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Journal articles on the topic 'Prenatal diagnostic testing'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

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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2

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Dickerson, Cheryl. "An Overview of Prenatal Genetic Screening and Diagnostic Testing." North Carolina Medical Journal 74, no. 6 (2013): 518–21. http://dx.doi.org/10.18043/ncm.74.6.518.

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12

Echevarria, Mónica, Carmen Comas, Bernat Serra, and MaAngeles Rodríguez. "Noninvasive Prenatal Testing for Fetal Aneuploidy." Donald School Journal of Ultrasound in Obstetrics and Gynecology 7, no. 4 (2013): 443–52. http://dx.doi.org/10.5005/jp-journals-10009-1316.

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ABSTRACT After decades of research with a wide range of putative methodologies, at last a commercially viable technique has emerged for the noninvasive prenatal testing (NIPT) for the most common fetal aneuploidies, the massively parallel shotgun sequencing (MPSS). Recently, a number of groups have validated this technology to accurately detect most common trisomies as early as the 10th week of pregnancy with results available 1 to 2 weeks after maternal sampling. Several molecular techniques have been proposed for the detection of trisomies 21, 18 and 13, mainly by two different approaches in

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13

Vinkšel, M., M. Volk, B. Peterlin, and L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p." Balkan Journal of Medical Genetics 22, no. 1 (2019): 11–20. http://dx.doi.org/10.2478/bjmg-2019-0012.

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AbstractTetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosom

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14

Evans, Mark I., Ming Chen, and David W. Britt. "Understanding False Negative in Prenatal Testing." Diagnostics 11, no. 5 (2021): 888. http://dx.doi.org/10.3390/diagnostics11050888.

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A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child beyond expectation. False negatives are not a new thing because of emerging new tests in the field of reproductive, especially prenatal, genetics but has occurred throughout the evolution of prenatal screening and diagnosis programs. In this paper we aim to discuss the basic differences between screening and diagnosis, the trade-off

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15

Muggli, Evelyne E., and Jane L. Halliday. "Prenatal diagnostic testing and Down syndrome in Victoria 1992-2002." Australian and New Zealand Journal of Public Health 28, no. 5 (2004): 465–70. http://dx.doi.org/10.1111/j.1467-842x.2004.tb00029.x.

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Muggli, Evelyne E., and Jane L. Halliday. "Prenatal diagnostic testing and Down syndrome in Victoria 1992–2002." Australian and New Zealand Journal of Public Health 28, no. 5 (2004): 465–70. http://dx.doi.org/10.1111/j.1467-842x.2004.tb00946.x.

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17

Muller, Cécile, and Linda D. Cameron. "It's complicated- Factors predicting decisional conflict in prenatal diagnostic testing." Health Expectations 19, no. 2 (2015): 388–402. http://dx.doi.org/10.1111/hex.12363.

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18

Awomolo, Adeola, Kristy Palomares, Guadalupe Herrera Garcia, Todd Rosen, Christina Duzyj, and Elena Ashkinadze. "Trends in invasive prenatal diagnostic testing at a single institution." Prenatal Diagnosis 38, no. 10 (2018): 735–39. http://dx.doi.org/10.1002/pd.5290.

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19

Oddoux, Carole, Elsa Reich, Felicia Axelrod, et al. "Prenatal diagnostic testing for familial dysautonomia using linked genetic markers." Prenatal Diagnosis 15, no. 9 (1995): 817–26. http://dx.doi.org/10.1002/pd.1970150905.

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20

Ahmed, Khuram, Mushtaq Ahmed, Barbara Potrata, et al. "Patient attitudes towards prenatal diagnostic testing for inherited retinal disease." Prenatal Diagnosis 35, no. 9 (2015): 913–18. http://dx.doi.org/10.1002/pd.4644.

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21

Dawson, AJ, J. Chernos, J. McGowan-Jordan, et al. "CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy." Clinical Genetics 79, no. 2 (2010): 118–24. http://dx.doi.org/10.1111/j.1399-0004.2010.01547.x.

