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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Milner, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Chappelle, Joseph / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Dimitrou, G. / Grunebaum, Amos / Hentschel, Roland / Köpcke, W. / Kawabata, Ichiro / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lee, Ben H. / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Makatsariya, Alexander / Nishida, Hiroshi / Ogata, Edward / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Romero, Roberto / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

IMPACT FACTOR increased in 2015: 1.798
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SCImago Journal Rank (SJR) 2014: 0.731
Source Normalized Impact per Paper (SNIP) 2014: 0.687
Impact per Publication (IPP) 2014: 1.483

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Combined first trimester screening for trisomy 21: lack of agreement between risk calculation methods

Peter N.A.C.M. Van Heesch1 / Peter C.J.I. Schielen2 / Mark F. Wildhagen3 / Karin den Hollander4 / Eric A.P. Steegers5 / Hajo I.J. Wildschut6







Corresponding author: Dr Hajo I.J. Wildschut Consultant in Obstetrics and Gynecology Erasmus University Medical Center Obstetrics and Gynaecology Dr Molewaterplein 40 3015 GD Rotterdam/The Netherlands

Citation Information: Journal of Perinatal Medicine. Volume 34, Issue 2, Pages 162–165, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/JPM.2006.029, March 2006

Publication History

August 5, 2005
November 2, 2005
Published Online:


Objective: To call attention to differences in first trimester risk estimates for trisomy 21, as calculated by two different software packages.

Methods: A total of ninety-four pregnant women who had a first trimester risk assessment for trisomy 21 that was based on maternal age, biochemical analysis and a nuchal translucency (NT) measurement. Two commonly used software packages were used for the estimation of individual risks (i.e. Wallac-Perkin-Elmer® software and Fetal Medicine Foundation® software).

Results: Risk estimates derived from each software programme were strikingly different. In each case the discrepancy in reported magnitude of risk resulted from disparities between the two calculation methods for the assessment of the individual risk for trisomy 21. The disparities in risk estimates can be explained by significant differences in reported likelihood ratios for biochemical analyses (P=0.01), NT measurements (P<0.0001) and both screening parameters combined P=0.003).

Conclusion: It is illustrated that the lack of agreement between these risk calculation methods could give rise to major counselling problems. In order to avoid confusion, there is a need for estimating individual risks of trisomy 21 in a standardized way. It is proposed to select a set of parameters that have a proven track record as judged by detection and false positive rates and then use that set exclusively, while simultaneously monitoring its performance.

Keywords: Biochemistry; first trimester screening; nuchal translucency; trisomy 21; truncation

Citing Articles

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DeAnn Smith
Newborn and Infant Nursing Reviews, 2008, Volume 8, Number 1, Page e1
Peter N. van Heesch, Pieter C. Struijk, Jaqueline A.M. Laudy, Eric A.P. Steegers, and Hajo I.J. Wildschut
Journal of Perinatal Medicine, 2010, Volume 38, Number 3

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