Department of Pathology and Laboratory Medicine, Women &Infants Hospital, Providence, Rhode Island, USA.
Department of Pathology and Laboratory Medicine, Alpert School of Medicine at Brown University, Providence, Rhode Island, USA.
Genet Med. 2017 Jul;19(7):778-786. doi: 10.1038/gim.2016.194. Epub 2017 Jan 12.
To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population.
Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment.
Between September 2014 and July 2015, 72 providers screened 2,691 women. The five largest participating practices increased uptake by 8 to 40%. Among 2,681 reports, 16 women (0.6%) were screen-positive for trisomy 21, 18, or 13; all saw genetic professionals. Twelve were confirmed (positive predictive value (PPV), 75%; 95% CI, 48-93%) and four were false-positives (0.15%). Of 150 failures (5.6%), 79% had a negative serum or subsequent cfDNA test; no aneuploidies were identified. Of 100 women surveyed, 99 understood that testing was optional, 96 had their questions answered, and 95 received sufficient information. Pretest information was provided by the physician/certified nurse midwife (55) or office nurse/educator (40); none was provided by genetic professionals.
This first clinical utility study of cfDNA screening found higher uptake rates, patient understanding of basic concepts, and easy incorporation into routine obstetrical practices. There were no reported cases of aneuploidy among cfDNA test failures.Genet Med advance online publication 12 January 2017.
评估通过初级产科保健提供者向一般妊娠人群提供的基于游离胎儿 DNA（cfDNA）的非整倍体筛查的临床实用性。
制定并验证了患者教育材料，并对提供者进行了培训。采集血清以对 cfDNA 检测失败进行反射性检测。就知识、决策和满意度对提供者和患者进行了调查。通过主动或被动确认来确定妊娠结局。
2014 年 9 月至 2015 年 7 月期间，72 名提供者筛查了 2691 名女性。五个最大的参与实践提高了 8 至 40%的参与率。在 2681 份报告中，有 16 名女性（0.6%）的 21、18 或 13 三体综合征筛查呈阳性；所有患者均接受了遗传专业人员的检查。12 例得到确认（阳性预测值（PPV）为 75%；95%CI，48-93%），4 例为假阳性（0.15%）。在 150 次检测失败（5.6%）中，79%的患者血清或随后的 cfDNA 检测呈阴性；未发现非整倍体。在接受调查的 100 名女性中，99%的人了解到检测是可选的，96%的人得到了回答，95%的人获得了足够的信息。检测前信息由医生/认证的注册护士助产士（55 人）或办公室护士/教育者（40 人）提供；没有遗传专业人员提供。
这是首次关于 cfDNA 筛查的临床实用性研究，发现接受率更高，患者对基本概念的理解能力更强，且容易将其纳入常规产科实践。在 cfDNA 检测失败中未报告非整倍体病例。
Genet Med 在线发表 2017 年 1 月 12 日
