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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/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#2
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29036772/non-invasive-prenatal-testing
#3
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/29030960/cell-free-dna-noninvasive-prenatal-screening-for-aneuploidy-versus-conventional-screening-a-systematic-review-of-economic-evaluations
#4
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
#5
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
#6
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/28978305/implementing-non-invasive-prenatal-testing-into-publicly-funded-antenatal-screening-services-for-down-syndrome-and-other-conditions-in-aotearoa-new-zealand
#7
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/28948585/-innovative-prenatal-testing-clinical-applications-and-ethical-considerations
#8
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/28943969/the-right-to-know-and-the-right-not-to-know-revisited-part-one
#9
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
#10
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/28892219/offering-non-invasive-prenatal-testing-as-part-of-routine-clinical-service-can-high-levels-of-informed-choice-be-maintained
#11
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
https://www.readbyqxmd.com/read/28887622/non-invasive-prenatal-testing-nipt-europe-s-first-multicenter-post-market-clinical-follow-up-study-validating-the-quality-in-clinical-routine
#12
Anne Flöck, Ngoc-Chi Tu, Anna Rüland, Wolfgang Holzgreve, Ulrich Gembruch, Annegret Geipel
PURPOSE: Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine. METHODS: The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome...
September 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28881392/on-the-road-to-replacing-invasive-testing-with-cell-based-nipt-five-clinical-cases-with-aneuploidies-microduplication-unbalanced-structural-rearrangement-or-mosaicism
#13
Else Marie Vestergaard, Ripudaman Singh, Palle Schelde, Lotte Hatt, Katarina Ravn, Rikke Christensen, Dorte Launholt Lildballe, Olav Bjørn Petersen, Niels Uldbjerg, Ida Vogel
OBJECTIVE: Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell-based non-invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations. METHOD: Blood samples were collected from high risk pregnancies in gestational week 12 + 1 to 12 + 5...
September 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28873375/non-invasive-prenatal-testing-for-sex-chromosome-aneuploidy-in-routine-clinical-practice
#14
Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies...
September 6, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28872650/obstetriskt-ultraljud-och-prenatal-diagnostik-i-f%C3%A3-rsta-trimestern-tidig-uppt%C3%A3-ckt-av-kromosomavvikelser-missbildningar-och-graviditetskomplikationer-ger-f%C3%A3-rdelar
#15
Peter Malcus, Peter Conner
Prenatal first trimester fetal diagnosis in Sweden today and in the future The combined first trimester test for detection of trisomy 21 has been available in Sweden the last 10 years but the uptake among pregnant women is still less than 50% and varies largely between different regions. The non-invasive prenatal test (NIPT) has been introduced and is currently recommended to be used as a secondary test only in those women who have an increased risk following the combined test. With falling costs for NIPT and a general offer of this test as a primary screening tool to all women there is concern that the first trimester ultrasound scan will be abandoned...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28870159/obstetric-professionals-perceptions-of-non-invasive-prenatal-testing-for-down-syndrome-clinical-usefulness-compared-with-existing-tests-and-ethical-implications
#16
Olivia Miu Yung Ngan, Huso Yi, Samuel Yeung Shan Wong, Daljit Sahota, Shenaz Ahmed
BACKGROUND: While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. METHODS: A cross-sectional survey among 327 obstetric professionals (237 midwives, 90 obstetricians) in Hong Kong...
September 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#17
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28685502/the-impact-of-non-invasive-prenatal-testing-on-anxiety-in-women-considered-at-high-or-low-risk-for-aneuploidy-after-combined-first-trimester-screening
#18
Zara Richmond, Ron Fleischer, Maya Chopra, Jason Pinner, Mario D'Souza, Yelena Fridgant, Jonathan Hyett
OBJECTIVE: The aim of this study was to (1) examine the psychological impact of non-invasive prenatal testing (NIPT) in women with a high-risk (≥1:300) and low-risk (≤1:301) result on combined First Trimester Screening (cFTS); and (2) to examine factors influencing anxiety and decision-making in both risk populations. METHOD: Questionnaires and structured interviews were administered to low (n = 50) and high (n =63) risk women at the time of NIPT blood draw (point A) and again at least one week after receiving their NIPT result (point B)...
July 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681452/views-of-the-obstetric-profession-on-non-invasive-prenatal-testing-in-aotearoa-new-zealand-a-national-survey
#19
Sara K Filoche, Beverley Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Aotearoa New Zealand (NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service. AIM: To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. METHODS: An anonymous online survey combining Likert scales and free text was designed to assess current practice, knowledge, ethical considerations, counselling and views toward public funding of NIPT...
July 6, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28667567/women-s-experience-with-non-invasive-prenatal-testing-and-emotional-well-being-and-satisfaction-after-test-results
#20
Rachèl V van Schendel, G C M Lieve Page-Christiaens, Lean Beulen, Caterina M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H W Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction...
June 30, 2017: Journal of Genetic Counseling
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