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https://www.readbyqxmd.com/read/28812875/one-pot-synthesis-of-size-and-composition-controlled-ni-rich-nipt-alloy-nanoparticles-in-a-reverse-micro-emulsion-system-and-their-application
#1
Gregory M Biausque, Paco Laveille, Dalaver H Anjum, Bei Zhang, Xixiang Zhang, Valérie Caps, Jean-Marie Basset
Bimetallic nanoparticles have been the subject of numerous research studies in the nanotechnology field, in particular for catalytic applications. Control of the size, morphology and composition has become a key challenge due to the relationship between these parameters and the catalytic behavior of the particles in terms of activity, selectivity and stability. Here, we present a one-pot air synthesis of 2 nm Ni9Pt1 nanoparticles with a narrow size distribution. Control of the size and composition of the alloy particles is achieved at ambient temperature, in the aqueous phase, by the simultaneous reduction of nickel and platinum precursor with hydrazine, using a reverse micro-emulsion system...
August 16, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#2
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28696552/clinical-experience-with-a-single-nucleotide-polymorphism-based-noninvasive-prenatal-test-for-five-clinically-significant-microdeletions
#3
Kimberly Martin, Sushma Iyengar, Akshita Kalyan, Christine Lan, Alexander L Simon, Melissa Stosic, Katie Kobara, Harini Ravi, Tina Truong, Allison Ryan, Zachary P Demko, Peter Benn
Single-nucleotide polymorphism (SNP)-based noninvasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of SNP-based NIPT in 80,449 referrals for 22q11.2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a one-year period, and compared the original screening protocol with a revision that reflexively sequenced high-risk calls at a higher depth of read...
July 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28685502/the-impact-of-non-invasive-prenatal-testing-on-anxiety-in-women-considered-at-high-or-low-risk-for-aneuploidy-after-combined-first-trimester-screening
#4
Zara Richmond, Ron Fleischer, Maya Chopra, Jason Pinner, Mario D'Souza, Yelena Fridgant, Jonathan Hyett
OBJECTIVE: The aim of this study was to (1) examine the psychological impact of non-invasive prenatal testing (NIPT) in women with a high-risk (≥1:300) and low-risk (≤1:301) result on combined First Trimester Screening (cFTS); and (2) to examine factors influencing anxiety and decision-making in both risk populations. METHOD: Questionnaires and structured interviews were administered to low (n = 50) and high (n =63) risk women at the time of NIPT blood draw (point A) and again at least one week after receiving their NIPT result (point B)...
July 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#5
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28681452/views-of-the-obstetric-profession-on-non-invasive-prenatal-testing-in-aotearoa-new-zealand-a-national-survey
#6
Sara K Filoche, Beverley Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Aotearoa New Zealand (NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service. AIM: To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. METHODS: An anonymous online survey combining Likert scales and free text was designed to assess current practice, knowledge, ethical considerations, counselling and views toward public funding of NIPT...
July 6, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28677880/study-of-the-in-vitro-and-in-vivo-metabolism-of-the-tryptamine-5-meo-mipt-using-human-liver-microsomes-and-real-case-samples
#7
Katharina Elisabeth Grafinger, Marianne Hädener, Stefan König, Wolfgang Weinmann
The synthetic tryptamine 5-methoxy-N-methyl-N-isopropyltryptamine (5-MeO-MiPT) has recently been abused as a hallucinogenic drug in Germany and Switzerland. This study presents a case of 5-MeO-MiPT intoxication and the structural elucidation of metabolites in pooled human liver microsomes (pHLM), blood, and urine. Microsomal incubation experiments were performed using pHLM to detect and identify in vitro metabolites. In August 2016, the police encountered a naked man, agitated and with aggressive behavior on the street...
July 5, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28669128/phenomenology-of-pregnancy-and-the-ethics-of-abortion
#8
Fredrik Svenaeus
In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner...
