Results 61 to 70 of about 3,347 (156)

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Complex chromosomal rearrangements (CCRs) are rare chromosomal structural abnormalities that are often difficult to be detected. Chromosome conformation‐based karyotyping (c‐Moka) is an emerging technology designed to analyze the three‐dimensional structure of chromosomes, thereby identifying various types of chromosomal structural variations.
Duo Zhou, Wenchang Lian, Huoniao Wang, Renliang Huang, Jie Deng, Shujing Jiao, Qiaomiao Zhou   +6 more
wiley   +1 more source

Le(s) paysage(s) éthique(s) du dépistage prénatal non invasif en Angleterre, en France et en Allemagne : résultats d’une analyse documentaire comparative

Cahiers Droit, Sciences & Technologies, 2022
In this paper, we analyse how the issues ethical related to the introduction of non-invasive prenatal testing (NIPT) into the public health systems of England, France and Germany are discussed differently across countries, echoing the different cultural ...
Dr Ruth Horn, Dr Adeline Perrot
doaj   +1 more source

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
Mariane de Montalembert, Maria D. Cappellini, Achille Iolascon, Lucia de Franceschi, Eda Ömur, Michele Abi Saad, Immacolata Andolfo, Celeste Bento, Maria Berghs, Doris Bonnet, Andreas Glenthoj, Beatrice Gulbis, Tuphan K. Dolai, Jorge Lima, Irene Motta, Roberta Russo, Ali Taher, Leon Tshilolo, Antonio Almeida, David Rees   +19 more
wiley   +1 more source

Non-invasive prenatal testing (NIPT) for fetal sex determination [PDF]

, 2016
Source at https://www.helsebiblioteket.no/X‐bundne recessive sykdommer er alvorlige arvelige sykdommer som hovedsakelig rammer gutter. Når en kvinne som er bærer av en X‐bundet recessiv sykdom føder barn, kan hun få en frisk jente, en frisk jente som
Solberg, Berge, Schneider, Anna, Ormstad, Sari Susanna, Fure, Brynjar, Juvet, Lene Kristine   +4 more
core  

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

, 2014
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID ...
Abigail Howarth (16444251), Stephen Morris (324510), Christopher Boustred (16444218), Melissa Hill (548604), Rebecca Daley (3967937), David Wright (116911), Celine Lewis (2591242), Nicholas Lench (209486), Kitty Lo (8177241), Sarah Mason (375898), Kevin Spencer (3548780), Vincent Plagnol (50600), Mark Kroese (16444260), Fiona Mckay (14541479), Lyn S Chitty (16444224), Jane Fisher (423293)   +15 more
core   +1 more source

Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program [PDF]

, 2022
The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood.
van der Meij, Karuna Rosa Mariyah, van der Meij, KRM   +1 more
core  

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Molecular Cytogenetics, 2023
Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations.
Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak   +11 more
doaj   +1 more source

Gendered and nongendered language in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Language is essential to genetic counseling. Genetic counselors use language to accurately communicate complex medical phenomena and support patients' understanding and wellbeing. This qualitative descriptive study explored how practicing genetic counselors used gendered and non‐gendered language in patient interactions and the motivations ...
Helen Anderson, B. Ethan Coston, Tahnee Causey, Rachel Wood, John Quillin   +4 more
wiley   +1 more source

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs

Molecular Cytogenetics, 2023
Objective To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). Methods The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT.
Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng   +7 more
doaj   +1 more source

Semi‐Automated Platform for Early Prenatal Coelocentesis Testing Using Electrospun Nanofiber Technology

Macromolecular Materials and Engineering, Volume 311, Issue 6, June 2026.
A semi‐automated approach for early prenatal diagnosis is developed for low‐cellularity samples from coelocentesis by exploiting biotin/streptavidin interaction to functionalize electrospun mats with antibodies. With potential microfluidic integration, the resulting platform enables fetal cell capture, offering a strategy toward improved efficiency and
Emanuela Muscolino, Anna Barbara Di Stefano, Santina Acuto, Clelia Dispenza   +3 more
wiley   +1 more source