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https://www.readbyqxmd.com/read/29661182/women-s-perspectives-on-the-ethical-implications-of-non-invasive-prenatal-testing-a-qualitative-analysis-to-inform-health-policy-decisions
#1
Meredith Vanstone, Alexandra Cernat, Jeff Nisker, Lisa Schwartz
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values...
April 16, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29626747/non-invasive-prenatal-paternity-testing-using-cell-free-fetal-dna-from-maternal-plasma-dna-isolation-and-genetic-marker-studies
#2
REVIEW
Shanshan Zhang, Shuyi Han, Maoxiu Zhang, Yunshan Wang
Invasive prenatal paternity tests can result in miscarriage and congenital malformations; therefore, a non-invasive method of testing is preferable. However, little progress could be made in this field until the introduction of cell-free fetal DNA (cffDNA) in 2009. In this review, two aspects regarding the history and development of non-invasive prenatal paternity testing (NIPAT) are summarized: (1) extraction and enrichment of cffDNA and (2) genetic marker-based studies. Although column-based kits are used widely for NIPAT, some researchers have suggested that an automated method, such as magnetic extraction, generally has a higher cffDNA yield than that of manual column-based extraction; therefore, its popularity might increase in the near future...
April 1, 2018: Legal Medicine
https://www.readbyqxmd.com/read/29626711/non-invasive-prenatal-diagnosis-of-fetal-aneuploidy-using-cell-free-fetal-dna
#3
REVIEW
Barbara Renga
The discovery of cell free fetal DNA in maternal plasma 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. It is thus expected that plasma DNA-based non invasive prenatal testing will play an increasingly important role in the future of obstetric care. The present review summarizes recent advances in non invasive prenatal testing using cell free fetal DNA...
March 20, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29618827/niptmer-rapid-k-mer-based-software-package-for-detection-of-fetal-aneuploidies
#4
Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool - NIPTmer - is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29616835/lessons-learned-from-the-implementation-of-non-invasive-fetal-rhd-screening
#5
Frederik Banch Clausen
Introduction In the fight against hemolytic disease of the fetus and newborn, pregnant RhD negative women are offered antenatal and postnatal anti-D immunoglobulin prophylaxis to prevent the development of antibodies against the fetal D antigen. Antenatal prophylaxis has traditionally been provided to all D negative pregnant women, as the fetal RhD type remains unknown until birth. With noninvasive prenatal testing of cell-free DNA, predicting the fetal RhD type has become highly feasible based on analysis of the fetal RHD gene...
April 4, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29608700/trophoblast-retrieval-and-isolation-from-the-cervix-origins-of-cervical-trophoblasts-and-their-potential-value-for-risk-assessment-of-ongoing-pregnancies
#6
Gerit Moser, Sascha Drewlo, Berthold Huppertz, D Randall Armant
BACKGROUND: Early during human development, the trophoblast lineage differentiates to commence placentation. Where the placenta contacts the uterine decidua, extravillous trophoblast (EVT) cells differentiate and invade maternal tissues. EVT cells, identified by expression of HLA-G, invade into uterine blood vessels (endovascular EVT), as well as glands (endoglandular EVT), and open such luminal structures towards the intervillous space of the placenta. Endoglandular invasion diverts the contents of uterine glands to the intervillous space, while glands near the margin of the placenta that also contain endoglandular EVT cells open into the reproductive tract...
March 28, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29605711/fetal-cell-free-dna-fraction-in-maternal-plasma-for-the-prediction-of-hypertensive-disorders-of-pregnancy
#7
Nobuhiro Suzumori, Akihiko Sekizawa, Takeshi Ebara, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Haruna Izumi, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
OBJECTIVE: The purpose of this study is to compare the fetal fractions during non-invasive prenatal testing (NIPT) in singleton pregnancies according to gestational age and maternal characteristics to evaluate the utility of this parameter for the prediction of pregnancy complications including gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP). STUDY DESIGN: This study was a multicenter prospective cohort study. The present data were collected from women whose NIPT results were negative...
March 26, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29595011/-incidental-findings-of-maternal-genetic-abnormalities-during-non-invasive-prenatal-screening
#8
F Léonard, Renaud Gueben, Robin Gueben, B Grisart, C Van Linthout
The non-invasive prenatal test (NIPT) has recently been added in our clinical practice. Sensitivity and specificity of this method in the common fetal aneuploidies screening is about 99 %. This technique remains a screening test, not a diagnosis test, because false positive or negative results exist. The discordant results are explained by the method itself witch analyses the whole free circulating DNA in the maternal blood: the fetal DNA from trophoblastic cells lysing but also the maternal DNA. Placenta confined mosaic is the main false positive cause reported in the literature...
