PDF(Pubmed)
Abstract：
It is now well-established that non-invasive prenatal testing (NIPT), originally designed to screen cell-free DNA (cfDNA) in maternal blood for the presence of common fetal trisomies, can lead to incidental detection of occult maternal malignancies. Retrospective evaluations have demonstrated that the detection of multiple copy number alterations in cfDNA is particularly suggestive of an incipient tumor and that cancer detection rates not only depend on tumor biology but also on applied NIPT technologies and downstream diagnostic investigations. Since the identification of a maternal cancer in pregnancy has implications for both woman and the unborn child, prospective studies are needed to provide evidence on best clinical practices and on clinical utility in terms of patient outcomes.
摘要：
现在公认的非侵入性产前检测（NIPT），最初设计用于筛查母体血液中的无细胞DNA（cfDNA）是否存在常见的胎儿三体，可能导致偶然发现隐匿性母体恶性肿瘤。回顾性评估已经证明,cfDNA中的多拷贝数改变的检测特别提示初期肿瘤,并且癌症检测率不仅取决于肿瘤生物学,而且取决于应用的NIPT技术和下游诊断研究。由于在怀孕期间确定母体癌症对妇女和未出生的孩子都有影响，需要前瞻性研究来提供最佳临床实践和患者预后方面的临床效用的证据.
