Journal Club: Preferences for Down Syndrome Screening

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Screening for Down syndrome

In 1866 J Langdon Down made the observation of a subgroup of patients with particular facial features and mental handicap in the outpatient department of the London Hospital 1. In the late 1950’s, it was shown that an extra acrocentric chromosome was present in persons with Down syndrome, resulting in a diploid chromosome number of 47. It is now known that Down syndrome results when either the ...

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Journal Club for Nurses

Methods The nurse’s competencies and knowledge about using literature based on research, was examined through an anonymous questionnaire. The purpose was to identify the nurse’s competencies and knowledge about evidence-based medicine and evidence-based nursing. A steering committee with representatives from the department’s leadership and the clinical specialist has been collected. They choose...

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Prenatal Screening for Down Syndrome

Down syndrome ([DS] trisomy 21) is the most common cause of intellectual disability worldwide, affects approximately 1:500 pregnancies and is seen in 1:800 to 1:1,000 live births [1]. Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Genetic prenatal diagnosis (PD) for DS, since its introduction in the late 1960s, ...

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Women’s preferences for antenatal screening for Down syndrome in Northern Ireland: a choice experiment

Background. Despite an increasing international trend towards the implementation of antenatal screening programmes for Down syndrome, there is currently limited information relating to women’s choices or preferences for such screening. Information about women’s preferences for and insight into the potential value they may derive from any change to screening programme design are essential compon...

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The Optimal Risk Cutoff Values for down Syndrome Screening Considering Women's Preferences

Prenatal screening for Down syndrome (DS) based on biomarker levels provides expectant parents with an estimated risk of a DS baby. The risk cutoff value of a prenatal screening test determines the detection and false positive rates and the selection of follow-up procedures, such as an invasive diagnostic test. Women who consider prenatal screening might face two undesirable outcomes: undetecte...

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ژورنال

عنوان ژورنال: Public Health Genomics

سال: 2004

ISSN: 1662-4246,1662-8063

DOI: 10.1159/000078508