OC14: Integrated screening for Down syndrome in routine clinical practice

2006 ◽  
Vol 28 (4) ◽  
pp. 362-363 ◽  
Author(s):  
P. Pandya ◽  
P. Jones ◽  
W. Huttly ◽  
C. Rodeck ◽  
N. Wald
Keyword(s):  
Down Syndrome ◽  
Clinical Practice ◽  
Routine Clinical Practice ◽  
Integrated Screening

First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice

2004 ◽  
Vol 24 (10) ◽  
pp. 774-780 ◽  
Author(s):  
E. J. Stenhouse ◽  
J. A. Crossley ◽  
D. A. Aitken ◽  
K. Brogan ◽  
A. D. Cameron ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Clinical Practice ◽  
First Trimester ◽  
Routine Clinical Practice ◽  
Biochemical Screening

scholarly journals Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice

2006 ◽  
Vol 26 (8) ◽  
pp. 711-718 ◽  
Author(s):  
P. C. J. I. Schielen ◽  
M. van Leeuwen-Spruijt ◽  
I. Belmouden ◽  
L. H. Elvers ◽  
M. Jonker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Clinical Practice ◽  
The Netherlands ◽  
First Trimester ◽  
Routine Clinical Practice ◽  
First Trimester Screening ◽  
Trimester Screening

Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Imaging Techniques ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Routine Clinical Practice ◽  
Clinical Approach ◽  
Diagnosis And Management ◽  
Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

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