Results 61 to 70 of about 1,997,745 (357)

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population‐based retrospective study in Ontario, Canada

Acta Obstetricia et Gynecologica Scandinavica
Introduction Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with adverse outcomes such as pregnancy loss; however, extant studies investigating these ...
Kara Bellai‐Dussault, Shelley D. Dougan, Deshayne B. Fell, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. Potter   +9 more
doaj   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study

Frontiers in Genetics
BackgroundHearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allelic heterogeneity,
Chang Liu, Chang Liu, Yanlin Huang, Yanlin Huang, Anpeng Fu, Anpeng Fu, Yunan Wang, Yunan Wang, Jing Wu, Jing Wu, Yan Zhang, Yan Zhang, Li Du, Li Du, Hongke Ding, Hongke Ding, Lihua Yu, Lihua Yu, Fake Li, Fake Li, Yiming Qi, Yiming Qi, Yuan Liu, Yuan Liu, Xingwang Wang, Xingwang Wang, Yukun Zeng, Yukun Zeng, Ling Liu, Ling Liu, Ying Xiong, Ying Xiong, Yuanling Liu, Yuanling Liu, Xin Zhao, Xin Zhao, Liyuan Fang, Liyuan Fang, Jiayi Jian, Jiayi Jian, Aihua Yin, Aihua Yin, Yanqin You   +42 more
doaj   +1 more source

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

BMC Medical Genetics, 2018
Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “ p.Ser339Phe c.1016C>T ” (as given in Number 117 of Additional file 2).
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong   +8 more
doaj   +1 more source

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

PLoS ONE, 2019
Objectives Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide.
Wei Zhang, T. Mohammadi, Julie Sou, A. Anis   +3 more
semanticscholar   +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

Evaluation of the prenatal diagnostic value of non-invasive prenatal testing for the detection of rare fetal autosomal trisomies: a single center study of 83,842 cases

Scientific Reports
To investigate the prenatal diagnostic value and pregnancy outcomes of rare autosomal trisomies (RATs) as indicated by non-invasive prenatal testing (NIPT), and to contribute to good childbearing.
Yiming Chen, Xiaoxia Wu, Huawei Li, Yixuan Yin, Yanzhen Zhang   +4 more
doaj   +1 more source

Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access

Journal of Medical Ethics, 2019
The introduction of non-invasive prenatal testing (NIPT) in healthcare systems around the world offers an opportunity to reconsider funding policies for prenatal screening.
E. M. Bunnik, A. Kater-Kuipers, R. Galjaard, I. D. de Beaufort   +3 more
semanticscholar   +1 more source

“[She] said : ‘take the test’ and I took the test”. Relational work as a framework to approach directiveness in prenatal screening of Chinese clients in Hong Kong [PDF]

, 2013
In this paper we apply the framework of relational work, or the work individuals invest in maintaining their relationships (Locher and Watts 2005), to the analysis of prenatal screening (PS) for Down Syndrome of Chinese clients in Hong Kong.
Schnurr, S, Zayts, Olga, Zayts, OA, Schnurr, Stephanie   +3 more
core   +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

Mortality and morbidity of major congenital heart disease related to general prenatal screening for malformations.

International Journal of Cardiology, 2019
BACKGROUND Major congenital heart diseases (CHD) often demand intervention in the neonatal period. Prenatal diagnosis may improve mortality by eliminating the diagnostic delay; however, there is controversy concerning its true effect.
R. Lytzen, N. Vejlstrup, J. Bjerre, O. Petersen, Stine Leenskjold, J. K. Dodd, F. Jørgensen, L. Søndergaard   +7 more
semanticscholar   +1 more source