
UPDATED MODELING PARAMETERS FOR
DOWN’S SYNDROME SCREENING
Cuckle HS* *Corresponding Author: Professor Howard S. Cuckle, Reproductive Epidemiology, University of Leeds, 3 Gemini Park, Sheepscar Way, Leeds LS7 3JB, North Yorkshire, UK; Tel.: +44-113-284-9230; Fax: +44-113-262-1658; E-mail: h.s.cuckle@leeds.ac.uk page: 101
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Abstract
In Down’s syndrome (DS) screening, multi-variate Gaussian modeling is used to estimate the risk of an affected pregnancy from the marker profile, maternal age and family history. The most reliable models use parameters based on meta-analysis of published studies and tailored to the local screening population. In this paper the meta-analysis approach is extended to second trimester inhibin, combining first trimester pregnancy associated plasma protein (PAPP)-A, with second trimester markers, and ultrasound first trimester nuchal translucency (NT)and second trimester nuchal skin-fold (NF) thickness. The existing and updated meta-analysis parameters are used to predict screening performance for the related policies yielding a detection rate for a 5% false-positive as high as 90-93%.
Keywords: Down’s syndrome (DS); Screening; Parameters; Modeling; Performance.
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