Ulph Fiona, Cullinan Tim, Qureshi Nadeem, Kai Joe
University of Manchester, Manchester, UK.
East Staffordshire Clinical Commissioning Group, Burton-on-Trent, UK.
Eur J Hum Genet. 2015 Apr;23(4):459-65. doi: 10.1038/ejhg.2014.126. Epub 2014 Jul 9.
Universal newborn screening for sickle cell disorders and cystic fibrosis aims to enable the early identification and treatment of affected babies. Screening can also identify infants who are healthy carriers, with carrier results being the commonest outcome for parents and professionals to discuss in practice. However it is unclear what the effect will be on parents on being informed of their baby's carrier result. Semi-structured face-to-face interviews were conducted with a purposeful sample of 67 family members (49 mothers, 16 fathers, 2 grandparents) of 51 infants identified by universal newborn screening as carriers of cystic fibrosis (n=27) and sickle cell (n=24), across all health regions in England. Data were analysed by thematic analysis with subsequent respondent validation. Untoward anxiety or distress among parents appeared influenced by how results were conveyed, rather than the carrier result per se. Parents who had more prior awareness of carrier status or the possibility of a carrier result assimilated the information more readily. Being left in an information vacuum while awaiting results, or before seeing a professional, led some parents to fear that their child had a serious health condition. Parental distress and anxiety appeared mostly transient, subsiding with understanding of carrier status and communication with a professional. Parents regarded carrier results as valuable information and sought to share this with their families and to inform their children in the future. However parents needed greater support after communication of results in considering and accessing cascade testing, and negotiating further communication within their families.
对镰状细胞病和囊性纤维化进行新生儿普遍筛查的目的是能够早期识别并治疗患病婴儿。筛查还能识别出健康的携带者婴儿，而携带者检测结果是家长和专业人员在实际中讨论最多的结果。然而，目前尚不清楚告知家长其婴儿的携带者检测结果会对他们产生何种影响。我们对通过新生儿普遍筛查确定为囊性纤维化携带者（n = 27）和镰状细胞携带者（n = 24）的51名婴儿的67名家庭成员（49名母亲、16名父亲、2名祖父母）进行了有目的抽样的半结构化面对面访谈，这些家庭分布在英格兰的所有健康区域。通过主题分析对数据进行了分析，并随后进行了受访者验证。家长的不良焦虑或困扰似乎受结果传达方式的影响，而非携带者检测结果本身。对携带者状态或携带者检测结果可能性有更多预先了解的家长更容易接受这些信息。在等待结果期间或见到专业人员之前处于信息真空状态，导致一些家长担心他们的孩子患有严重健康问题。家长的困扰和焦虑大多似乎是暂时的，随着对携带者状态的理解以及与专业人员的沟通而消退。家长认为携带者检测结果是有价值的信息，并希望与家人分享，且未来告知他们的孩子。然而，在得知检测结果后，家长在考虑和进行级联检测以及在家庭内部协商进一步沟通方面需要更多支持。
