keyword
MENU ▼
Read by QxMD icon Read
search

NIPT

keyword
https://www.readbyqxmd.com/read/27924908/development-of-novel-noninvasive-prenatal-testing-protocol-for-whole-autosomal-recessive-disease-using-picodroplet-digital-pcr
#1
Mun Young Chang, Ah Reum Kim, Min Young Kim, Soyoung Kim, Jinsun Yoon, Jae Joon Han, Soyeon Ahn, Changsoo Kang, Byung Yoon Choi
We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA was calculated. Then, we made artificial DNA mixtures (positive and negative controls) to simulate mpDNA containing the fraction of cffDNA with or without mutations...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27917919/niptric-an-online-tool-for-clinical-interpretation-of-non-invasive-prenatal-testing-nipt-results
#2
Birgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, Elles M J Boon, Ron F Suijkerbuijk, Katelijne Bouman, Catia M Bilardo, Morris A Swertz, Martijn Dijkstra, Irene M van Langen, Richard J Sinke, Gerard J Te Meerman
To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#3
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#4
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27884201/nickel-pyrithione-induces-apoptosis-in-chronic-myeloid-leukemia-cells-resistant-to-imatinib-via-both-bcr-abl-dependent-and-bcr-abl-independent-mechanisms
#5
Xiaoying Lan, Chong Zhao, Xin Chen, Peiquan Zhang, Dan Zang, Jinjie Wu, Jinghong Chen, Huidan Long, Li Yang, Hongbiao Huang, Bing Z Carter, Xuejun Wang, Xianping Shi, Jinbao Liu
BACKGROUND: Acquired imatinib (IM) resistance is frequently characterized by Bcr-Abl mutations that affect IM binding and kinase inhibition in patients with chronic myelogenous leukemia (CML). Bcr-Abl-T315I mutation is the predominant mechanism of the acquired resistance to IM. Therefore, it is urgent to search for additional approaches and targeting strategies to overcome IM resistance. We recently reported that nickel pyrithione (NiPT) potently inhibits the ubiquitin proteasome system via targeting the 19S proteasome-associated deubiquitinases (UCHL5 and USP14), without effecting on the 20S proteasome...
November 25, 2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/27878832/prenatal-cfdna-screening-results-indicative-of-maternal-neoplasm-survey-of-current-practice-and-management-needs
#6
Meagan E Giles, Lauren Murphy, Nevena Krstić, Cathy Sullivan, Syed S Hashmi, Blair Stevens
OBJECTIVE: To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. METHODS: A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). RESULTS: Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that NIPT results may suggest maternal neoplasm and 77% reported they would disclose such results...
November 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#7
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NHSL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859455/women-s-choices-for-invasive-or-non-invasive-testing-influence-of-gestational-age-and-service-delivery
#8
An Chen, Henni Tenhunen, Paulus Torkki, Seppo Heinonen, Paul Lillrank, Vedran Stefanovic
OBJECTIVE: To investigate the factors influencing women's post-counseling choices between non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis in pregnancies with elevated a priori risk of fetal chromosomal abnormalities or after the initial screening. METHODS: Data were collected from test choice database at Fetomaternal Medical Center (FMC) at Helsinki University Hospital, Finland. We focused on the women with gestational age less than 15 weeks and who were offered NIPT or invasive procedure (CVS or amniocentesis) after pre-test counseling...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27830353/genetic-counseling-for-couples-seeking-noninvasive-prenatal-testing-in-japan-experiences-of-pregnant-women-and-their-partners
#9
Motoko Watanabe, Mari Matsuo, Masaki Ogawa, Toshitaka Uchiyama, Satoru Shimizu, Naoko Iwasaki, Akemi Yamauchi, Mari Urano, Hironao Numabe, Kayoko Saito
The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit)...
November 9, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27781087/report-on-noninvasive-prenatal-testing-classical-and-alternative%C3%A2-approaches
#10
Kateryna S Pantiukh, Nikolay N Chekanov, Igor V Zaigrin, Alexei M Zotov, Alexander M Mazur, Egor B Prokhortchouk
Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT). These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing...
