0.

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Larion, Sebastian, Malgorzata Mlynarczyk, Letty Romary, Alfred Z. Abuhamad, and Steven L. Warsof. "Noninvasive Prenatal Testing Decreased Diagnostic Testing but Not First-Trimester Screening." Obstetrics & Gynecology 123 (May 2014): 88S. http://dx.doi.org/10.1097/01.aog.0000447419.09188.0a.

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Williams, John, Steve Rad, Sarah Beauchamp, et al. "Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing." American Journal of Obstetrics and Gynecology 213, no. 1 (2015): 102.e1–102.e6. http://dx.doi.org/10.1016/j.ajog.2015.04.005.

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Pös, Ondrej, Jaroslav Budiš, and Tomáš Szemes. "Recent trends in prenatal genetic screening and testing." F1000Research 8 (May 31, 2019): 764. http://dx.doi.org/10.12688/f1000research.16837.1.

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Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage. Rapid progress of modern high-throughput molecular technologies along with the discovery of cell-free fetal DNA in maternal plasma led to novel screening methods for fetal chromosomal aneuploidies. Such tests are referred to as non-invasive prenatal tests (NIPTs), non-invasive prenatal screening, or prenatal cell-free DNA screening. Owing to many advantages, the adoption of NIPT in routine clinical practice was very rapid and
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Hyett, Jon. "Diagnostic tests: Non-invasive prenatal testing for Down syndrome." Australian Prescriber 37, no. 2 (2014): 51–55. http://dx.doi.org/10.18773/austprescr.2014.022.

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Evans, Mark I., Ronald J. Wapner, and Richard L. Berkowitz. "Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor." American Journal of Obstetrics and Gynecology 215, no. 3 (2016): 298–305. http://dx.doi.org/10.1016/j.ajog.2016.04.029.

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Dissertations / Theses on the topic "Prenatal diagnostic testing"

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Tzafettas, Marilena. "Women's decision making process regarding prenatal diagnostic testing." Thesis, London Metropolitan University, 2017. http://repository.londonmet.ac.uk/1244/.

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Objective: Expanding the original scope of the study, which was to explore the decision-making process of pregnant women in the uptake of invasive diagnostic tests - amniocentesis and Chorionic Villus Sampling (CVS) – and taking into account the latest emergence of a Noninvasive Prenatal Testing, NIPT, the primary goal of this study was to explore factors that influence women’s decision to have an invasive, a non-invasive or no further testing at all. Design and sample: The Prenatal Decision Making Questionnaire (PDMQ) developed for the purposes of this study. Following a pilot test and factor
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Lawson, Karen. "Socially accepted, socially expected, normative attitudes governing prenatal diagnostic testing use." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/NQ40379.pdf.

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Tweneboa, Kodua Ama. "Evaluation of the Use of Non-Invasive Prenatal Testing In Ontario, Canada, 2016-2020." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42622.

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Background: There are few studies on the uptake of non-invasive prenatal screening, but those available suggest substantial variation in uptake in the initial years in which it was offered. There is a need to update the earlier evidence and determine whether there has been any change in usage trends as the number of users have increased. This will help inform policy makers about NIPT uptake under currently existing policies and guidelines which can help inform whether to maintain or refine policies on NIPT. Objectives: The primary objective of this thesis was to investigate recent trends in
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Harvey, Toni. "An exploration of the meanings a small group of women placed on their experiences of screening and prenatal diagnostic testing and their construction of risk, following a negative result from amniocentesis." Thesis, University of East Anglia, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.441599.

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Miry, Claire. "Aspects pratiques et enjeux éthiques du dépistage prénatal non invasif de la trisomie 21 : mise au point et enquête auprès de professionnels de santé et de patientes." Thesis, Aix-Marseille, 2016. http://www.theses.fr/2016AIXM5030.

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La place du Dépistage Prénatal Non Invasif (DPNI) n’est pas encore clairement définie dans le dépistage prénatal de la trisomie 21 en France. Nos objectifs étaient d’évaluer la compréhension, les connaissances, et l’attitude de professionnels de santé et de patientes concernant le DPNI.Une étude prospective multicentrique par questionnaire auprès de patientes enceintes et de professionnels de santé a été menée dans différents hôpitaux français entre février 2014 et juillet 2015.Sur les 260 questionnaires recueillis chez les professionnels, le score moyen de connaissances était 5,38±2,83(sur 10
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Lee, Sansan. "Genetic counseling perspectives on prenatal array CGH testing." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23259.

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LaPan, Amy C. "Prenatal testing, birth outcomes, and views of social workers." online access from Digital Dissertation Consortium, 2005. http://libweb.cityu.edu.hk/cgi-bin/er/db/ddcdiss.pl?3202790.

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Strange, Heather. "Non-invasive prenatal diagnosis and testing : perspectives on the emergence and translation of a new prenatal testing technology." Thesis, Cardiff University, 2015. http://orca.cf.ac.uk/90887/.

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This thesis presents findings from a qualitative study of the emergence and early clinical translation of non-invasive prenatal diagnosis (NIPD) in the UK. Drawing from interviews with a range of experts and users I track the enrolment and translation of this new prenatal testing technology across a variety of clinical and social spaces. I show how encounters with NIPD prompt deep critical examination of the moral, social and political implications - not only of the technology - but of the established clinical practices (routine and specialised prenatal testing) and specific policy contexts (p
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Leung, Wing-cheong, and 梁永昌. "Rapid aneuploidy testing or traditional karyotyping, or both, in prenatal diagnosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4520553X.

