Results 31 to 40 of about 15,755 (254)

Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications

Canadian Journal of Bioethics, 2022
Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma.
Hazar Haidar, Renata Iskander
doaj   +1 more source

Non-invasive prenatal paternity testing using mini-STR-based next-generation sequencing: a pilot study

Journal of Laboratory Medicine, 2022
To assess the efficacy of a mini-STR-based next-generation sequencing (NGS) method for non-invasive prenatal paternity testing (NIPPT).
Song Wenqian, Xiao Nan, Zhou Shihang, Yu Weijian, Wang Ni, Shao Linnan, Liang Xiaohua   +6 more
doaj   +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

Prenatal testing - diagnostic possibilities in the 21st century with special emphasis on the diagnosis of genetic defects and heart defects

Journal of Education, Health and Sport, 2023
Introduction: Prenatal diagnosis is a branch of medicine that deals with the detection of possible genetic and developmental abnormalities at the fetal life stage.
Grzegorz Tarsa, Rami Ben Rhaiem, Katarzyna Sudelska, Zuzanna Sawińska, Przemysław Kępka, Aleksandra Łokczewska-Bojar, Daria Kuziemkowska, Jan Kuźma, Magdalena Skotalczyk, Anna Łącka-Majcher   +9 more
doaj   +1 more source

Zinc Exposure Causes Disulfidptosis to Induce Miscarriage by Up‐Regulating GATA1/METTL1/SLC7A11 Axis

Advanced Science, EarlyView.
Zn exposure up‐regulates GATA1, promoting GATA1‐mediated METTL1 and SLC7A11 transcription. It also enhances METTL1‐mediated m7G modification on SLC7A11 mRNA, increasing SLC7A11 mRNA stability. Ultimately, Zn exposure up‐regulates SLC7A11 at both transcriptional and post‐transcriptional levels, causing disulfidptosis. Knockdown of murine Slc7a11, Gata1,
Wenxin Huang, Yi Sun, Yanxin Wang, Haijun Yan, Xiaoping Yue, Weidong Wu, Xueyu Chen, Jinfang Zhang, Yanbing Lin, Qiong Lei, Nan Ji, Shuaishuai Xing, Liqin Zeng, Qingzheng Kang, Depeng Zhao, Geng Guo, Huidong Zhang   +16 more
wiley   +1 more source

Recent trends in prenatal genetic screening and testing [version 1; peer review: 2 approved]

F1000Research, 2019
Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage.
Ondrej Pös, Jaroslav Budiš, Tomáš Szemes   +2 more
doaj   +1 more source

Non-invasive prenatal testing: ethical issues explored [PDF]

European Journal of Human Genetics, 2009
This paper explores the ethical implications of introducing non-invasive prenatal diagnostic tests (NIPD tests) in prenatal screening for foetal abnormalities. NIPD tests are easy and safe and can be performed early in pregnancy. Precisely because of these features, it is feared that informed consent may become more difficult, that both testing and ...
de Jong, Antina, Dondorp, Wybo J., de Die-Smulders, Christine E. M., Frints, Suzanne G. M., de Wert, Guido M. W. R.   +4 more
openaire   +2 more sources

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics, 2021
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid ...
Giulia Sabbatinelli, Donatella Fantasia, Chiara Palka, Elisena Morizio, Melissa Alfonsi, Giuseppe Calabrese   +5 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source