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https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#1
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/27889980/-the-importance-of-free-nucleic-acids-in-the-non-invasive-diagnostics
#2
Bálint Nagy, Zoltán Csanádi, Róbert Póka
There is a great interest to determine the physiological role of "free" nucleic acids, and to use them in the clinical diagnostics. These could be DNA, mRNA, microRNA and long non-coding RNA molecules, they are in the body fluids, like serum, tear, saliva, etc. Their exact role in the normal and pathological physiological processes is still in the focus of the research, while their use in the diagnostics is becoming more and more important. The use of "free" DNA in the non-invasive prenatal diagnosis is the first clinical application of the new generation sequencers, these methods are able to reach 99...
November 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#3
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
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/27862072/views-of-american-ob-gyns-on-the-ethics-of-prenatal-whole-genome-sequencing
#5
Michelle J Bayefsky, Amina White, Paul Wakim, Sara Chandros Hull, David Wasserman, Stephanie Chen, Benjamin E Berkman
OBJECTIVE: Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use. METHODS: A national survey was administered to 2,500 members of ACOG...
November 16, 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
#6
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
#7
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/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#8
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27836589/a-novel-non-invasive-detection-method-for-the-fgfr3-gene-mutation-in-maternal-plasma-for-a-fetal-achondroplasia-diagnosis-based-on-signal-amplification-by-hemin-mofs-ptnps
#9
Jun Chen, Chao Yu, Yilin Zhao, Yazhen Niu, Lei Zhang, Yujie Yu, Jing Wu, Junlin He
The small amount of cell-free fetal DNA (cffDNA) can be a useful biomarker for early non-invasive prenatal diagnosis (NIPD) of achondroplasia. In this study, a novel non-invasive electrochemical DNA sensor for ultrasensitive detecting FGFR3 mutation gene, a pathogenic gene of achondroplasia, based on biocatalytic signal materials and the biotin-streptavidin system are presented. Notably encapsulation of hemin in metal-organic frameworks-based materials (hemin-MOFs) and platinum nanoparticles (PtNPs) were used to prepare hemin-MOFs/PtNPs composites via a one-beaker-one-step reduction...
November 1, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27812255/fetal-rhd-genotyping-from-circulating-cell-free-fetal-dna-in-plasma-of-rh-negative-pregnant-women-in-iran
#10
Mohammad Hossein Ahmadi, Sedigheh Hantuoshzadeh, Mohammad Ali Okhovat, Nahid Nasiri, Azita Azarkeivan, Naser Amirizadeh
The prenatal determination of the fetal Rh genotype could lead to a substantial reduction in the use of anti-D immunoglobulin and prevention of unnecessary exposure of pregnant women carrying RhD negative fetus. The aim of this study was fetal RHD genotyping through the analysis of cffDNA in plasma samples of RhD negative pregnant women by real-time PCR technique. In this experiment, 30 plasma samples were collected from RhD negative pregnant women. DNA were extracted and real-time PCR reactions were done by specific primers for RHD, SRY and beta-globin (GLO) genes...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27809950/effects-of-prenatal-bisphenol-a-exposure-and-postnatal-overfeeding-on-cardiovascular-function-in-female-sheep
#11
S M J MohanKumar, T D Rajendran, A K Vyas, V Hoang, N Asirvatham-Jeyaraj, A Veiga-Lopez, N B Olivier, V Padmanabhan, P S MohanKumar
Bisphenol-A (BPA) is a widely used endocrine-disrupting chemical. Prenatal exposure to BPA is known to affect birth weight, but its impact on the cardiovascular system has not been studied in detail. In this study, we investigated the effects of prenatal BPA treatment and its interaction with postnatal overfeeding on the cardiovascular system. Pregnant sheep were given daily subcutaneous injections of corn oil (control) or BPA (0.5 mg/kg/day in corn oil) from day 30 to day 90 of gestation. A subset of female offspring of these dams were overfed to increase body weight to ~30% over that of normal fed controls...
November 4, 2016: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/27809626/prenatal-diagnosis-of-congenital-upper-limb-differences-a-current-concept-review
#12
Hamza M Alrabai, Alex Farr, Dieter Bettelheim, Myriam Weber, Sebastian Farr
Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder. The diagnostic assessment is a multidisciplinary task that should involve early prenatal consultations with specialists involved in case management and treatment planning. Obstetricians, geneticists, radiologists, psychologists, and dedicated surgeons are needed to provide good parental education, prenatal and postnatal care, and successful outcomes...
November 3, 2016: Journal of Maternal-fetal & Neonatal Medicine
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
#13
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
#14
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/27773009/non-invasive-prenatal-testing-what-s-next
#15
Rossa W K Chiu
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27772964/non-invasive-prenatal-testing-what-s-next
#16
Rossa W K Chiu
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27762970/down-s-screening-the-right-to-informed-choice
#17
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
#18
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/27760457/factors-affecting-parental-decisions-to-terminate-pregnancy-in-the-presence-of-chromosome-abnormalities-a-japanese-multicenter-study
#19
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
October 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27753044/academia-meets-industry
#20
Christian Schäfer, Tobias Paprotka, Ellen Heitzer, Mark Eccleston, Johannes Noe, Stefan Holdenrieder, Frank Diehl, Alain Thierry
Researchers working in industrial laboratories as well as in academic laboratories discussed topics related to the use of extracellular nucleic acids in different fields. These included areas like non-invasive prenatal diagnosis, the application of different methods for the analysis and characterization of patients with benign and malignant diseases and technical aspects associated with extracellular nucleic acids. In addition, the possibilities and chances for a cooperation of researchers working in different worlds, i...
2016: Advances in Experimental Medicine and Biology
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