[Maternal Tumor Disease as a Reason for Repeated Test Failure in Cell-Free DNA Screening].

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). :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.

authors

Karge A,Graupner O,Abel K,Kuschel B

doi

10.1055/a-0850-0650

subject

Has Abstract

pub_date

2019-06-01 00:00:00

pages

179-183

issue

3

eissn

0948-2393

issn

1439-1651

journal_volume

223

pub_type

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