Results 41 to 50 of about 6,378 (227)

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication

Journal of Comparative Effectiveness Research, 2023
Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: According to the different indications for amniocentesis, the study was divided into 8 ...
Yi Liu, Xue-Cheng Sun, Guo-Jian Lv, Ji-Hong Liu, Chen Sun, Kai Mu   +5 more
doaj   +1 more source

Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands

BMC Pregnancy and Childbirth, 2022
Background Non-invasive prenatal testing (NIPT) as a screening method for trisomy 21 and other chromosomal abnormalities has been adopted widely across the globe.
Syanni A. Kristalijn, Karen White, Deanna Eerbeek, Emilia Kostenko, Francesca Romana Grati, Caterina M. Bilardo   +5 more
doaj   +1 more source

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

BMC Pregnancy and Childbirth, 2017
Background The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of
Kerry Oxenford, Rebecca Daley, Celine Lewis, Melissa Hill, Lyn S. Chitty   +4 more
doaj   +1 more source

Sequencing Shorter cfDNA Fragments Decreases the False Negative Rate of Non-invasive Prenatal Testing

Frontiers in Genetics, 2020
Circulating fetal cell-free DNA (cfDNA) is generally shorter than maternal cfDNA. Size selection of shorter cfDNA in total cfDNA could significantly increase the fetal fraction, but there are few reports of using this method to decrease the false ...
Ying Xue, Ying Xue, Guodong Zhao, Guodong Zhao, Longwei Qiao, Longwei Qiao, Jiafeng Lu, Jiafeng Lu, Bin Yu, Ting Wang, Ting Wang   +10 more
doaj   +1 more source

Non-invasive prenatal testing in mitigating concerns from invasive prenatal diagnostic testing: retrospective assessment of utility in an academic healthcare system in the US

BMJ Open, 2022
Objective Non-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test ...
Kibum Kim, Linda Kaitlyn Craft
doaj   +1 more source

Dual‐Function Electrocatalysis: Simultaneous Wastewater Remediation and Hydrogen Evolution—A Comprehensive Review

Carbon Energy, EarlyView.
Replacing the oxygen evolution reaction with the electro‐oxidation of pollutants and waste streams offers an energy‐efficient route for simultaneous hydrogen production and pollutant remediation. This review summarizes the reaction mechanisms, catalyst design principles, and emerging paired‐electrolysis strategies that govern activity, selectivity ...
Safa Al‐Yahyaey, Rashid Al‐Hajri, Ala'a H. Al‐Muhtaseb, Hussein A. Younus, Mohammed Al‐Abri   +4 more
wiley   +1 more source

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era [PDF]

Clinical Case Reports, 2020
AbstractIn the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
Evy Vervecken, Bettina Blaumeiser, Tina Vanderheyden, Jan Hauspy, Katrien Janssens   +4 more
openaire   +4 more sources

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

NIPT outcomes.

, 2016
NIPT outcomes.
Celine Lewis (2591242), Lyn S. Chitty (135435), Melissa Hill (548604)   +2 more
core   +1 more source