State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu Province, 210004, China.
Prenat Diagn. 2018 Sep;38(10):755-764. doi: 10.1002/pd.5328. Epub 2018 Jul 27.
Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology.
A total of 32 431 cases were retrospectively reviewed. The screening was performed using a BGI protocol, and the cfDNA results were analyzed together with the pregnancy outcomes, confirmatory testing results, and ultrasound findings.
Of the 32 431 cfDNA screening cases, successful follow-up was conducted in 287 (82.2%) cases with high-risk cfDNA results, 85 (94.4%) cases with copy number variation (CNV) and rare autosomal trisomy (RAT) results, and 26 060 (81.5%) cases with low-risk cfDNA results. Among them, 234 with high-risk cfDNA results chose invasive testing, revealing 169 true positive cases. In cases with CNV and RAT results, 45 cases underwent invasive diagnosis, revealing six pathogenic CNVs and three uniparental disomies. In cases with low-risk cfDNA results, three false negative cases were confirmed.
Cell-free DNA screening appears to be effective in detecting the common autosomal aneuploidies, but one-third of our cohort with high-risk results rejected confirmatory testing. Our data provide information on the clinical experience of large-scale whole-genome cfDNA screening that has global relevance for the implementation of this technology.
游离 DNA（cfDNA）非整倍体筛查于 2011 年在临床上推出。我们旨在关注单个三级中心进行全基因组 cfDNA 筛查的随访信息，以评估该技术。
共回顾性分析了 32431 例病例。采用 BGI 方案进行筛查，cfDNA 结果与妊娠结局、确认性检测结果和超声检查结果一起进行分析。
在 32431 例 cfDNA 筛查病例中，对 287 例（82.2%）cfDNA 高风险结果、85 例（94.4%）拷贝数变异（CNV）和罕见常染色体三体（RAT）结果、26060 例（81.5%）cfDNA 低风险结果进行了成功随访。其中，234 例 cfDNA 高风险结果选择了侵袭性检测，发现 169 例真阳性病例。在 CNV 和 RAT 结果的病例中，45 例进行了侵袭性诊断，发现 6 例致病性 CNV 和 3 例单亲二体。在 cfDNA 低风险结果的病例中，有 3 例假阴性病例得到了确认。
cfDNA 筛查似乎能有效检测常见的常染色体非整倍体，但我们三分之一的高风险结果病例拒绝了确认性检测。我们的数据提供了关于大规模全基因组 cfDNA 筛查的临床经验信息，这对该技术的实施具有全球相关性。