July 1, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28667567/women-s-experience-with-non-invasive-prenatal-testing-and-emotional-well-being-and-satisfaction-after-test-results
#9
Rachèl V van Schendel, G C M Lieve Page-Christiaens, Lean Beulen, Caterina M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H W Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
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...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28647786/mosaic-embryo-transfer-after-oocyte-in-vitro-maturation-in-combination-with-non-invasive-prenatal-testing-nipt-first-report-of-a-euploid%C3%A2-live-birth
#10
Naomi Inoue, Rosmary Lopez, Andrea Delgado, Denisse Nuñez, Jimmy Portella, Luis Noriega-Hoces, Luis Guzmán
PURPOSES: The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). METHODS: 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. RESULTS: One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#11
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
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...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#12
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28608362/chromosomal-microarray-as-a-primary-diagnostic-genomic-tool-for-pregnancies-defined-as-being-at-increased-risk-within-a-population-based-combined-first-trimester-screening-program
#13
Ida Vogel, Olav Bjørn Petersen, Rikke Christensen, Jon Hyett, Stina Lou, Else Marie Vestergaard
OBJECTIVE: To evaluate the impact of using high-resolution chromosomal microarray (CMA) as the standard diagnostic approach to examine for genomic imbalances in pregnancies with increased risk (≥1 in 300) defined through combined first trimester screening (cFTS). METHODS: A cohort of 575 consecutive pregnancies that had cFTS risk ≥1:300 through a publicly funded population based screening program in the Central and Northern Regions of Denmark between September 2015 and September 2016...
June 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#14
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28586143/current-status-of-non-invasive-prenatal-testing-in-japan
#15
Osamu Samura, Akihiko Sekizawa, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazuhisa 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, Yasuhiro Kido, Toshiyuki Fukao, Norio Miharu, Takeshi Nagamatsu, Atsushi Watanabe, Naoki Hamajima, Masaya Hirose, Ayako Sanui, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
AIM: 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. METHODS: 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...
June 6, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#16
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
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...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28561435/comparing-methods-for-fetal-fraction-determination-and-quality-control-of-nipt-samples
#17
Daphne M van Beek, Roy Straver, Marian M Weiss, Elles M J Boon, Karin Huijsdens-van Amsterdam, Cees B M Oudejans, Marcel J T Reinders, Erik A Sistermans
OBJECTIVE: To compare available analysis methods for determining fetal fraction on single read next generation sequencing data. This is important as the performance of non-invasive prenatal testing (NIPT) procedures depends on the fraction of fetal DNA. METHODS: We tested six different methods for the detection of fetal fraction in NIPT samples. The same clinically obtained data were used for all methods, allowing us to assess the effect of fetal fraction on the test result, and to investigate the use of fetal fraction for quality control...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28514925/factors-affecting-cell-free-dna-fetal-fraction-and-the-consequences-for-test-accuracy
#18
Fergus Perry Scott, Melody Menezes, Ricardo Palma-Dias, Debbie Nisbet, Philip Schluter, Fabricio da Silva Costa, Andrew Cameron McLennan
INTRODUCTION: Biological factors are known to influence the fetal fraction (FF) of cell-free DNA and may also influence the accuracy of non-invasive prenatal testing. MATERIAL AND METHODS: NIPT from 5,267 mixed risk women across three specialist clinics in Australia were analysed. Multivariable regression analysis was used to determine whether maternal characteristics, ultrasound and placental biomarkers affect FF and test accuracy. RESULTS: FF ranged from 4% - 37% (mean 11...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28500333/novel-algorithms-for-improved-sensitivity-in-non-invasive-prenatal-testing
#19
L F Johansson, E N de Boer, H A de Weerd, F van Dijk, M G Elferink, G H Schuring-Blom, R F Suijkerbuijk, R J Sinke, G J Te Meerman, R H Sijmons, M A Swertz, B Sikkema-Raddatz
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples. Therefore, we have developed three algorithms to improve sensitivity and specificity: the chi-squared-based variation reduction (χ(2)VR), the regression-based Z-score (RBZ) and the Match QC score...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-of-trisomies-13-18-and-21-a-consensus-opinion
#20
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: 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. METHODS: 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...
July 2017: Prenatal Diagnosis
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