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22

Robinson, G. Erlick, J. A. M. Johnson, R. D. Wilson, and M. Gajjar. "Anxiety reduction after early and mid-trimester prenatal diagnostic testing." Archives of Women's Mental Health 1, no. 1 (1998): 39–44. http://dx.doi.org/10.1007/s007370050004.

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23

Baptiste, Caitlin, Desmond Sutton, Taylor Jacob, et al. "904 Prenatal genetic diagnostic testing during the COVID-19 pandemic." American Journal of Obstetrics and Gynecology 224, no. 2 (2021): S560—S561. http://dx.doi.org/10.1016/j.ajog.2020.12.927.

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24

Mitrevska, Roberta, and Rozalinda Isjanovska. "ATTITUDES OF WOMEN IN THE REPUBLIC OF MACEDONIA FOR PRENATAL TESTING AS A PREVENTIVE PUBLIC HEALTH PROCEDURE." INTERNATIONAL JOURNAL OF RESEARCH IN EDUCATION METHODOLOGY 5, no. 3 (2014): 741–49. http://dx.doi.org/10.24297/ijrem.v5i3.3899.

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Prenatal screening and diagnostic tests are associated with great anticipation, many questions, and different attitudes for the condition of the fetus, as well as providing important information about the health and condition of the future baby. The study included 507 respondents.The aim of the research is to determine the attitudes of Macedonian women for prenatal testing as preventive public health procedures, depending on their demographic characteristics.The research is an analytical sectional study whose results were collected by a questionnaire that was made for the purposes of the study

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25

Beksac, Mehmet Sinan, Atakan Tanacan, Duygu Aydin Hakli, et al. "Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy." Journal of Pregnancy 2018 (July 30, 2018): 1–5. http://dx.doi.org/10.1155/2018/9718316.

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Aim. To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods. We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups accordin

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26

Kang, Jiun. "The Promise of Whole-exome Sequencing for Prenatal Genetic Diagnosis." Current Pharmacogenomics and Personalized Medicine 17, no. 1 (2020): 25–31. http://dx.doi.org/10.2174/1875692117666191106105918.

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Prenatal genetic diagnosis provides information for pregnancy and perinatal decision- making and management. Cytogenetic testing methods, including chromosomal microarray analysis and gene panels, have evolved to become a part of routine laboratory testing, providing valuable diagnostic and prognostic information for prenatal diagnoses. Despite this progress, however, cytogenetic analyses are limited by their resolution and diagnosis is only possible in around 40% of the dysmorphic fetuses. The advent of nextgeneration sequencing (NGS), whole-genome sequencing or whole-exome sequencing has rev

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27

Dudareva, Yu A., and A. A. Shipilov. "Efficacy of prenatal diagnostic in mothers of children with chromosomal aberrations diagnosed postnatally." Russian Journal of Woman and Child Health 4, no. 1 (2021): 42–45. http://dx.doi.org/10.32364/2618-8430-2021-4-1-42-45.

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Aim: to assess the efficacy of prenatal screening in women those children were diagnosed with chromosomal aberrations postnatally. Patients and Methods: this descriptive cross-sectional retrospective study was performed to analyze medical records, obstetric gynecological database, and the results of prenatal screening in women (Altay Region residents) who gave birth to children with chromosomal aberrations in 2017–2019. The examination also included the calculation of the individual risk of fetal chromosomal aberrations using Astraia and PRISCA software. Results: in 2017–2019, sixty-nine child

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28

Robinson, G. Erlick, M. L. Carr, M. P. Olmsted, and C. Wright. "Psychological reactions to pregnancy loss after prenatal diagnostic testing: Preliminary results." Journal of Psychosomatic Obstetrics & Gynecology 12, no. 3 (1991): 181–91. http://dx.doi.org/10.3109/01674829109078000.

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29

Warsof, Steven L., Sebastian Larion, and Alfred Z. Abuhamad. "Overview of the impact of noninvasive prenatal testing on diagnostic procedures." Prenatal Diagnosis 35, no. 10 (2015): 972–79. http://dx.doi.org/10.1002/pd.4601.

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30

Caughey, Aaron B., A. Eugene Washington, Virginia Gildengorin, and Miriam Kuppermann. "Assessment of Demand for Prenatal Diagnostic Testing Using Willingness to Pay." Obstetrics & Gynecology 103, no. 3 (2004): 539–45. http://dx.doi.org/10.1097/01.aog.0000116212.89556.42.

