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https://www.readbyqxmd.com/read/29040895/economic-analysis-of-prenatal-screening-strategies-for-down-syndrome-in-singleton-pregnancies-in-turkey
#1
Zeynep Güldem Ökem, Gökçen Örgül, Berna Tari Kasnakoglu, Mehmet Çakar, M Sinan Beksaç
OBJECTIVES: To examine the costs and outcomes of different screening strategies for Down Syndrome (DS) in singleton pregnancies. STUDY DESIGN: A decision-analytic model was developed to compare the costs and the outcomes of different prenatal screening strategies. Five strategies were compared for women under 35-year of age: 1A) triple test (TT), 2A); combined test (CT), 3A) Non-invasive Prenatal Screening Test by using cell free fetal DNA (NIPT), 4A) and 5A) NIPT as a second-step screening for high-risk patients detected by either TT, or CT respectively...
October 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29036772/non-invasive-prenatal-testing
#2
James Harraway
BACKGROUND: Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand. OBJECTIVE: This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests...
October 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29033309/ethical-considerations-in-prenatal-testing-genomic-testing-and-medical-uncertainty
#3
REVIEW
Anastasia Richardson, Kelly E Ormond
Prenatal diagnostic testing has recently progressed from karyotype to routinely available chromosomal microarray, and the potential for fetal whole exome sequencing, both through invasive diagnostic testing and, in some cases, non-invasive prenatal testing. These tests bring beneficence through providing a higher diagnostic yield, often with lower risks of miscarriage than previously available testing, but also raise the question of harms related to an increase in uncertain and unknown results. Some parents-to-be report a desire to learn as much information as possible prenatally, and there may be beneficence in providing them with this information...
October 12, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#4
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29031022/fetal-analysis-with-invasive-method-fa-i-and-fetal-analysis-with-non-invasive-method-fa-ni-replacing-current-deceptively-imprecise-clinical-nomenclature
#5
Frank A Chervenak, Laurence B McCullough, Joachim Dudenhausen
There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FA-NI) using various techniques...
October 14, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29030960/cell-free-dna-noninvasive-prenatal-screening-for-aneuploidy-versus-conventional-screening-a-systematic-review-of-economic-evaluations
#6
REVIEW
L Nshimyumukiza, S Menon, H Hina, F Rousseau, D Reinharz
Although non-invasive prenatal testing (NIPT) for aneuploidies using cell free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between 1st January 2009 and 1st January 2016 where NIPT was compared to the current screening practices consisting of biochemical markers with or without nuchal translucency (NT) and/or maternal age). We included 16 studies and we found that, at current level of NIPT prices, contingent NIPT provide the best value for money, especially for publicly funded screening programs...
October 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29027730/psychological-distress-in-post-partum-women-after-non-invasive-prenatal-testing-nipt-in-japan
#7
Eri Takeda, Nobuhiro Suzumori, Takeshi Ebara, Junko Yotsumoto, Kyoko Kumagai, Kumiko Oseto, Hironao Numabe, Mayumi Sugiura-Ogasawara
AIM: The purpose of this study was to clarify the characteristics of psychological mental distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan. METHODS: Psychological mental distress was assessed using the Kessler Psychological Distress Scale (K6). We compared patients with (i) low pre-NIPT K6 and low post-partum K6 scores (control group), and (ii) low pre-NIPT K6 and a high post-partum K6 scores (case group). RESULTS: Among the 697 women who underwent NIPT, 29 (4...
October 13, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29024868/introduction-of-non-invasive-prenatal-testing-as-a-first-tier-aneuploidy-screening-test-a-survey-among-dutch-midwives-about-their-role-as-counsellors
#8
Linda Martin, Janneke T Gitsels-van der Wal, Marjon A de Boer, Meredith Vanstone, Lidewij Henneman
In 2014, non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 was added to the Dutch prenatal screening program as part of the TRIDENT study. Most (85%) pregnant Dutch women are counselled for prenatal aneuploidy screening by primary care midwives. This will remain when NIPT is implemented as a first-tier screening test. We therefore investigated midwife counsellors': 1) Knowledge about NIPT; 2) Attitudes towards NIPT as first-tier screening test; and 3) Experiences with informing clients about NIPT...
September 24, 2017: Midwifery
https://www.readbyqxmd.com/read/29023902/an-incidental-finding-of-maternal-multiple-myeloma-by-non-invasive-prenatal-testing
#9
Marion Imbert-Bouteille, Jean Chiesa, Jean-Baptiste Gaillard, Véronique Dorvaux, Lucille Altounian, Vincent Gatinois, Eve Mousty, Sanae Finge, Pascal Bourquard, Joris Robert Vermeesch, Eric Legius, Peter Vandenberghe
No abstract text is available yet for this article.
October 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28980104/experiences-of-a-high-risk-population-with-prenatal-hemoglobinopathy-carrier-screening-in-a-primary-care-setting-a-qualitative-study
#10
Kim C A Holtkamp, Phillis Lakeman, Hind Hader, Suze M J P Jans, Maria Hoenderdos, Henna A M Playfair, Martina C Cornel, Marjolein Peters, Lidewij Henneman
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive an offer of HbP carrier screening by their midwife. Semi-structured interviews (n = 26) were conducted with pregnant women at risk of being a HbP carrier, and whom were offered screening at their booking appointment in one of two midwifery practices in Amsterdam...