March 2018: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29580376/high-throughput-non-invasive-prenatal-testing-for-fetal-rhesus-d-status-in-rhd-negative-women-not-known-to-be-sensitised-to-the-rhd-antigen-a-systematic-review-and-economic-evaluation
#9
Pedro Saramago, Huiqin Yang, Alexis Llewellyn, Ruth Walker, Melissa Harden, Stephen Palmer, Susan Griffin, Mark Simmonds
BACKGROUND: High-throughput non-invasive prenatal testing (NIPT) for fetal rhesus (D antigen) (RhD) status could avoid unnecessary treatment with routine anti-D immunoglobulin for RhD-negative women carrying a RhD-negative fetus, although this may lead to an increased risk of RhD sensitisations. OBJECTIVES: To systematically review the evidence on the diagnostic accuracy, clinical effectiveness and implementation of high-throughput NIPT and to develop a cost-effectiveness model...
March 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29575086/application-of-noninvasive-prenatal-testing-in-pregnancies-with-fetal-double-bubble-sign-is-it-feasible
#10
Lv-Yin Huang, Li Zhen, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. METHODS: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies...
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29550971/talking-points-women-s-information-needs-for-informed-decision-making-about-noninvasive-prenatal-testing-for-down-syndrome
#11
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29544746/non-invasive-prenatal-testing-in-detecting-sex-chromosome-aneuploidy-a-large-scale-study-in-xuzhou-area-of-china
#12
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29531245/using-massively-parallel-shotgun-sequencing-of-maternal-plasmatic-cell-free-dna-for-cytomegalovirus-dna-detection-during-pregnancy-a-proof-of-concept-study
#13
Virginie Chesnais, Alban Ott, Emmanuel Chaplais, Samuel Gabillard, Diego Pallares, Christelle Vauloup-Fellous, Alexandra Benachi, Jean-Marc Costa, Eric Ginoux
Human cytomegalovirus (HCMV) primary infections of pregnant women can lead to congenital infections of the fetus that could have severe impacts on the health of the newborn. Recent studies have shown that 10-100 billion DNA fragments per milliliter of plasma are circulating cell-free. The study of this DNA has rapidly expanding applications to non-invasive prenatal testing (NIPT). In this study, we have shown that we can detect viral specific reads in the massively parallel shotgun sequencing (MPSS) NIPT data...
March 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29530134/new-screen-on-the-block-non-invasive-prenatal-testing-for-fetal-chromosomal-abnormalities
#14
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
https://www.readbyqxmd.com/read/29525932/attitudes-toward-and-uptake-of-prenatal-genetic-screening-and-testing-in-twin-pregnancies
#15
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones, Claire N Singletary
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15)...
March 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29507621/non-invasive-prenatal-diagnosis-of-chromosomal-aneuploidies-and-microdeletion-syndrome-using-fetal-nucleated-red-blood-cells-isolated-by-nanostructure-microchips
#16
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
https://www.readbyqxmd.com/read/29484739/a-new-comprehensive-paradigm-for-prenatal-diagnosis
#17
EDITORIAL
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29474437/validation-of-a-snp-based-non-invasive-prenatal-test-to-detect-the-fetal-22q11-2-deletion-in-maternal-plasma-samples
#18
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko
INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further demonstrate the performance of a revised version of the test in a larger set of pregnancy plasma samples...
2018: PloS One
https://www.readbyqxmd.com/read/29462630/pitfalls-in-assessing-chorioamnionicity-novel-observations-and-literature-review
#19
REVIEW
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) Discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in one fetus, or dizygotic twins forming a monochorionic placenta; (2) Separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) False negative and false positive λ sign can arise for various reasons, and in partial monochorionic / dichorionic placentas both T and λ sign may co-exist; (4) Intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; (5) Errors in ascertaining amnionicity by the visualization of thin inter-twin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29449634/self-perceptions-from-people-with-down-syndrome-in-japan
#20
Mio Wakai, Rina Takahashi, Satomi Higashigawa, Masami Ikeda, Junko Yotsumoto, Hironao Numabe
Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). The questionnaire was collected between 30 October 2015 and 26 November 2015. Of 96(32%) responses, 76 (97%) agreed they are happy with their lives...
February 15, 2018: Journal of Human Genetics
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