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https://www.readbyqxmd.com/read/29449634/self-perceptions-from-people-with-down-syndrome-in-japan
#1
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
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#2
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29423788/evaluation-of-extraction-methods-for-methylated-cell-free-fetal-dna-from-maternal-plasma
#3
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
PURPOSE: Recently, fetal placenta-specific epigenetic regions (FSERs) have been identified for quantification of cell-free fetal DNA (cff-DNA) for non-invasive prenatal testing (NIPT). The aim of this study was to evaluate the efficiencies of a column-based kit and magnetic bead-based kit for quantification of methylated FSERs from maternal plasma. METHODS: Maternal plasma was extracted from normal pregnant women within the gestational age of 10~13 weeks (n = 24)...
February 8, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29419861/-data-analysis-of-non-invasive-prenatal-testing-based-on-special-loci-in-cell-free-fetal-dna
#4
Liming Xuan, Lingyin Kong, Yingying Xia, Yan Mao, Jingjing Shen, Yijun Zhu, Yongfeng Xue, Danfeng Sun, Huimin Liu, Bo Liang
OBJECTIVE To analyze the data of non-invasive prenatal testing based on specific loci of circulating cell-free fetal DNA (cffDNA). METHODS Selected loci of target chromosomes were analyzed by sequence capture and sequencing. Meanwhile, 600 loci were selected from other chromosomes for determining the concentration of cffDNA. RESULTS A total of 768 specific loci were captured on chromosomes 21 and 18, and used to determine whether the two were abnormal. When the minimum concentration of detected cffDNA was set at 3% and the threshold of Z score was set to [-6,6], the specificity of the analysis was 99...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#5
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29415334/high-throughput-non-invasive-prenatal-testing-for-fetal-rhd-genotype-to-guide-antenatal-prophylaxis-with-anti-d-immunoglobulin-a-cost-effectiveness-analysis
#6
Pedro Saramago, Huiqin Yang, Alexis Llewellyn, Stephen Palmer, Mark Simmonds, Susan Griffin
OBJECTIVE: To evaluate the cost-effectiveness of high-throughput, non-invasive prenatal testing (HT-NIPT) for fetal RhD genotype to guide antenatal prophylaxis with anti-D immunoglobulin compared to routine antenatal anti-D immunoglobulin prophylaxis (RAADP). DESIGN: Cost-effectiveness decision-analytic modelling. SETTING: Primary care. PARTICIPANTS: A simulated population of 100,000 RhD negative women not known to be sensitised to the RhD antigen...
February 7, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29410544/prenatal-microarray-analysis-in-right-aortic-arch-a-retrospective-cohort-study-and-review-of-the-literature
#7
Idit Maya, Amihood Singer, Hagit N Baris, Yael Goldberg, Adel Shalata, Morad Khayat, Shay Ben-Shachar, Lena Sagi-Dain
OBJECTIVE: To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA). METHODS: Data from all CMA analyses performed owing to isolated RAA reported to the Israeli Ministry of Health between January 2013 and September 2016 were evaluated retrospectively. Risk for abnormal CMA findings was compared with two control populations, based on both previously described 9272 pregnancies with normal ultrasound, and on a local cohort of 5541 pregnancies undergoing CMA testing owing to maternal request...
February 6, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#8
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening. METHOD: Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29380944/optimal-non-invasive-diagnosis-of-fetal-achondroplasia-combining-ultrasonography-and-circulating-cell-free-fetal-dna-analysis
#9
Alexandre J Vivanti, Jean-Marc Costa, Audrey Rosefort, Pascale Kleinfinger, Laurence Lohmann, Anne-Gael Cordier, Alexandra Benachi
OBJECTIVE: To assess the performance of non-invasive prenatal testing of achondroplasia using high-resolution melting (HRM) analysis. To propose an optimal diagnosis strategy combining ultrasound scan and cell-free fetal DNA (cffDNA) analysis. METHODS: Prospective multicenter study. CffDNA was extracted from maternal blood from women at risk for fetal achondroplasia (paternal achondroplasia, previous affected child or suspected rhizomelic shortening). The presence of one of the two main FGFR3 mutations was determined by HRM combined with confirmation by SNaPshot minisequencing...
January 30, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29380343/prenatal-diagnosis-and-socioeconomic-status-in-the-non-invasive-prenatal-testing-era-a-population-based-study
#10
Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday
BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AIM: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. METHODS: Retrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria...
January 30, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#11
EDITORIAL
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#12
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29338128/clinical-experience-of-laboratory-follow-up-with-non-invasive-prenatal-testing-using-cell-free-dna-and-positive-microdeletion-results-in-349-cases
#13
S Schwartz, M Kohan, R Pasion, P R Papenhausen, L D Platt
OBJECTIVE: Screening via non-invasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. METHODS: Patients that were screen positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q, who underwent diagnostic studies by either CVS or amniocentesis were evaluated...
January 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#14
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#15
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#16
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29249015/cost-effectiveness-of-cell-free-dna-in-maternal-blood-testing-for-prenatal-detection-of-trisomy-21-18-and-13-a-systematic-review
#17
Lidia García-Pérez, Renata Linertová, Margarita Álvarez-de-la-Rosa, Juan Carlos Bayón, Iñaki Imaz-Iglesia, Jorge Ferrer-Rodríguez, Pedro Serrano-Aguilar
The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies...
December 16, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/29247464/no-call-nipt-gives-important-information
#18
Niels Uldbjerg
Non-invasive prenatal testing (NIPT) based on cell free fetal DNA fragments in maternal serum samples (cffDNA) is a well-established method for Downs-screening in early pregnancy. The sensitivity is above 99%. However, when used for screening of younger women without risk factors, the positive predictive value is below 50%, i.e. a suspicion of Down's syndrome based on NIPT must be confirmed by an invasive diagnostic test such as via chorion villus sampling (CVS). This article is protected by copyright. All rights reserved...
December 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29226487/prenatal-diagnostic-testing-and-atypical-chromosome-abnormalities-following-combined-first-trimester-screening-implications-for-contingent-models-of-non-invasive-prenatal-testing
#19
Anthea Lindquist, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To perform a population-based analysis of a combined first trimester screening (CFTS) cohort for (i) changes in uptake of invasive prenatal diagnosis by CFTS risk, and (ii) prevalence and methods of ascertainment of atypical chromosome abnormalities. METHODS: Retrospective cohort study of state-wide prenatal datasets from Victoria, Australia. A three-step approach was undertaken: i) record-linkage between serum screening and diagnostic results; ii) comparison of rates of diagnostic testing by CFTS risk categories in a 2014-15 CFTS cohort with a historical cohort from 2002-04; (iii) detailed analysis of atypical abnormalities from 2014-15 by CFTS risk, individual serum analyte level and indications for diagnostic testing...
December 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#20
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
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