Results 141 to 150 of about 195,583 (261)

Deep-learning models improve on community-level diagnosis for common congenital heart disease lesions [PDF]

arXiv, 2018
Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital
arxiv  

Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results [PDF]

, 2020
With the increasing capabilities of non-invasive prenatal testing (NIPT), detection of sub-chromosomal deletions and duplications are possible.
Boomer, Theresa, Caldwell, Samantha, Frey, Jennifer, McCullough, Ron, Nelson, Zoe, Sagaser, Katelynn, Schwartz, Stuart, Wardrop, Jenna   +7 more
core   +1 more source

Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study

Prenatal Diagnosis, Volume 45, Issue 3, Page 348-351, March 2025.
ABSTRACT Objective To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st‐trimester screening for aneuploidies. Method A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022.
Cathrine Vedel, Richard Farlie, Laura Vase, Lise Hald Nielsen, Ann Nygaard Jensen, Sidsel Svennekjaer Barken, Karina Hjort‐Pedersen, Olav Bjørn Petersen   +7 more
wiley   +1 more source

Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysis

Cost Effectiveness and Resource Allocation, 2020
Background Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma is a high accurate test for prenatal screening for Down syndrome.
L. Nshimyumukiza, J. A. Beaumont, F. Rousseau, D. Reinharz   +3 more
doaj   +1 more source

Women’s decision making process regarding prenatal diagnostic testing [PDF]

, 2017
Objective: Expanding the original scope of the study, which was to explore the decision-making process of pregnant women in the uptake of invasive diagnostic tests - amniocentesis and Chorionic Villus Sampling (CVS) – and taking into account the latest ...
Tzafettas, Marilena
core  

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center [PDF]

Archives of Gynecology and Obstetrics, 2015
The introduction of non-invasive prenatal testing (NIPT) by isolation of cell-free fetal DNA from maternal blood is a new diagnostic option in prenatal care. The aim of the study was to investigate the algorithm of prenatal testing before and after the introduction of NIPT in a tertiary referral center and to investigate the influence of NIPT on the ...
Manegold-Brauer, Gwendolin, Berg, C., Floeck, A., Rueland, A., Gembruch, U., Geipel, A.   +5 more
openaire   +3 more sources

BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low‐Coverage Whole‐Genome Sequencing‐Based NIPT

Prenatal Diagnosis, Volume 45, Issue 3, Page 352-361, March 2025.
ABSTRACT Objective Clinically pathogenic chromosomal microdeletions cause severe genetic disorders. Motivated by the absence of reliable screening of microdeletions during the first‐trimester screening, we developed BinDel, a software tool to determine the risk of clinically relevant pathogenic fetal microdeletions from low‐coverage whole‐genome ...
Priit Paluoja, Tatjana Jatsenko, Hindrek Teder, Kaarel Krjutškov, Joris Robert Vermeesch, Andres Salumets, Priit Palta   +6 more
wiley   +1 more source

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters

Frontiers in Genetics, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu, Yiyang Zhu, Yiyang Zhu, Qunda Shan, Qunda Shan, Jiayong Zheng, Qunxi Cai, Huanli Yang, Jianhong Zhang, Xiaodong Du, Fan Jin, Fan Jin   +11 more
doaj   +1 more source

Autonomy and prevention: From conflicting to complementary aims of prenatal screening

Bioethics, Volume 39, Issue 3, Page 259-266, March 2025.
Abstract From an ethical point of view, there is an important distinction between two types of prenatal screening. The first of these targets maternal or foetal conditions (e.g., infectious diseases, blood group sensitization) where early detection allows for interventions that improve the chances of a healthy pregnancy outcome.
Wybo Dondorp, Guido de Wert, Ellis C. Becking, Peter G. Scheffer, Mireille Bekker, Lidewij Henneman   +5 more
wiley   +1 more source

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya), Makukh, H. (Halyna), Prokopchuk, N. (Natalia), Sharhorodska, Y. (Yevheniya)   +3 more
core   +3 more sources