Results 151 to 160 of about 195,583 (261)

Genome‐wide methylation profiling of maternal cell‐free DNA using methylated DNA sequencing (MeD‐seq) indicates a placental and immune‐cell signature

European Journal of Clinical Investigation, Volume 55, Issue 3, March 2025.
Studies investigating the maternal cell‐free DNA (cfDNA) methylome are scarce. We identified 436 autosomal differentially methylated regions (DMRs) between cfDNA from pregnant and nonpregnant women, using methylated DNA sequencing (MeD‐seq). Y‐chromosomal methylation could determine fetal sex, we show hypermethylation of the placental‐marker RASSF1 ...
Marjolein M. van Vliet, Ruben G. Boers, Joachim B. Boers, Olivier J. M. Schäffers, Lotte E. van der Meeren, Régine P. M. Steegers‐Theunissen, Joost Gribnau, Sam Schoenmakers   +7 more
wiley   +1 more source

Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Many studies have investigated the neuropsychological profile of individuals with sex chromosome trisomies (SCTs) and have identified some fragilities in language development within a wide individual variability. However, only a few studies have focused on children in the second year of life (12–24 months), a crucial stage for neurodevelopment.
Laura Zampini, Alessandra Lorini, Paola Zanchi, Nicoletta Scionti, Gaia Silibello, Francesca Dall'Ara, Paola Francesca Ajmone, Federico Monti, Maria Antonella Costantino, Paola Giovanna Vizziello   +9 more
wiley   +1 more source

A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy [PDF]

, 2016
OBJECTIVE: To explore women's attitudes towards non-invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT.
Chitty, LS, Hill, M, Lewis, C
core   +1 more source

Non-Invasive Prenatal Testing: Facilitating Autonomy or Complicating Decision making? [PDF]

, 2016
The context of this presentation is the UK RAPID evaluation study on non-invasive prenatal testing (NIPT) for Downs' syndrome and the future public funding of such a regime.
Wale, Jeffrey
core  

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [PDF]

, 2016
published_or_final_versio
Chan, KY, Kan, SYA, Kou, KOT, Kwok, SL, Leung, KY, Poon, CF, Tang, MHY   +6 more
core   +1 more source

Twin Estimates of the Effects of Prenatal Environment, Child Biology, and Parental Bias on Sex Differences in Early Age Mortality [PDF]

arXiv, 2020
Sex differences in early age mortality have been explained in prior literature by differences in biological make-up and gender discrimination in the allocation of household resources. Studies estimating the effects of these factors have generally assumed that offspring sex ratio is random, which is implausible in view of recent evidence that the sex of
arxiv  

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications [PDF]

, 2016
ArticleLe test prénatal non-invasif (TPNI) reposant sur l’utilisation de l’ADN fœtal libre (cffDNA) dans le sang maternel a été introduit dans la pratique clinique dans de nombreux pays, incluant le Canada.
Dupras, Charles, Haidar, Hazar, Ravitsky, Vardit   +2 more
core   +2 more sources

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.

PLoS ONE, 2019
OBJECTIVES:Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide.
Wei Zhang, Tima Mohammadi, Julie Sou, Aslam H Anis   +3 more
doaj   +1 more source

Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

PLoS ONE, 2014
BackgroundNon-invasive prenatal testing (NIPT) for Down's syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine
Stephen Morris, Saffron Karlsen, Nancy Chung, Melissa Hill, Lyn S Chitty   +4 more
doaj   +1 more source

Non invasive prenatal testing for single gene disorders:Exploring the ethics [PDF]

, 2012
Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy.
A de Jong, A Hall, A Sommerville, A van den Heuvel, AJ Newson, AN Barrett, B Heyman, B Modell, BA Bernhardt, C Baillie, C Lewis, C Lewis, C Meaney, Celine Lewis, E Dormandy, E Garcia, F Mujezinovic, FL Raymond, FM Lun, FM Lun, H Skirton, HC Fan, J Garcia, J Hodgson, J Narveson, JC Sapp, KM Finning, KT Maliszewski, L Henneman, L Kooij, L Locock, LC Sayres, LS Chitty, Lyn S Chitty, M Berkenstadt, M Hill, M Hill, M Hill, M McAllister, M Nicol, M van den Berg, Melissa Hill, N Press, NB Tsui, O O’Neil, PA Benn, R Chadwick, R Favre, R Rapp, S Galbiati, S Sherwin, SA Metcalfe, SE Kelly, SE Kelly, T Beauchamp, T Lau, TM Marteau, V Bot-Robin, V Seavilleklein, V Tsianakas, V Tsianakas, Y Lo, YM Lo, YM Lo, Z Deans, Zuzana Deans   +65 more
core   +1 more source