Agatisa Patricia K, Mercer Mary Beth, Coleridge Marissa, Farrell Ruth M
Obstetrics, Gynecology and Women's Health Institute, Cleveland Clinic, 9500 Euclid Avenue, A81, Cleveland, OH, 44195, USA.
Office of Patient Experience, Cleveland Clinic, Cleveland, OH, USA.
J Genet Couns. 2018 Dec;27(6):1374-1385. doi: 10.1007/s10897-018-0268-y. Epub 2018 Jun 27.
The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.
无细胞胎儿DNA（cfDNA）筛查范围扩大至更多种类的基因变异，且除了在低风险产科人群中使用外，这给所有参与产前护理的医疗服务提供者带来了重大临床挑战。目前尚不清楚如何利用医疗团队的不同成员来应对这些挑战。我们对25名产前遗传咨询师进行了访谈，以了解他们对cfDNA筛查持续扩大的经验。参与者支持使用cfDNA筛查常见的常染色体非整倍体，但对其用于确定胎儿性别和微缺失表示有所保留。参与者报告了在确保患者获得信息和支持以就使用cfDNA筛查这些不同情况做出明智决策方面存在的几个障碍。这被视为一个双面问题，需要额外的教育干预措施，既要针对寻求cfDNA筛查的患者，也要针对向患者介绍基因风险和cfDNA概念的产科医生。此外，参与者指出，他们有专业责任向产科医生介绍cfDNA，以便他们能够准备好成为针对普通产科人群使用这种筛查选项的咨询和教育的把关人。