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31

Joshi, N., J. L. Chan, E. Wang, et al. "Prenatal diagnostic testing in patients with fertility treatments, differences in indications." Fertility and Sterility 110, no. 4 (2018): e259-e260. http://dx.doi.org/10.1016/j.fertnstert.2018.07.739.

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32

Abdo, Nour, Nadia Ibraheem, Nail Obeidat, et al. "Knowledge, Attitudes, and Practices of Women Toward Prenatal Genetic Testing." Epigenetics Insights 11 (January 2018): 251686571881312. http://dx.doi.org/10.1177/2516865718813122.

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Objectives: We aim to address public knowledge, attitudes, and practices relative to prenatal genetic testing as a starting point for policy development in Jordan. Study design: We conducted a cross-sectional prenatal genetic testing knowledge, attitudes, and practices survey with 1111 women recruited at obstetrics and gynecology clinics nationwide. Data were analyzed using a variety of descriptive and inferential statistical tests. Results: The overwhelming majority (>94%) of participants considered prenatal genetic testing, particularly non-invasive prenatal genetic screening, procedures

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33

Prosen, Tracy, and Lisa Gill. "Indications for Invasive Prenatal Testing before and after Noninvasive Prenatal Screening." American Journal of Perinatology 34, no. 11 (2017): 1084–87. http://dx.doi.org/10.1055/s-0037-1603818.

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Objective To evaluate changes in indications for genetic testing after introduction of noninvasive prenatal screening (NIPS) into a single center. Pregnancy outcomes and results of testing were evaluated. Study Design It was a retrospective cohort study. Medical records were reviewed for all invasive testing procedures from January 1, 2007, to December 31, 2015. NIPS was introduced in February 1, 2012. Indications were compared before and after that date. Results of genetic testing and pregnancy outcome were also obtained from the medical records where available. Results A total of 2,066 invas

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34

Hui, Lisa, Alice Poulton, Eliza Kluckow, et al. "A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort." Human Reproduction 35, no. 3 (2020): 694–704. http://dx.doi.org/10.1093/humrep/dez286.

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Abstract STUDY QUESTION What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with &gt;73 000 annual births? SUMMARY ANSWER The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826), with a significant decrease in the detection of major chromosome abnormalities with later developmental stage, from 50.9% to 21.3% to 15.6% of tests in the miscarriage, prenatal and postnatal cohorts, respectively. WHAT IS KNOWN ALREADY Over the pas

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35

Di Mattei, Valentina, Federica Ferrari, Gaia Perego, Valentina Tobia, Fabio Mauro, and Massimo Candiani. "Decision-making factors in prenatal testing: A systematic review." Health Psychology Open 8, no. 1 (2021): 205510292098745. http://dx.doi.org/10.1177/2055102920987455.

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This review examines the factors that affect the decision-making process of parental couples evaluating prenatal screening and diagnostic tests. A systematic search was performed using PubMed and PsycInfo databases. The 46 included studies had to: investigate the decision-making process about prenatal testing; focus on tests detecting trisomy 21, 18, 13, and abnormalities of sex chromosomes; be published in English peer-reviewed journals. The decision-making process seems composed of different levels: an individual level with demographic, clinical, and psychological aspects; a contextual level

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36

Mardy, Anne H., Julia Zachary, Rebecca Clifton, Karen Wou, Brynn Levy, and Ronald J. Wapner. "186: Non-invasive prenatal testing (NIPT) versus diagnostic testing for evaluation of fetal structural anomalies." American Journal of Obstetrics and Gynecology 216, no. 1 (2017): S121. http://dx.doi.org/10.1016/j.ajog.2016.11.090.

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37

Lindquist, A., A. Poulton, J. Halliday, and L. Hui. "Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing." Ultrasound in Obstetrics & Gynecology 51, no. 4 (2018): 487–92. http://dx.doi.org/10.1002/uog.18979.

