Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California.
Clin Obstet Gynecol. 2023 Sep 1;66(3):557-567. doi: 10.1097/GRF.0000000000000796. Epub 2023 Jul 17.
Cell-free DNA (cfDNA) screening has high detection for the common fetal autosomal aneuploidies, but is not diagnostic. The positive predictive value should be utilized in counseling after a positive cell-free DNA screen, and diagnostic testing should be offered for confirmation. cfDNA screening does not report a result in ~3% of cases; nonreportable results indicate an increased risk for aneuploidy and some adverse perinatal outcomes. False-positive cfDNA screening occurs due to confined placental mosaicism, maternal copy number variants, mosaicism, and cancer. Pretest education and counseling should be provided with emphasis on the potential benefits, risks, and limitations before cfDNA screening.
游离胎儿 DNA（cfDNA）筛查对常见的胎儿常染色体非整倍体具有较高的检出率，但不具有诊断意义。在 cfDNA 筛查阳性后，应利用阳性预测值进行咨询，并提供诊断性检测以明确结果。cfDNA 筛查约有 3%的病例无法报告结果；无法报告的结果提示非整倍体风险增加和一些不良围产结局风险增加。cfDNA 筛查假阳性的原因包括胎盘局限性嵌合体、母源染色体拷贝数变异、嵌合体和肿瘤。在进行 cfDNA 筛查之前，应提供检测前教育和咨询，重点介绍其潜在获益、风险和局限性。
