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Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study
Author(s) -
MacRae Andrew R.,
Chodirker Bernie N.,
Davies Gregory A.,
Palomaki Glenn E.,
Knight George J.,
Minett Jane,
Kavsak Peter A.,
Toi Ants,
Chitayat David,
Van Caeseele Paul G.
Publication year - 2010
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2502
Subject(s) - medicine , false positive rate , false positive paradox , nuchal translucency , obstetrics , nuchal translucency measurement , pregnancy , down syndrome , first trimester , gynecology , fetus , statistics , biology , genetics , mathematics , psychiatry
Objectives Document patient choices and screening performance (false positive and detection rates) when three improved Down syndrome screening protocols were introduced coincidentally. Method Second‐trimester ‘triple marker’ screening was expanded by adding second‐trimester dimeric inhibin‐A (four‐marker), with or without first‐trimester pregnancy‐associated plasma protein‐A (five‐marker). Nuchal translucency (NT) measurements were included when available from accredited sonographers (six‐marker). For assigning risk, two sets of marker distribution parameters were evaluated. Results Over 3.5 years, 8571 women enrolled (median age 30.6 years). Uptake of the four‐, five‐ and six‐marker protocols was 18%, 46% and 36%, respectively. Of those selecting an integrated test (five or six markers), 9.7% did not provide the second trimester serum sample. False positive rates decreased with added markers (5.2%, 5.1% and 2.5%, respectively) and varied between the two parameter sets, while detection remained high. Overall, 21 of 23 cases were detected (91%, 95% CI 73–98%) at a 4.2% false positive rate (95% CI 3.3–5.1%). Conclusions Integrated screening protocols were chosen 4.6 times more often than four‐marker screening (82% vs. 18% uptake). Overall detection was higher and false positives lower, consistent with recent guidelines. Important performance factors include gestational dating method, risk cut‐off, and the parameter set used to assign risk. Copyright © 2010 John Wiley & Sons, Ltd.