Cell-free DNA is an advancing technology with increasing applications in screening, diagnosis, and treatment for several disease processes. The shared physiologic, genetic, and epigenetic characteristics of placental physiology and tumor development have become apparent to both clinicians and researchers. Maternal malignancy has been reported as a cause of false-positive prenatal cell-free DNA screening results. The detection of multiple aneuploidies or a single autosomal monosomy increases the chance for an underlying maternal malignancy when the result is discordant with fetal diagnostic testing. There is currently no consensus guideline on counseling and evaluation of patients with concern for malignancy from cell-free DNA testing. Furthermore, laboratories differ significantly in reporting policies, terminology, and in reporting strategies and methods used for unexpected or incidental findings. The ordering practitioner is therefore tasked to understand the policies of their laboratory of choice to provide adequate pretest and posttest genetic counseling. In pretest counseling, the potential for incidental or unexpected findings or nonreportable results should be explained. With an abnormal, unanticipated, or nonreportable result, posttest counseling should include a description of possible fetal or maternal diagnoses, including malignancy. Health care professionals should explain options for further evaluation and management, including a recommendation for fetal diagnostic testing. The medical workup recommended by various authors to evaluate cancer risk is based on consensus, experience, and expert opinion. These strategies should incorporate the patient's desire for information, cost, and family and personal medical history. Ongoing research and multi-disciplinary collaboration in this area is critical to identify best practices in management of complex results from this increasingly common screening test.

中文翻译：

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通过胎儿无细胞 DNA 筛查偶然检测到母体恶性肿瘤。

无细胞 DNA 是一项先进的技术，在多种疾病过程的筛查、诊断和治疗中应用越来越多。对于临床医生和研究人员来说，胎盘生理学和肿瘤发展的共同生理、遗传和表观遗传特征已经变得显而易见。据报道，母体恶性肿瘤是产前无细胞 DNA 筛查结果假阳性的一个原因。当结果与胎儿诊断测试不一致时，多个非整倍体或单个常染色体单体的检测会增加潜在母体恶性肿瘤的机会。目前还没有关于通过无细胞 DNA 检测对关注恶性肿瘤的患者进行咨询和评估的共识指南。此外，实验室在报告政策、术语、以及报告用于意外或偶然发现的策略和方法。因此，订购从业者的任务是了解他们选择的实验室的政策，以提供足够的测试前和测试后遗传咨询。在测试前咨询中，应解释偶然或意外发现或不可报告结果的可能性。对于异常、意外或不可报告的结果，检测后咨询应包括对可能的胎儿或母体诊断的描述，包括恶性肿瘤。卫生保健专业人员应解释进一步评估和管理的选择，包括胎儿诊断测试的建议。多位作者推荐的评估癌症风险的医学检查是基于共识、经验和专家意见。这些策略应结合患者对信息、费用以及家庭和个人病史的渴望。该领域正在进行的研究和多学科合作对于确定管理这一日益普遍的筛查测试的复杂结果的最佳实践至关重要。