Results 41 to 50 of about 3,347 (156)

Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

PLoS ONE, 2016
Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to
Celine Lewis, Melissa Hill, Lyn S Chitty
doaj   +1 more source

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather
core   +1 more source

Etiske utfordringer med non-invasive prenatale tester (NIPT)

Etikk i Praksis: Nordic Journal of Applied Ethics, 2014
Analyser av cellefritt DNA fra foster i gravide kvinners blod gir nye muligheter innen fosterdiagnostikk: Testene er bedre enn eksisterende tester, de reduserer risikoen og er billigere.
Bjørn Hofmann
doaj   +1 more source

Decision-making about non-invasive prenatal testing: women’s moral reasoning in the absence of a risk of miscarriage in Germany

New Genetics and Society, 2021
This paper examines women’s experiences with decision-making about non-invasive prenatal testing (NIPT). Such tests offer knowledge about chromosomal disorders early in pregnancy, without the risk of miscarriage associated with invasive procedures such ...
Stefan Reinsch, Anika König, Christoph Rehmann-Sutter   +2 more
doaj   +1 more source

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy [PDF]

, 2022
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children.
Hui, Lisa, Molly Johnston, Lisa Hui, Savulescu, Julian, Johnston, Molly, Chanelle Warton, Taylor-Sands, Michelle, Julian Savulescu, Catherine Mills, Michelle Taylor‐Sands, Warton, Chanelle, Mark D. Pertile, Mills, Catherine, Martin B. Delatycki, Pertile, Mark D., Delatycki, Martin B.   +15 more
core   +1 more source

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Molecular Cytogenetics, 2019
Background Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic
George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis   +15 more
doaj   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

The importance of biochemical and ultrasound markers in prenatal diagnosis: current methods and development perspectives

Quality in Sport
This paper explores the role of biochemical and ultrasound markers in prenatal diagnosis, emphasizing their importance in early detection of chromosomal and structural abnormalities in the fetus.
Adam Torbicki, Piotr Gaworek, Michał Korpalski, Krzysztof Pawlikowski, Marek Żygłowicz, Dominik Augustyn, Maria Pawluczyk, Mateusz Marciniak, Alicja Trybuła   +8 more
doaj   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source