Ultraschall Med 2012; 33(7): E57-E61
DOI: 10.1055/s-0031-1299083
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Screening auf Trisomie 18 und Trisomie 13 durch das kombinierte Anwenden der Risiko-Algorithmen für Trisomie 21, 18 und 13

First-Trimester Screening for Trisomies 18 and 13 with the Combined Use of the Risk Algorithms for Trisomy 21, 18 and 13
K. Lüthgens
1   Laboratory Medicine, Labor Prof. Enders und Partner, Stuttgart
,
M. Hoopmann
2   Department of obstetrics and gynaecology, University of Tübingen
,
R. Alkier
1   Laboratory Medicine, Labor Prof. Enders und Partner, Stuttgart
,
H. Abele
2   Department of obstetrics and gynaecology, University of Tübingen
,
B. Yazdi
2   Department of obstetrics and gynaecology, University of Tübingen
,
K. Kagan
2   Department of obstetrics and gynaecology, University of Tübingen
› Author Affiliations
Further Information

Publication History

28 April 2011

15 December 2011

Publication Date:
24 January 2012 (online)

Zusammenfassung

Ziel: Beurteilung der Testgüte des kombinierten Ersttrimester-Screenings auf Trisomien 18 und 13 bei gemeinsamer Verwendung der Risikoalgorithmen für Trisomie 21, 18 und 13 in einem deutschen Patientenkollektiv.

Material und Methoden: Bei 39 004 Schwangerschaften wurde zwischen 2002 und 2007 im Rahmen des Ersttrimester-Screenings die fetale NT, PAPP-A und freies β-hCG gemessen. Im Rahmen dieser Studie erfolgte die erneute Auswertung der Trisomie-21-, -18- und -13-Risiken mit dem aktuellen Algorithmus der FMF London.

Ergebnisse: 38 751 Einlingsschwangerschaften, darunter 39 Fälle einer Trisomie 18 oder Trisomie 13, konnten in die Auswertung einbezogen werden. In diesen Fällen lag die mediane delta NT bei 0,72 mm, PAPP-A bei 0,21 MoM und das freie β-hCG bei 0,33 MoM. Die NT lag nur bei 41 % der Trisomie-18/13-Fälle oberhalb der 95. Perzentile. Die alleinige Anwendung des Trisomie-18/13-Algorithmus führte bei einem Cut-off von 1:100 zu einer Detektionsrate für die Trisomien 18/13 von 82 % bei einer Falsch-Positivrate von 0,7 %. Bei alleiniger Verwendung des Trisomie-21-Algorithmus mit einem Cut-off 1:200 wurden bei einer Falsch-Positivrate von 4,7 % 56,4 % der Trisomie-18/13-Fälle erkannt. Bei kombinierter Anwendung beider Algorithmen mit gleichen Cut-off-Werten stieg die Trisomie-18/13-Detektionsrate auf etwa 94,9 %. Die Falsch-Positivrate stieg dabei aber nur um 0,3 auf 5,0 %.

Schlussfolgerung: Die gemeinsame Anwendung des Trisomie-21-, -18- und -13-Algorithmus der FMF London führt unter Routinebedingungen trotz der Unterschätzung der NT zu einer 95 %-Detektionsrate für die Trisomien 18 und 13.

Abstract

Purpose: Assessment of first-trimester combined screening for trisomy 18 and 13 with the combined use of the risk algorithms for trisomy 21, 18 and 13.

Materials and Methods: First-trimester combined screening based on maternal and gestational age, fetal NT, PAPP-A and free β-hCG was assessed in 39 004 pregnancies. Patient-specific risks for trisomy 21, 18, 13 were computed based on the current FMF London algorithm.

Results: The study population consisted of 38 751 singleton pregnancies including 39 cases with trisomy 18 or 13. In the aneuploid group, median delta NT was 0.72 mm, PAPP-A was 0.21 MoM and free β-hCG was 0.33 MoM. Although only 41 % of the NT measurements of fetuses with trisomy 18 or 13 were above the 95th percentile, the detection rates for trisomy 18 or 13 were 82 % with the trisomy 18/13 algorithm and 56.4 % with the trisomy 21 algorithm. The respective false-positive rates were 0.7 % and 4.7 %. The combination of the trisomy 18/13 and the trisomy 21 algorithm with the same cut-offs led to a detection rate of 94.9 % at an overall false-positive rate of 5.0 %.

Conclusion: Despite a substantial underestimation of the fetal NT, the combined use of the trisomy 18/13 and the trisomy 21 algorithm of the FMF London leads to a detection rate for trisomy 18/13 of about 95 % for a false-positive rate of 5.0 %.

 
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