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prenatal screening aneuploidy

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https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#1
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/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#2
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#3
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28574808/fetal-cardiac-us-techniques-and-normal-anatomy-correlated-with-adult-ct-and-mr-imaging
#4
Neel Patel, Evan Narasimhan, Anne Kennedy
Congenital heart disease (CHD) is an important cause of childhood mortality. Despite the widespread use of ultrasonography (US) as a screening tool, the prenatal detection rate is suboptimal. Improvement of the initial screening examination, which is performed in low-risk populations and often interpreted by community radiologists, targets a point in the screening process that is likely to have the largest population effect. If the goal of community-based screenings is to detect cases that may be abnormal and refer those to specialized centers for complete assessment, it is logical to use a checklist to confirm normal anatomy...
June 2, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28573775/isuog-updated-consensus-statement-on-the-impact-of-cfdna-aneuploidy-testing-on-screening-policies-and-prenatal-ultrasound-practice
#5
L J Salomon, Z Alfirevic, F Audibert, K O Kagan, D Paladini, G Yeo, N Raine-Fenning
No abstract text is available yet for this article.
June 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#6
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/28553771/the-first-trimester-combined-test-for-aneuploidies-a-single-center-experience
#7
Alina Veduta, Ana Maria Vayna, Simona Duta, Anca Panaitescu, Florin Popescu, Maria Bari, Gheorghe Peltecu, Florina Nedelea
PURPOSE: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center. METHODS: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown - rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A and free β-hCG in maternal serum...
May 28, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#8
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#9
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28499534/prenatal-diagnosis-screening-and-diagnostic-tools
#10
REVIEW
Laura M Carlson, Neeta L Vora
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are available to patients based on their risk profile and gestational age. Screening options include traditional serum analyte screening, such as first-trimester screening or quadruple screening, and more recently, cell-free DNA. Diagnostic testing choices include chorionic villus sampling and amniocentesis. The number of screening and diagnostic modalities complicates prenatal counseling for physicians and can be difficult for patients to grasp...
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28492524/sociodemographic-and-attitudinal-predictors-of-simultaneous-and-redundant-multiple-marker-and-cell-free-dna-screening-among-women-aged-%C3%A2-35-years
#11
A K Lewkowitz, A J Kaimal, K Thao, A O'Leary, O Nseyo, M Kuppermann
OBJECTIVE: To identify characteristics associated with undergoing cell-free DNA (cfDNA) and multiple marker screening (MMS) simultaneously or redundantly (after receiving negative results from the first screening test) among women aged ⩾35 years. STUDY DESIGN: Participants presenting for prenatal testing completed a questionnaire that included measures of pregnancy worry and attitudes toward potential testing outcomes; data on prenatal test use was obtained via medical record review...
May 11, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28456373/book-genetics-for-obstetricians-and-gynaecologists-chapter-genetic-markers-on-ultrasound-scan
#12
REVIEW
Janani Sivanathan, Basky Thilaganathan
Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced...
March 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28449648/development-and-evaluation-of-training-resources-to-prepare-health-professionals-for-counselling-pregnant-women-about-non-invasive-prenatal-testing-for-down-syndrome-a-mixed-methods-study
#13
Kerry Oxenford, Rebecca Daley, Celine Lewis, Melissa Hill, Lyn S Chitty
BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. METHODS: Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service...
April 27, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#14
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12 114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#15
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#16
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van IJcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28382695/discordant-non-invasive-prenatal-testing-nipt-a-systematic-review
#17
REVIEW
Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, Finn Stener Jørgensen
With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative...
April 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#18
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#19
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#20
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
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