Results 41 to 50 of about 100,096 (312)

Non-Invasive Prenatal Testing in Germany

Diagnostics, 2022
In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test.
Thomas Liehr, Tigran Harutyunyan, Heather Williams, Anja Weise   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]

, 2004
INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
core  

Medical Students’ Understanding of Down Syndrome in Prenatal Diagnosis: A Cross-sectional Study of Awareness and Knowledge

Advances in Human Biology
Introduction: The purpose of this study was to evaluate the awareness level, attitudes and educational needs of medical students towards Down syndrome (DS) with a special focus on prenatal screening, diagnostic tests and related clinical implications ...
Tayseer Al Muteri
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Understandings of Down's syndrome and their place in the prenatal testing context [PDF]

, 2003
INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
core  

Next-Generation Prenatal Testing [PDF]

, 2021
Since the advent of prenatal genetic testing, the amount of information available to prospective parents has expanded rapidly. Whole genome sequencing and machine learning will see this expansion of information become an explosion in the near future ...
Sullivan, Rebecca, Bonate, Ryan, Crowley, Hannah, Suarez, Victor, Bielanski, Anna   +4 more
core  

Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing

Molecular and Cellular Probes, 2023
This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal care.
Lilla Botos, Erzsébet Szatmári, Gyula Richárd Nagy   +2 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
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