Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method

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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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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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Prenatal genetic screening for Down syndrome and open neural tube defects using maternal serum markers in Thai pregnant women.

Maternal serum screening has gained widespread acceptance as a major prenatal screening tool for chromosomal abnormalities in the US and Europe since Merkatz et al described an association between low maternal serum alpha fetoprotein (AFP) levels and increased risk for trisomy 21 in 1984. In 1988, Wald et al proposed a screening program based on maternal age in combination with three biochemica...

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Background MNSI is widely used for evaluation of distal symmetric peripheral polyneuropathy (PPN) in individuals with diabetes. In the DCCT/EDIC study, the MNSI was validated for screening of signs and symptoms of PPN, presenting, for a cutoff of ≥2.5, sensitivity of 61%, specificity of 79%, positive predictive value (PPV) of 55% and negative (NPV) of 83%, when compared to neurological examinat...

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ژورنال

عنوان ژورنال: Journal of Medical Biochemistry

سال: 2018

ISSN: 1452-8266

DOI: 10.1515/jomb-2017-0022