2016: F1000Research
https://www.readbyqxmd.com/read/27779757/analysis-of-cell-free-fetal-dna-in-maternal-blood-for-detection-of-trisomy-21-18-and-13-in-a-general-pregnant-population-and-in-a-high-risk-population-a-systematic-review-and-meta-analysis
#11
Erik Iwarsson, Bo Jacobsson, Jessica Dagerhamn, Thomas Davidson, Eduardo Bernabé, Marianne Heibert Arnlind
INTRODUCTION: To review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. MATERIAL AND METHODS: Systematic Review and Meta-Analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model...
October 25, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27773204/non-invasive-prenatal-testing-nipt-is-more-sensitive-than-cvs-for-identifying-rare-trisomy-and-trisomy-mosaicism
#12
Nicola Flowers, Olivia Giouzeppos, Sara Cronin, Grace Shi, David Francis, Damien Bruno, Mark Pertile
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27770435/a-scoping-review-of-root-canal-revascularization-relevant-aspects-for-clinical-success-and-tissue-formation
#13
REVIEW
M C M Conde, L A Chisini, R Sarkis-Onofre, H S Schuch, J E Nör, F F Demarco
The aim of this scoping study was to evaluate the survival rate and nature of tissue formed inside root canals of human immature permanent teeth with necrotic pulps (NIPT) under root canal revascularization (RCR). The search was performed in SciVerse Scopus®, PubMed/MEDLINE, Web of Science®, BIREME and in the grey literature up to November 2015. The keywords were selected using MeSH terms and DECs. Two independent reviewers scrutinized the records obtained considering specific inclusion criteria. The included studies were evaluated in accordance with a modified Arksey and O' Malley's framework...
October 22, 2016: International Endodontic Journal
https://www.readbyqxmd.com/read/27762970/down-s-screening-the-right-to-informed-choice
#14
Jane Fisher
Antenatal screening for Down's syndrome, and particularly the potential NHS implementation of the more sensitive cell-free DNA screening known as NIPT (non-invasive prenatal testing), has had intense media coverage recently, prompted by the BBC2 documentary A World Without Down's Syndrome.
October 12, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27761919/genome-wide-copy-number-analysis-on-dna-from-fetal-cells-isolated-from-the-blood-of-pregnant-women
#15
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B Van denVeyver, Laird Jackson, Lotte Hatt, Palle Schelde, Niels Uldbjerg, Else Marie Vestergaard, Li Zhao, Rui Chen, Chad A Shaw, Amy M Breman, Arthur L Beaudet
OBJECTIVE: Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT. METHODS: We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome...
October 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27753043/lost-in-translation-ethical-challenges-of-implementing-a-new-diagnostic-procedure
#16
Dagmar Schmitz
Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27750376/trial-by-dutch-laboratories-for-evaluation-of-non-invasive-prenatal-testing-part-i-clinical-impact
#17
Dick Oepkes, G C Lieve Page-Christiaens, Caroline J Bax, Mireille N Bekker, Catia M Bilardo, Elles M J Boon, G Heleen Schuring-Blom, Audrey B C Coumans, Brigitte H Faas, Robert-Jan H Galjaard, Attie T Go, Lidewij Henneman, Merryn V E Macville, Eva Pajkrt, Ron F Suijkerbuijk, Karin Huijsdens-van Amsterdam, Diane Van Opstal, E J Joanne Verweij, Marjan M Weiss, Erik A Sistermans
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome...
October 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27747900/current-controversies-in-prenatal-diagnosis-2-for-those-women-screened-by-nipt-using-cell-free-dna-maternal-serum-markers-are-obsolete
#18
Yuval Yaron, Jon Hyett, Sylvie Langlois
No abstract text is available yet for this article.
October 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27741136/noninvasive-prenatal-testing-in-routine-clinical-practice-for-a-high-risk-population-experience-from-a-center
#19
Guijie Qi, Jianping Yi, Baosheng Han, Heng Liu, Wanru Guo, Chong Shi, Lirong Yin
This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27739584/trial-by-dutch-laboratories-for-evaluation-of-non-invasive-prenatal-testing-part-ii-women-s-perspectives
#20
Rachel V van Schendel, Lieve Page-Christiaens, Lean Beulen, Catia M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice...
October 14, 2016: Prenatal Diagnosis
keyword
keyword
12071
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"