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38

LARCO, PHILIPPE, EDDY JEAN BAPTISTE, KEDDY MOISE, et al. "171-LB: Evaluation of Universal Diabetes Diagnostic Testing at First Prenatal Visit." Diabetes 69, Supplement 1 (2020): 171—LB. http://dx.doi.org/10.2337/db20-171-lb.

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39

Rosser, E., S. M. Huson, and G. Norbury. "Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease." Lancet 343, no. 8895 (1994): 487–88. http://dx.doi.org/10.1016/s0140-6736(94)92740-5.

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40

Berisha, Stela Z., Shashi Shetty, Thomas W. Prior, and Anna L. Mitchell. "Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects." Birth Defects Research 112, no. 4 (2020): 293–306. http://dx.doi.org/10.1002/bdr2.1648.

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41

Davis, Jay, Lisa Pastore, Gina F. Milone, Malini D. Persad, Diana Garretto, and Kimberly Herrera. "How Well Do Patients Clearly Understand Invasive Prenatal Genetic Diagnostic Testing? [38L]." Obstetrics & Gynecology 133, no. 1 (2019): 139S. http://dx.doi.org/10.1097/01.aog/01.aog.0000559271.47889.6f.

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42

Wilson, K. L., J. L. Czerwinski, J. M. Hoskovec, et al. "NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy." Journal of Genetic Counseling 22, no. 1 (2012): 4–15. http://dx.doi.org/10.1007/s10897-012-9545-3.

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43

Bakker, E., M. J. Van der Wielen, E. Voorhoeve, et al. "Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases." Journal of Medical Genetics 33, no. 1 (1996): 29–35. http://dx.doi.org/10.1136/jmg.33.1.29.

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44

Pieters, J. J. P. M., A. J. A. Kooper, A. Geurts van Kessel, D. D. M. Braat, and A. P. T. Smits. "Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility." ISRN Obstetrics and Gynecology 2011 (December 12, 2011): 1–10. http://dx.doi.org/10.5402/2011/807106.

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Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), a

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45

Khalifeh, Adeeb, Stuart Weiner, Vincenzo Berghella, and Alan Donnenfeld. "Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing." Fetal Diagnosis and Therapy 39, no. 4 (2015): 292–96. http://dx.doi.org/10.1159/000441028.

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Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing. Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure. Results: There were 88,135 deliveries and 6,080

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46

Kessels, Sharon, Skye Newton, Drew Carter, and Tracy Merlin. "VP06 The Effectiveness And Ethics Of Prenatal Testing For Cystic Fibrosis." International Journal of Technology Assessment in Health Care 34, S1 (2018): 160. http://dx.doi.org/10.1017/s0266462318003379.

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Introduction:Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, occurring in one out of every 2,500–2,800 births worldwide, and is associated with a high burden of disease. In Australia, prenatal testing for CF is indicated for pregnant couples identified as carriers or when a fetus is found to have an ‘echogenic bowel’ (FEB). We aimed to determine the effectiveness of prenatal CF testing and to assess ethical dimensions. A key challenge in assessing a prenatal test is selecting appropriate endpoints to indicate clinical effectiveness.Methods:A systematic revie

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47

Geifman-Holtzman, Ossie, and Janet Ober Berman. "Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood." Expert Review of Molecular Diagnostics 8, no. 6 (2008): 727–51. http://dx.doi.org/10.1586/14737159.8.6.727.

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Larion, Sebastian, Steven L. Warsof, Letty Romary, Margaret Mlynarczyk, David Peleg, and Alfred Z. Abuhamad. "Association of Combined First-Trimester Screen and Noninvasive Prenatal Testing on Diagnostic Procedures." Obstetrics & Gynecology 123, no. 6 (2014): 1303–10. http://dx.doi.org/10.1097/aog.0000000000000275.

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49

Petrou, Stavros, and Miranda Mugford. "Should prenatal diagnostic testing be offered to all pregnant women on economic grounds?" Lancet 363, no. 9405 (2004): 258–59. http://dx.doi.org/10.1016/s0140-6736(03)15416-5.

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50

Stoll, Katie, and Mary E. Norton. "Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy." Seminars in Perinatology 42, no. 5 (2018): 296–302. http://dx.doi.org/10.1053/j.semperi.2018.07.014.

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