Results 61 to 70 of about 4,684 (217)

ISUOG Consensus Statement on the Impact of Non-invasive Prenatal Testing (NIPT) on Prenatal Ultrasound Practice [PDF]

Zeitschrift für Geburtshilfe und Neonatologie, 2014
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Salomon, L. J, Alfirevic, Z, Audibert, F, Kagan, K. O, PALADINI, DARIO, Yeo, G, Raine Fenning, N.   +6 more
openaire   +5 more sources

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Decision-making process about prenatal genetic screening: how deeply do moms-to-be want to know from Non-Invasive Prenatal Testing?

BMC Pregnancy and Childbirth, 2023
Background Prenatal information may be obtained through invasive diagnostic procedures and non-invasive screening procedures. Several psychological factors are involved in the decision to undergo a non-invasive prenatal testing (NIPT) but little is known
Serena Oliveri, Giulia Ongaro, Ilaria Cutica, Giulia Menicucci, Debora Belperio, Francesca Spinella, Gabriella Pravettoni   +6 more
doaj   +1 more source

Obstetric professionals’ perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications [PDF]

, 2017
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 ...
A Pilnick, A Tabor, American College of Obstetricians and Gynecologists, C Lewis, Daljit Sahota, DS Sahota, FR Grati, GE Palomaki, H Gottfredsdóttir, H Yi, H Yi, Huso Yi, J Brewer, JL Simpson, JYC Lau, KO Kou, M Hill, M Hill, M Vanstone, MA Minear, ME Norton, MM Gil, N Dugo, Olivia Miu Yung Ngan, P Benn, P Benn, P Swaney, R Akolekar, RM Farrell, RM Farrell, RW Chiu, S Chandrasekharan, Samuel Yeung Shan Wong, Shenaz Ahmed, T Hesketh, T Takoudes, TK Lo, TY Leung, V Serra-Sastre, X Zeng, Y Wang, YM Chan, YM Lo   +42 more
core   +3 more sources

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

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

“The Way We Do Things is Unsustainable”—Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This research explored a cross‐country comparison of qualitative and quantitative data assessing the experiences of prenatal genomic healthcare professionals (HCP) in Australia and the Netherlands. Method The interview script included open‐ended questions on work experience, validated scales on compassion fatigue and stress, and ...
Maayke de Koning, Sarah Long, Marit de Vries, Holly Evans, Lauren Kelada, Monique Haak, Gemma Fernihough, Gijs Santen, Manon Suerink, Tony Roscioli   +9 more
wiley   +1 more source

Preferences of Pregnant Women and Healthcare Professionals on First‐Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The first‐trimester anomaly scan (FTAS) allows early detection of fetal structural anomalies. Decisions on timing and scan protocol influence its performance. Understanding how pregnant women and healthcare professionals value these aspects is essential for shaping screening programs.
Eline E. R. Lust, Kim Bronsgeest, Ian Smith, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Mireille N. Bekker, Monique C. Haak   +9 more
wiley   +1 more source

New molecular tools for prenatal diagnosis [PDF]

, 2016
Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified.
Sahlin, Ellika
core   +1 more source

Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis

Diagnosis, 2015
Abstract With the discovery of existing circulating cell-free fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future.
Ioanna Kotsopoulou, Panagiota Tsoplou, Konstantinos Mavrommatis, Christos Kroupis   +3 more
openaire   +2 more sources