Results 71 to 80 of about 17,532 (272)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy

, 2023
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children.
Delatycki, MB, Johnston, M, Taylor-Sands, M, Hui, L, Mills, C, Pertile, MD, Savulescu, J, Warton, C   +7 more
core   +1 more source

The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis.

PLoS ONE, 2019
ObjectiveNon-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is highly accurate in the detection of common fetal autosomal trisomies.
Federico Prefumo, Davide Paolini, Giulia Speranza, Marilena Palmisano, Matteo Dionisi, Lamberto Camurri   +5 more
doaj   +1 more source

Early stages of tooth development in the harbor porpoise Phocoena phocoena

The Anatomical Record, EarlyView.
Abstract Here we describe the stages of tooth development in toothed whales on the basis of the harbor porpoise (Phocoena phocoena). The aim of the study was to find out whether these stages are identical to those of other mammals analyzed so far although toothed whales are homodont and monophyodont.
Lasse M. Mathes, Lennart Müller‐Thomsen, Stefan Huggenberger   +2 more
wiley   +1 more source

False negativity for trisomy 18 in non-invasive prenatal testing: A case report

Case Reports in Women's Health
False-negative results in non-invasive prenatal testing are rare but clinically significant, particularly in the presence of biological factors such as feto-placental mosaicism.
Natália Andová, Vanda Repiská, Petra Priščáková, Lajos Gergely, Michaela Hýblová, Gabriel Minárik   +5 more
doaj   +1 more source

Éviter les « pièges » du dépistage prénatal non invasif

Cahiers Droit, Sciences & Technologies, 2022
Prenatal screening for trisomy 21 has considerably evolved in recent years thanks to the advent of non-invasive prenatal screening tests based on cell free DNA analysis.
Laïla El Khattabi
doaj   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather
core   +1 more source

Characteristics and long‐term outcomes of children with confirmed focal cortical dysplasia type 1 after epilepsy surgery: A population‐based study

Epilepsia Open, EarlyView.
Abstract Objective Focal cortical dysplasia type 1 (FCD1) is a rare and heterogeneous cause of drug‐resistant epilepsy (DRE) in children. Its clinical characteristics remain poorly understood, and surgical outcomes may be less favorable than in FCD2. We conducted a population‐based study to characterize the clinical presentation and long‐term seizure ...
Vincent Zheng, Päivi Koroknay‐Pál, Henri Lehtinen, Eija Gaily, Atte Karppinen, Anders Paetau, Olli Tynninen, Heta Leinonen, Aki Laakso, Eeva‐Liisa Metsähonkala   +9 more
wiley   +1 more source