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Z Geburtshilfe Neonatol 2019; 223(03): 179-183
DOI: 10.1055/a-0850-0650
Kasuistik
© Georg Thieme Verlag KG Stuttgart · New York

Mütterliches Malignom in der Schwangerschaft als Ursache eines wiederholten Testversagens im nicht-invasiven Pränataltest

Maternal Tumor Disease as a Reason for Repeated Test Failure in Cell-Free DNA Screening
Anne Karge
1   Klinik und Poliklinik für Frauenheilkunde, Klinikum rechts der Isar, Technische Universität München, München
,
Oliver Graupner
1   Klinik und Poliklinik für Frauenheilkunde, Klinikum rechts der Isar, Technische Universität München, München
,
Kathrin Abel
1   Klinik und Poliklinik für Frauenheilkunde, Klinikum rechts der Isar, Technische Universität München, München
,
Bettina Kuschel
1   Klinik und Poliklinik für Frauenheilkunde, Klinikum rechts der Isar, Technische Universität München, München
› Author Affiliations
Further Information

Publication History

eingereicht 19 September 2018

angenommen nach 21 January 2019

Publication Date:
14 June 2019 (online)

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Zusammenfassung

Der nicht-invasive Pränataltest (NIPT) ist ein Screening-Test für fetale Chromosomenstörungen. Aktuelle Studien zeigen eine inzidentelle Detektion mütterlicher Malignome im Rahmen der NIPT-Diagnostik, wobei als NIPT-„Anomalie“ das simultane Vorliegen multipler Aneuploidien beschrieben wird. In diesem Fall konnte aufgrund eines wiederholten Testversagens („no call“) im NIPT die Diagnose einer maternalen Tumorerkrankung gestellt werden.

Abstract

Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosome disorders. Recent studies show an incidental detection of maternal malignancies in NIPT diagnostics, where the simultaneous presence of multiple aneuploidies is described as an NIPT “anomaly”. In this case, the diagnosis of a maternal tumor disease was made due to a repeat NIPT failure (no call).

Schlüsselwörter

Nicht-invasiver Pränataltest - Maternale Tumorerkrankung in der Schwangerschaft - Pränataldiagnostik

Key words

non invasive prenatal testing - Maternal tumor disease in pregnancy - prenatal diagnostics
 

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