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Noninvasive prenatal screening

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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/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#2
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27829872/noninvasive-prenatal-testing-for-aneuploidy-using-cell-free-dna-new-implications-for-maternal-health
#3
REVIEW
Lisa Hui
The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternal health. Specific maternal conditions that can affect the performance of noninvasive prenatal testing include obesity, active autoimmune disease and low molecular weight heparin treatment. There is also a growing appreciation of the implications of discordant noninvasive prenatal testing results for maternal health, including unexpected diagnoses of maternal chromosomal conditions, or rarely, occult cancer...
December 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#4
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#5
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27756173/quad-versus-cfdna-in-an-urban-population-in-the-second-trimester-for-detection-of-trisomy-21-a-cost-sensitivity-analysis
#6
Sarah Crimmins, Lauren Doyle, Julia Slejko, Jerome N Kopelman, Ozhan Turan
OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cfDNA) in an urban population who did not have first trimester screening as a primary screening tool for trisomy 21(T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013-2015. All QUAD screen performed between 15-21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27732785/noninvasive-prenatal-dna-testing-the-vanguard-of-genomic-medicine
#7
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
https://www.readbyqxmd.com/read/27716407/an-adaptive-detection-method-for-fetal-chromosomal-aneuploidy-using-cell-free-dna-from-447-korean-women
#8
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Minae An, Jungsu Ha, Kyusang Lee, Byung Chul Kim, Hailing Zheng, Xinqiang Zhu, Hongliang Chen, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing. METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea...
October 3, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27684833/use-of-the-glidescope-video-laryngoscope-for-intubation-during-ex-utero-intrapartum-treatment-in-a-fetus-with-a-giant-cyst-of-the-4th-branchial-cleft-a-case-report
#9
Sung Hye Byun, So Young Lee, Seong Yeon Hong, Taeha Ryu, Baek Jin Kim, Jin Yong Jung
INTRODUCTION: In fetuses who are predicted to be at risk of catastrophic airway obstruction at delivery, the ex utero intrapartum treatment (EXIT) procedure is useful for securing the fetal airway while maintaining fetal oxygenation via placental circulation. Factors, including poor posture of the fetus and physician, narrow visual field, and issues of contamination in the aseptic surgical field, make fetal intubation during the EXIT procedure difficult. Herein, we report our experience of the usefulness of the GlideScope video laryngoscope (GVL) for intubation during the EXIT procedure...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27672536/next-generation-sequencing-coping-with-rare-genetic-diseases-in-china
#10
REVIEW
David S Cram, Daixing Zhou
With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27645814/cell-free-fetal-dna-testing-for-prenatal-diagnosis
#11
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/27634052/a-systematic-review-of-prenatal-screening-for-congenital-heart-disease-by-fetal-electrocardiography
#12
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/27627594/debates-on-fetal-fraction-measurement-and-dna-based-noninvasive-prenatal-screening-time-for-standardisation
#13
T Wataganara, T-H Bui, K W Choy, T Y Leung
No abstract text is available yet for this article.
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27627592/applicability-of-first-trimester-combined-screening-for-fetal-trisomy-21-in-a-resource-limited-setting-in-mainland-china
#14
B Li, D S Sahota, T T Lao, J Xu, S Q Hu, L Zhang, Q Y Liu, Q Sun, D Tang, R M Ma
OBJECTIVE: To assess the feasibility and performance of the first-trimester combined screening test for trisomy 21 in a resource-limited setting in mainland China. DESIGN: Prospective observational cohort study. SETTING: First Affiliated Hospital of Kunming Medical University, China. POPULATION: Ten thousand four hundred and forty-two pregnant women requesting first-trimester screening. METHODS: The combined screening test was performed from May 2012 to December 2014...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27627591/performance-of-prenatal-screening-using-maternal-serum-and-ultrasound-markers-for-down-syndrome-in-chinese-women-a-systematic-review-and-meta-analysis
#15
REVIEW
S Tu, M Rosenthal, D Wang, J Huang, Y Chen
BACKGROUND: Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently available noninvasive prenatal test based on cell-free fetal DNA sequencing. OBJECTIVES: To evaluate the screening performance of PSMSUM in detecting DS in Chinese women. SEARCH STRATEGY: An exhaustive literature search of MEDLINE, Embase, the Cochrane Library, ISI Web of Science and China BioMedical Disc...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27606664/normal-newborn-with-prenatal-suspicion-of-x-chromosome-monosomy-due-to-confined-placental-mosaicism
#16
Danielius Serapinas, Daiva Bartkeviciene, Emilija Valantinaviciene, Egle Machtejeviene
The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants...
October 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27588713/survey-of-us-obstetrician-opinions-regarding-nipt-use-in-general-practice-implementation-and-barriers
#17
Justin Brewer, Lisa Demers, Thomas Musci
OBJECTIVE: To evaluate the knowledge and opinions of US obstetric providers who use noninvasive prenatal testing (NIPT) to understand current utilization and guide future best practices. METHODS: A questionnaire was designed to assess the level of knowledge and attitudes of OBGYNs toward screening options for aneuploidy, with a focus on NIPT. Initial questions evaluated obstetrician demographics, practice type, and NIPT familiarity. Subsequent questions were designed to solicit current practices regarding aneuploidy screening as well as opinions, experiences, and implications of NIPT...
September 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27537837/benefits-and-limitations-of-prenatal-screening-for-prader-willi-syndrome
#18
Merlin G Butler
This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening...
August 18, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27467454/noninvasive-prenatal-screening-for-fetal-aneuploidy-2016-update-a-position-statement-of-the-american-college-of-medical-genetics-and-genomics
#19
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson
This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27415003/performance-evaluation-of-nipt-in-detection-of-chromosomal-copy-number-variants-using-low-coverage-whole-genome-sequencing-of-plasma-dna
#20
Hongtai Liu, Ya Gao, Zhiyang Hu, Linhua Lin, Xuyang Yin, Jun Wang, Dayang Chen, Fang Chen, Hui Jiang, Jinghui Ren, Wei Wang
OBJECTIVES: The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method. METHOD: A total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 CNVs samples and 886 normal samples from September 1, 2011 to May 31, 2013, were enrolled in this study. The samples were randomly rearranged and blindly sequenced by low-coverage (about 7M reads) whole-genome sequencing of plasma DNA...
2016: PloS One
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