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Leonard, Lynne. "Testing women as mothers : the policy and practice of prenatal HIV testing." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84280.

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The convergence of compelling evidence that transmission of HIV from a pregnant woman living with HIV to her foetus can be significantly interrupted due to advances in antiretroviral and obstetrical interventions, and worrisome epidemiologic data documenting a rise in HIV infection among Canadian women, spurred the development in Canada and world wide of policies and programmes aimed at increasing the number of pregnant women who are tested for HIV. Responding to innovative therapy reducing perinatal HIV transmission risk by increasing the number of pregnant women who agree to test for
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Books on the topic "Prenatal diagnostic testing"

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Monitoring of pregnancy and prediction of birth-date: Enzymatic and ultrasonographic methods. Parthenon Pub. Group, 1994.

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Nightingale, Elena O. Before birth: Prenatal testing for genetic disease. Harvard University Press, 1990.

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1947-, Burke B. Meredith, ed. Prenatal testing: A sociological perspective. Bergin & Garvey, 1994.

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Wexler, Keith. The ABC's of prenatal diagnosis: A guide to pregnancy testing and issues. Genassist Pub. Inc., 1994.

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Parry, Vivienne. The antenatal testing handbook: The complete guide to testing in pregnancy. Pan Books, 1993.

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Leuzinger-Bohleber, Marianne. The Janus face of prenatal diagnostics: A European study bridging ethics, psychoanalysis, and medicine. Karnac, 2008.

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Community genetics and genetic alliances: Eugenics, carrier testing, and networks of risk. Routledge, 2009.

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United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space. Prenatal genetic testing technology: Science, policy, and ethics : hearing before the Subcommittee on Science, Technology, and Space of the Committee on Commerce, Science, and Transportation, United States Senate, One Hundred Eighth Congress, first session, November 17, 2004. U.S. Government Printing Office, 2013.

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Mathiesen, Amber, and Kali Roy. Prenatal Diagnosis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.003.0004.

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Prenatal diagnosis is the term used to describe a set of tests that are designed to determine whether a specific genetic condition is present in a fetus. This chapter provides a detailed description of procedures as well as the types of testing options available for prenatal diagnosis. The two techniques for prenatal diagnosis, amniocentesis and chorionic villus sampling, are described in detail, including their procedures, risks, limitations, and their use in twin gestations. The prenatal diagnosis testing options are also described in detail, including karyotype, fluorescence in situ hybridi
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Mathiesen, Amber, and Kali Roy. Foundations of Perinatal Genetic Counseling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.001.0001.

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Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic screening and diagnosis, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling, including t
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Book chapters on the topic "Prenatal diagnostic testing"

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Wiszniewska, Joanna, and Christine M. Eng. "Molecular Prenatal Diagnostic Testing." In Modern Clinical Molecular Techniques. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-2170-2_23.

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Verp, Marion S. "Prenatal Genetic Screening and Diagnostic Testing." In Prenatal and Preimplantation Diagnosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-18911-6_1.

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Simpson, Joe Leigh. "Preimplantation Genetic Screening and Diagnostic Testing." In Prenatal and Preimplantation Diagnosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-18911-6_2.

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Arnold, Kate C., and Caroline J. Flint. "Prenatal Diagnostic Testing for Genetic Disorders." In Obstetrics Essentials. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-57675-6_36.

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Abramsky, Lenore. "Counselling prior to prenatal testing." In Prenatal Diagnosis. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4899-3027-9_5.

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Zimmerman, Rebekah S., Jennifer Eccles, Chaim Jalas, Nathan R. Treff, and Richard T. Scott. "Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders." In Prenatal Diagnosis. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8889-1_4.

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Yotsumoto, Junko. "Noninvasive Prenatal Testing and Genetic Counseling." In Fetal Morph Functional Diagnosis. Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-8171-7_18.

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Jalal, Syed M., Adewale Adeyinka, and Alan Thornhill. "Chromosome Analysis in Prenatal Diagnosis." In Handbook of Clinical Laboratory Testing During Pregnancy. Humana Press, 2004. http://dx.doi.org/10.1007/978-1-59259-787-1_6.

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Pergament, Eugene. "Prenatal Testing: Screening, Diagnosis, and Preimplantation Genetic Diagnosis." In Molecular Genetics and Personalized Medicine. Springer New York, 2011. http://dx.doi.org/10.1007/978-1-61779-530-5_7.

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Glorikian, Harry, and Malorye Allison Branca. "Baby Testing Boom: Genomics-Based Prenatal Diagnostics." In MoneyBall Medicine. Productivity Press, 2017. http://dx.doi.org/10.1201/b21953-4.

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Conference papers on the topic "Prenatal diagnostic testing"

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Lillicrap, D., A. R. Giles, J. J. A. Holden, and B. N. White. "THE RELATIVE EFFICACY OF GENETIC ANALYSIS AND COAGULATION TESTING IN THE DIAGNOSIS OF CARRIERS OF HEMOPHILIA A." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644010.

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This study has assessed the relative benefits of restriction fragment length polymorphism (RFLP) linkage and coagulation testing in the diagnosis of carriers of hemophilia A. 221 samples from 55 families have been studied for intragenic and flanking RFLPs. All samples were tested for the Factor VIII intragenic Bell RFLP and for the flanking marker St 14. 83% of obligate carrier females were heterozygous at oneor both of these two polymorphicsites. However, only38% of these women were heterozygous at the intragenic site and might safely be offered prenatal diagnosis using this marker for the he
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