Mount Carmel Health System, and the Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; the Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas McGovern Medical School, Houston, Texas; and the Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California.
Obstet Gynecol. 2022 Jul 1;140(1):121-131. doi: 10.1097/AOG.0000000000004833. Epub 2022 Jun 7.
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.
游离 DNA 是一项不断发展的技术，在多种疾病的筛查、诊断和治疗中应用日益广泛。胎盘生理学和肿瘤发生的共同生理、遗传和表观遗传特征，已经引起临床医生和研究人员的关注。已经有报道称，母体恶性肿瘤是导致产前游离 DNA 筛查假阳性结果的原因。如果检测结果与胎儿诊断测试不一致，且存在多种非整倍体或单个常染色体单体性，则提示存在潜在的母体恶性肿瘤的可能性增加。目前，对于因游离 DNA 检测而怀疑患有恶性肿瘤的患者，尚无关于咨询和评估的共识指南。此外，实验室在报告政策、术语以及用于意外或偶然发现的报告策略和方法方面存在显著差异。因此，开具检测的临床医生有责任了解其选择的实验室的政策，以提供充分的检测前和检测后遗传咨询。在检测前咨询中，应解释可能存在偶然或意外发现或无法报告的结果的风险。对于异常、意外或无法报告的结果，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。医疗保健专业人员应解释进一步评估和管理的选择，包括推荐胎儿诊断检测。不同作者推荐的用于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、成本以及家庭和个人病史的需求。该领域的持续研究和多学科合作对于确定这种日益常见的筛查检测复杂结果的最佳管理实践至关重要。
