Saes Lotte, Govaerts Lutgarde C P, Knapen Maarten F C M, Lugtenburg Pieternella J, Boere Ingrid A, Galjaard Robert-Jan H
Erasmus MC, Kanker Instituut, Rotterdam.
Contact: L. Saes (
Ned Tijdschr Geneeskd. 2019 Jan 24;163:D2779.
Since 2017, the non-invasive prenatal test (NIPT) has been offered to all pregnant woman in the Netherlands in the context of the TRIDENT-2 study, which has been implemented as a trial within the Dutch national screening programme for Down's, Edwards' and Patau's syndrome. The NIPT examines cell-free DNA in maternal blood. A small proportion of this DNA is of placental origin, but a vast proportion originates from the expectant mother. Findings other than the aforementioned syndromes are considered incidental. Occasionally, maternal malignancy is suspected in asymptomatic women as a result of aberrant NIPT results. In this case series, we present three patients with suspected malignancy based on NIPT results. We recommend the implementation of clinical guidelines for when this situation arises.
自2017年以来,在荷兰的TRIDENT-2研究中,无创产前检测(NIPT)已提供给所有孕妇,该研究作为荷兰全国唐氏综合征、爱德华兹综合征和帕陶氏综合征筛查项目中的一项试验实施。NIPT检测孕妇血液中的游离DNA。其中一小部分DNA来自胎盘,但绝大部分来自准妈妈。除上述综合征外的其他检测结果被视为偶然发现。偶尔,由于NIPT结果异常,无症状女性会被怀疑患有母体恶性肿瘤。在本病例系列中,我们介绍了三名基于NIPT结果怀疑患有恶性肿瘤的患者。我们建议在出现这种情况时实施临床指南。