Yi Huso, Hallowell Nina, Griffiths Sian, Yeung Leung Tak
Health Ethics and Medical Humanities Unit, Centre for Global Health, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
PLoS One. 2013 Nov 27;8(11):e81794. doi: 10.1371/journal.pone.0081794. eCollection 2013.
A newly introduced cell-free fetal DNA sequencing based non-invasive prenatal testing (DNA-NIPT) detects Down syndrome with sensitivity of 99% at early gestational stage without risk of miscarriage. Attention has been given to its public health implications; little is known from consumer perspectives. This qualitative study aimed to explore women's motivations for using, and perceptions of, DNA-NIPT in Hong Kong.
In-depth interviews were conducted with 45 women who had undertaken DNA-NIPT recruited by purposive sampling based on socio-demographic and clinical characteristics. The sample included 31 women identified as high-risk from serum and ultrasound based Down syndrome screening (SU-DSS). Thematic narrative analysis examined informed-decision making of the test and identified the benefits and needs. Women outlined a number of reasons for accessing DNA-NIPT: reducing the uncertainty associated with risk probability-based results from SU-DSS, undertaking DNA-NIPT as a comprehensive measure to counteract risk from childbearing especially at advanced age, perceived predictive accuracy and absence of risk of harm to fetus. Accounts of women deemed high-risk or not high-risk are distinctive in a number of respects. High-risk women accessed DNA-NIPT to get a clearer idea of their risk. This group perceived SU-DSS as an unnecessary and confusing procedure because of its varying, protocol-dependent detection rates. Those women not deemed high-risk, in contrast, undertook DNA-NIPT for psychological assurance and to reduce anxiety even after receiving the negative result from SU-DSS.
DNA-NIPT was regarded positively by women who chose this method of screening over the routine, less expensive testing options. Given its perceived utility, health providers need to consider whether DNA-NIPT should be offered as part of universal routine care to women at high-risk for fetal aneuploidy. If this is the case, then further development of guidelines and quality assurance will be needed to provide a service suited to patients' needs.
一种新推出的基于游离胎儿DNA测序的无创产前检测（DNA-NIPT）在孕早期检测唐氏综合征的灵敏度为99%，且无流产风险。人们已关注到其对公共卫生的影响；但从消费者角度了解甚少。这项定性研究旨在探讨香港女性使用DNA-NIPT的动机及其看法。
对45名接受过DNA-NIPT的女性进行了深入访谈，这些女性是根据社会人口统计学和临床特征通过目的抽样招募的。样本包括31名经血清学和超声唐氏综合征筛查（SU-DSS）确定为高危的女性。主题叙事分析考察了该检测的知情决策过程，并确定了其益处和需求。女性们列出了进行DNA-NIPT的一些原因：减少与SU-DSS基于风险概率的结果相关的不确定性，将DNA-NIPT作为应对生育风险的综合措施，尤其是高龄生育时，认为其预测准确性高且对胎儿无伤害风险。高危或非高危女性的描述在多个方面存在差异。高危女性进行DNA-NIPT以更清楚地了解自身风险。由于SU-DSS的检测率因方案而异，该组女性认为SU-DSS是不必要且令人困惑的程序。相比之下，那些未被视为高危的女性，即使在SU-DSS检测结果为阴性后，仍进行DNA-NIPT以获得心理安慰并减轻焦虑。
选择这种筛查方法而非常规、成本较低检测选项的女性对DNA-NIPT评价积极。鉴于其被认为的效用，医疗服务提供者需要考虑是否应将DNA-NIPT作为胎儿非整倍体高危女性普遍常规护理的一部分提供。如果是这样，那么需要进一步制定指南和质量保证措施，以提供符合患者需求的服务。
