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Cell free fetal dna

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https://www.readbyqxmd.com/read/29776631/molecular-pathology-in-transfusion-medicine-new-concepts-and-applications
#1
REVIEW
Matthew B Elkins, Robertson D Davenport, Martin H Bluth
Virtually all the red blood cell and platelet antigen systems have been characterized at the molecular level. Highly reliable methods for red blood cell and platelet antigen genotyping are now available. Genotyping is a useful adjunct to traditional serology and can help resolve complex serologic problems. Although red blood cell and platelet phenotypes can be inferred from genotype, knowledge of the molecular basis is essential for accurate assignment. Genotyping of blood donors is an effective method of identifying antigen-negative and/or particularly rare donors...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#2
Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29760053/size-tagged-preferred-ends-in-maternal-plasma-dna-shed-light-on-the-production-mechanism-and-show-utility-in-noninvasive-prenatal-testing
#3
Kun Sun, Peiyong Jiang, Ada I C Wong, Yvonne K Y Cheng, Suk Hang Cheng, Haiqiang Zhang, K C Allen Chan, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo
Cell-free DNA in human plasma is nonrandomly fragmented and reflects genomewide nucleosomal organization. Previous studies had demonstrated tissue-specific preferred end sites in plasma DNA of pregnant women. In this study, we performed integrative analysis of preferred end sites with the size characteristics of plasma DNA fragments. We mined the preferred end sites in short and long plasma DNA molecules separately and found that these "size-tagged" ends showed improved accuracy in fetal DNA fraction estimation and enhanced noninvasive fetal trisomy 21 testing...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29757138/prenatal-non-invasive-foetal-rhd-genotyping-diagnostic-accuracy-of-a-test-as-a-guide-for-appropriate-administration-of-antenatal-anti-d-immunoprophylaxis
#4
Silvia Manfroi, Chiara Calisesi, Pietro Fagiani, Annalisa Gabriele, Gianluca Lodi, Simonetta Nucci, Susanna Pelliconi, Laura Righini, Vanda Randi
BACKGROUND: Foetal RHD genotyping can be predicted by real-time polymerase chain reaction (qPCR) using cell-free foetal DNA extracted from maternal plasma. The object of this study was to determine the diagnostic accuracy and feasibility of non-invasive RHD foetal genotyping, using a commercial multiple-exon assay, as a guide to appropriate administration of targeted antenatal immunoprophylaxis. MATERIAL AND METHODS: Cell-free foetal DNA was extracted from plasma of RhD-negative women between 11-30 weeks of pregnancy...
April 9, 2018: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/29748181/clonal-hematopoiesis-a-new-layer-in-the-liquid-biopsy-story-in-lung-cancer
#5
Joshua Bauml, Benjamin Levy
Cell free DNA (cfDNA) is a unique biospecimen that contains multiple sources of DNA including tumor, germline, fetal, and others. Clonal hematopoiesis, a process that leads to expansion of mutations in peripheral blood cells, is an additional source of DNA that adds a layer of complexity when interpreting results.
May 10, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#6
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29712489/sensitivity-of-prenatal-ultrasound-for-detection-of-trisomy-18
#7
David A Becker, Ying Tang, Adam P Jacobs, Joseph R Biggio, Rodney K Edwards, Akila Subramaniam
OBJECTIVES: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA. MATERIALS AND METHODS: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004-October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal-fetal medicine specialist performed at our institution...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#8
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
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
#9
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
#10
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/29616835/lessons-learned-from-the-implementation-of-non-invasive-fetal-rhd-screening
#11
Frederik Banch Clausen
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 19, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29613853/non-invasive-prenatal-diagnosis-of-paternally-inherited-disorders-from-maternal-plasma-detection-of-nf1-and-cftr-mutations-using-droplet-digital-pcr
#12
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant, Thierry Bienvenu, Emmanuelle Girodon, Dominique Vidaud, France Leturcq, Catherine Costa, Franck Letourneur, Olivia Anselem, Vassilis Tsatsaris, François Goffinet, Géraldine Viot, Michel Vidaud, Juliette Nectoux
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations...
April 25, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29605711/fetal-cell-free-dna-fraction-in-maternal-plasma-for-the-prediction-of-hypertensive-disorders-of-pregnancy
#13
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...
May 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
#14
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/29582008/patient-centered-obstetric-care-in-the-age-of-cell-free-fetal-dna-prenatal-screening
#15
Patricia K Agatisa, Mary Beth Mercer, Ariane Mitchum, Marissa B Coleridge, Ruth M Farrell
Purpose: The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used...
March 2018: Journal of Patient Experience
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
#16
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/29577468/maternal-fetal-cross-talk-through-cell-free-fetal-dna-telomere-shortening-microchimerism-and-inflammation
#17
Shi-Bin Cheng, Sarah Davis, Surendra Sharma
There exists a strong correlation between unscheduled inflammation at the maternal-fetal interface and the continuum of pregnancy complications. In normal pregnancy, immunological tolerance is established to protect the semi-allogeneic fetus. There has been extensive research on how the immunity, endovascular trophoblast migration, and hormonal nexus are orchestrated during pregnancy at the maternal-fetal interface to program a normal pregnancy outcome. It is not clear what contributes to the plasticity of uterine immune tolerance, fetal survial, and long-term post-partum health of the mother and the offspring...
March 25, 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29556382/characterization-of-human-dental-pulp-cells-grown-in-chemically-defined-serum-free-medium
#18
Sakiko Fujii, Katsumi Fujimoto, Noriko Goto, Yoshimitsu Abiko, Asayo Imaoka, Jinchang Shao, Kazuko Kitayama, Masami Kanawa, Agung Sosiawan, Ketut Suardita, Fusanori Nishimura, Yukio Kato
Dental pulp cells (DPCs) are promising candidates for use as transplantable cells in regenerative medicine. However, ex vivo expansion of these cells typically requires culture media containing fetal bovine serum, which may cause infection and immunological reaction following transplantation. In addition, the proliferation and differentiation of DPCs markedly depend upon serum batches. Therefore, the present study examined whether DPCs could be expanded under serum-free conditions. DPCs obtained from four donors were identified to proliferate actively in the serum-free medium, STK2, when compared with those cells in control medium (Dulbecco's modified Eagle's medium containing 10% serum)...
April 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29550862/have-we-done-our-last-amniocentesis-updates-on-cell-free-dna-for-down-syndrome-screening
#19
REVIEW
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29545257/advanced-whole-genome-sequencing-and-analysis-of-fetal-genomes-from-amniotic-fluid
#20
Qing Mao, Robert Chin, Weiwei Xie, Yuqing Deng, Wenwei Zhang, Huixin Xu, Rebecca Yu Zhang, Quan Shi, Erin E Peters, Natali Gulbahce, Zhenyu Li, Fang Chen, Radoje Drmanac, Brock A Peters
BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. METHODS: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform...
April 2018: Clinical Chemistry
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