Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, and the Department of Internal Medicine, Division of Hematology/Oncology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Obstet Gynecol. 2018 Mar;131(3):464-468. doi: 10.1097/AOG.0000000000002474.
Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy. The risk of maternal cancer is significantly elevated when more than one aneuploidy is detected that is discordant from fetal karyotype. Given this risk as well as the rising incidence of cancer in pregnancy, patient counseling and malignancy evaluation should be considered in women when more than one aneuploidy is detected. We reviewed the published literature and developed an algorithm to evaluate women when these results are identified.
胎儿非整倍体的游离 DNA 筛查是一种常用于高风险胎儿非整倍体妊娠的检测策略。游离 DNA 筛查的应用正在扩展到低风险人群，因为其对 21 三体的检出率超过了传统的筛查方法。虽然游离 DNA 的敏感性和特异性优于传统筛查，但也会出现假阳性结果，这可能表明母体存在不良健康状况，包括母体嵌合体或罕见的恶性肿瘤。当检测到与胎儿核型不一致的多个非整倍体时，母体患癌的风险会显著升高。鉴于这种风险以及妊娠期间癌症发病率的上升，当检测到多个非整倍体时，应该考虑对女性进行患者咨询和恶性肿瘤评估。我们回顾了已发表的文献，并制定了一个算法，以评估出现这些结果时的女性。
