Results 171 to 180 of about 325,849 (292)

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Chorus

open access: yes, 2012
Source: Friedrich Schiller: Sämtliche Werke, Auf Grund der Originaldrucke herausgegeben von Gerhard Fricke und Herbert G. Göpfert in Verbindung mit Herbert Stubenrauch, Band 1–5, 3. Auflage, München: Hanser, 1962.
openaire   +1 more source

Multimodal Treatment of Neck Pain in Multiple System Atrophy

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Bianca Caliò   +2 more
wiley   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois   +5 more
wiley   +1 more source

A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

open access: yes
Movement Disorders, EarlyView.
Roberta Bovenzi   +8 more
wiley   +1 more source

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