Journal Club: Prenatal Screening for Down Syndrome: Talking About Risks

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منابع مشابه

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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12 Prenatal screening for Down syndrome

At the turn of the century, several Western countries introduced prenatal screening for Down syndrome. Technology became widely and easily available, and the combination of ultrasound and then blood tests made it possible to screen the entire pregnant population. For the first time in history, there was a chance of detecting, and eventually aborting, most instances of Down syndrome, and at rela...

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Cross-trimester marker ratios in prenatal screening for Down syndrome.

OBJECTIVE To examine the performance of Integrated Down syndrome screening (first- and second-trimester measurements integrated into a single screening test) when ratios of the levels of the same serum markers measured in both these trimesters (cross-trimester ratios) are added as new screening markers. METHODS Using data from Serum Urine and Ultrasound Screening Study (SURUSS), second-trimes...

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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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Prenatal screening for Down's syndrome.

Balanced and accurate information about Down's syndrome. The fact that screening does not give a definite diagnosis. An explanation of the risk score obtained following screening. The screening pathway and next steps for screen-positive and screen-negative results, including information about the decisions that need to be made at each step and their consequences. Information about amniocentesis...

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ژورنال

عنوان ژورنال: Community Genetics

سال: 2004

ISSN: 1422-2833,1422-2795

DOI: 10.1159/000082259