October 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28978305/implementing-non-invasive-prenatal-testing-into-publicly-funded-antenatal-screening-services-for-down-syndrome-and-other-conditions-in-aotearoa-new-zealand
#11
Sara Filoche, Fiona Cram, Bev Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. MAIN ISSUE: The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country...
October 4, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28976907/prenatal-diagnosis-of-clubfoot-a-review-of-current-available-methodology
#12
REVIEW
Cesare Faldini, Domenico Fenga, Ilaria Sanzarello, Matteo Nanni, Francesco Traina, Michele Attilio A Rosa
BACKGROUND: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot. METHODS: The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase. RESULTS: Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28956228/clinical-utility-of-expanded-carrier-screening-reproductive-behaviors-of-at-risk-couples
#13
Caroline E Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey...
September 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28950403/challenges-in-non-invasive-prenatal-screening-for-sub-chromosomal-copy-number-variations-using-cell-free-dna
#14
REVIEW
Henna V Advani, Angela N Barrett, Mark I Evans, Mahesh Choolani
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values...
September 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28948585/-innovative-prenatal-testing-clinical-applications-and-ethical-considerations
#15
Mei-Chih Huang, Shio-Jean Lin, Chih-Ling Chen, Tzu-Jung Huang
The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy...
October 2017: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/28945787/rapid-colorimetric-detection-of-zika-virus-from-serum-and-urine-specimens-by-reverse-transcription-loop-mediated-isothermal-amplification-rt-lamp
#16
Amanda E Calvert, Brad J Biggerstaff, Nathan A Tanner, Molly Lauterbach, Robert S Lanciotti
Zika virus (ZIKV) has emerged as a major global public health concern in the last two years due to its link as a causative agent of human birth defects. Its rapid expansion into the Western Hemisphere as well as the ability to be transmitted from mother to fetus, through sexual transmission and possibly through blood transfusions has increased the need for a rapid and expansive public health response to this unprecedented epidemic. A non-invasive and rapid ZIKV diagnostic screening assay that can be performed in a clinical setting throughout pregnancy is vital for prenatal care of women living in areas of the world where exposure to the virus is possible...
2017: PloS One
https://www.readbyqxmd.com/read/28943969/the-right-to-know-and-the-right-not-to-know-revisited-part-one
#17
Roger Brownsword, Jeff Wale
Prompted by developments in human genetics, a recurrent bioethical question concerns a person's 'right to know' and 'right not to know' about genetic information held that is intrinsically related to or linked to them. In this paper, we will revisit the claimed rights in relation to two particular test cases. One concerns the rights of the 500,000 participants in UK Biobank (UKB) whose biosamples, already having been genotyped, will now be exome sequenced, and the other concerns the rights of pregnant women (and their children) who undergo non-invasive prenatal testing (NIPT)-a simple blood test that can reveal genetic information about both a foetus and its mother...
2017: Asian Bioeth Rev
https://www.readbyqxmd.com/read/28927451/implementing-non-invasive-prenatal-testing-for-aneuploidy-in-a-national-healthcare-system-global-challenges-and-national-solutions
#18
Rachèl V van Schendel, Carla G van El, Eva Pajkrt, Lidewij Henneman, Martina C Cornel
BACKGROUND: Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of establishing a responsible implementation of NIPT for aneuploidy in prenatal healthcare, by looking at the Netherlands. METHODS: A mixed methods approach involving 13 stakeholder interviews, document analysis and (participatory) observations of the Dutch NIPT Consortium meetings were used...
September 19, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28901936/advances-in-paediatric-urology
#19
REVIEW
David A Diamond, Ivy H Y Chan, Andrew J A Holland, Michael P Kurtz, Caleb Nelson, Carlos R Estrada, Stuart Bauer, Paul K H Tam
Paediatric urological surgery is often required for managing congenital and acquired disorders of the genitourinary system. In this Series paper, we highlight advances in the surgical management of six paediatric urological disorders. The management of vesicoureteral reflux is evolving, with advocacy ranging from a less interventional assessment and antimicrobial prophylaxis to surgery including endoscopic injection of a bulking agent and minimally invasive ureteric reimplantation. Evidence supports early orchidopexy to improve fertility and reduce malignancy in boys with undescended testes...
September 9, 2017: Lancet
https://www.readbyqxmd.com/read/28892219/offering-non-invasive-prenatal-testing-as-part-of-routine-clinical-service-can-high-levels-of-informed-choice-be-maintained
#20
Celine Lewis, Melissa Hill, Lyn S Chitty
OBJECTIVES: To assess rates of informed choice among women offered NIPT for aneuploidy as part of routine clinical care. METHODS: A cross-sectional survey was conducted across six antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing or no further testing. Pre-test counselling was delivered as part of routine care by the local maternity team. Women were given a questionnaire containing a measure of informed choice immediately after pre-test counselling...
September 11, 2017: Prenatal Diagnosis
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