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Are there characteristics of the false-negative cases from the first trimester combined screening programme for Down syndrome?

Hartwig, Tanja Schlaikjæra,b; Sørensen, Steenb; Jørgensen, Finn Stenera

Current Opinion in Obstetrics and Gynecology: April 2014 - Volume 26 - Issue 2 - p 110–116
doi: 10.1097/GCO.0000000000000054
PRENATAL DIAGNOSIS: Edited by James F. Smith Jr

Purpose of review To review if there are any characteristics of false-negative cases from the first trimester combined screening programme for Down syndrome and by that to stimulate new approaches for improvements of the screening performance.

Recent findings We are aware of only two studies based on screening results of false-negative cases. Screening results from false-negative cases show that maternal age is lower, nuchal translucency smaller, pregnancy-associated plasma protein-A level higher, β-human chorionic gonadotropin level lower and crown-rump length bigger than among true positive cases. Around 50% of false-negative cases had a final risk between 1 : 300 and 1 : 1000. There might also be a difference in maternal smoking status, conception method, ethnicity and weight discrepancy between false-negative and true positive cases. New biomarkers and secondary sonographic markers may also characterize false-negative cases, but investigations on these subjects have not been done so far. Finally, we think that the organization of a screening programme in all its details is a very important factor when it comes to optimizing screening performance.

Summary Screening parameters of false-negative cases tend toward the values of unaffected pregnancies with lower maternal age, smaller nuchal translucency, higher pregnancy-associated plasma protein-A level, lower β-human chorionic gonadotropin level and bigger crown-rump length than among true positive cases.

aFetal Medicine Unit, Department of Obstetrics and Gynecology

bDepartment of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark

Correspondence to Dr Finn Stener Jørgensen, MD, DMSc, Consultant, Head FMU, Associate Professor, Fetal Medicine Unit, Department of Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Kettegårds Allé 30, DK-2650 Hvidovre, Denmark. Tel: +45 38622608; e-mail:

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins