Holtkamp Kim C A, Lakeman Phillis, Hader Hind, Jans Suze M J P, Hoenderdos Maria, Playfair Henna A M, Cornel Martina C, Peters Marjolein, Henneman Lidewij
Department of Clinical Genetics, Section Community Genetics, Amsterdam Public Health research institute, VU University Medical Center, PO Box 7057, 1007, MB, Amsterdam, The Netherlands.
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
J Genet Couns. 2018 Jun;27(3):635-646. doi: 10.1007/s10897-017-0159-7. Epub 2017 Oct 5.
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive an offer of HbP carrier screening by their midwife. Semi-structured interviews (n = 26) were conducted with pregnant women at risk of being a HbP carrier, and whom were offered screening at their booking appointment in one of two midwifery practices in Amsterdam. The results showed that half of the respondents were familiar with HbPs. Generally, women perceived the offer of HbP carrier screening as positive, and most women (n = 19) accepted screening. Seven declined, of whom two already knew their carrier status. Important reasons to accept screening were to obtain knowledge about their own carrier status and health of their unborn child, and the ease of the procedure. A multistep process of decision-making was observed, as many women did not give follow-up testing (e.g. partner, invasive diagnostics) much consideration while deciding on accepting or declining HbP screening. Women experienced information overload, and preferred receiving the information at a different moment (e.g. before the intake by a leaflet, or preconceptionally). In conclusion, while prenatal HbP carrier screening is perceived as positive, informed decision-making seems to be suboptimal, and both the content and timing of the information provided needs improvement.
血红蛋白病（HbP；镰状细胞病和地中海贫血）的携带者筛查旨在促进自主生殖决策。在荷兰没有全国性的HbP携带者筛查项目的情况下，一些初级护理助产士会临时提供筛查。这项定性描述性研究探讨了孕妇如何看待助产士提供的HbP携带者筛查。对有成为HbP携带者风险的孕妇进行了半结构化访谈（n = 26），这些孕妇在阿姆斯特丹的两家助产机构之一进行预约登记时被提供了筛查。结果显示，一半的受访者熟悉HbP。总体而言，女性认为提供HbP携带者筛查是积极的，大多数女性（n = 19）接受了筛查。7人拒绝了，其中2人已经知道自己的携带者状态。接受筛查的重要原因是了解自己的携带者状态和未出生孩子的健康状况，以及筛查过程的简便性。观察到一个多步骤的决策过程，因为许多女性在决定接受或拒绝HbP筛查时没有过多考虑后续检测（例如伴侣检测、侵入性诊断）。女性经历了信息过载，并且更喜欢在不同的时间接收信息（例如在初诊前通过传单，或在孕前）。总之，虽然产前HbP携带者筛查被认为是积极的，但知情决策似乎并不理想，所提供信息的内容和时机都需要改进。
