The role of ultrasound in first-trimester screening after the introduction of NIPT as a service of public health insurance – a consensus statement of the Fetal Medicine Foundation (FMF) Germany

Eberhard Merz; Bernd Eiben; Christian Thode; Bernhard-Joachim Hackelöer; Renaldo Faber; Sevgi Tercanli; Rudolf Alkier

doi:10.1055/a-2104-2689

Ultraschall in der Medizin - European Journal of Ultrasound, Table of Contents

Ultraschall Med 2023; 44(06): 600-605
DOI: 10.1055/a-2104-2689

Guidelines & Recommendations

The role of ultrasound in first-trimester screening after the introduction of NIPT as a service of public health insurance – a consensus statement of the Fetal Medicine Foundation (FMF) Germany

Die Rolle des Ersttrimester-Screenings nach Einführung von NIPT als Kassenleistung. Ein Konsensus-Statement der Fetal Medicine Foundation (FMF) Deutschland

Eberhard Merz

¹Obstetrics & Gynecology, Centre for Ultrasound and Prenatal Medicine, Frankfurt, Germany

,

Bernd Eiben

²Institut für Klinische Genetik Nordrhein, Labor Eiben Glaubitz, Essen, Germany

,

Christian Thode

³Laboratoriumsmedizin, MVZ wagnerstibbe für Laboratoriumsmedizin und Pathologie GmbH, Göttingen, Germany

,

Bernhard-Joachim Hackelöer

⁴Gynecology and Prenatal Medicine, Pränatale-Gynäkologie-Mammasonografie Hamburg, Praxis, Hamburg, Germany

,

Renaldo Faber

⁵Leipzig, Center of Prenatal Medicine, Leipzig, Germany

,

Sevgi Tercanli

⁶Praxis, Universitätsspital Basel, Basel, Switzerland

,

Rudolf Alkier

⁷Clinical Chemistry, Labor Enders Prof Dr med Gisela Enders and Colleagues MVZ GbR, Stuttgart, Germany (Ringgold ID: RIN197669)

› Author Affiliations

Abstract

Combined first-trimester screening (FTS) and noninvasive prenatal testing (NIPT) have been proven to be reliable noninvasive procedures to detect the most common chromosomal abnormalities (trisomies 21, 18, 13) in the first trimester. The aim of this paper is to demonstrate the strengths and limitations of these two procedures and to give a consensus statement of the Fetal Medicine Foundation (FMF) Germany on how to use the two techniques in the first trimester after the introduction of NIPT as a service of the statutory health insurance companies in Germany.

Zusammenfassung

Das kombinierte Ersttrimester-Screening und der nichtinvasive DNA-Test (NIPT) haben sich als verlässliche nichtinvasive Verfahren zur Diagnostik der häufigsten Chromosomen-Anomalien (Trisomie 21, 18, 13) im 1. Trimenon gezeigt. Das Ziel dieser Publikation ist es, die Stärken, wie auch die Limitierungen, beider Verfahren aufzuzeigen und ein Konsensus-Statement der Fetal Medicine Foundation (FMF) Deutschland abzugeben, wie beide Techniken im 1. Trimenon eingesetzt werden sollen, nachdem NIPT als Kassenleistung in Deutschland eingeführt wurde.

Keywords

Combined first-trimester screening - contingent screening - cell-free fetal DNA - prenatal ultrasound - chromosome anomalies

Full Text

References

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