Micheletto Marcos Ricardo Datti, Valerio Nelson Iguimar, Fett-Conte Agnes Cristina
Psychology Service, Medicine School of São José do Rio Preto (FAMERP-FUNFARME), São Paulo, Brazil,
J Genet Couns. 2013 Dec;22(6):784-94. doi: 10.1007/s10897-013-9619-x. Epub 2013 Jun 23.
Down syndrome occurs in approximately 1:600 live births. Genetic counseling is indicated for these families and may be beneficial for adaptation to the challenges that accompany by this diagnosis. Although the basic counseling goals are similar, there are many models of genetic counseling practiced around the world. The aim of this article is to report the results of a pilot study that evaluated the level of satisfaction with a model of service delivery of genetic counseling practiced in Brazil, the knowledge assimilated about Down syndrome and whether this process resulted in a feeling of well-being and psychological support. Thirty mothers of under 6-month-old children with Down syndrome were interviewed after having two sessions of genetic counseling in a public healthcare service within a period of 30 days. A semi-structured questionnaire was developed by the researchers to collect identification, socioeconomic and demographic data and to assess the client's satisfaction with the model of genetic counseling. Data were collected using both open and closed questions. The reported level of satisfaction was high. The knowledge assimilated about Down syndrome after only two sessions was considered technically vague by raters in 44 % of cases. Most mothers (96.7 %) reported that genetic counseling was beneficial and provided psychological support. The model was considered satisfactory, but further research is needed to identify ways to improve knowledge retention by this population. These results highlight the utility of referring families for genetic counseling when there is a suspicion of a diagnosis of Down syndrome.
唐氏综合征的发生率约为1:600活产儿。应为这些家庭提供遗传咨询，这可能有助于他们应对这一诊断带来的挑战。尽管基本的咨询目标相似，但世界各地实施着许多遗传咨询模式。本文的目的是报告一项试点研究的结果，该研究评估了对巴西实施的一种遗传咨询服务模式的满意度、对唐氏综合征的了解程度，以及这一过程是否带来了幸福感和心理支持。30名患有唐氏综合征且孩子年龄在6个月以下的母亲在30天内在公共医疗服务机构接受了两次遗传咨询后接受了访谈。研究人员设计了一份半结构化问卷，以收集身份信息、社会经济和人口数据，并评估客户对遗传咨询模式的满意度。数据收集采用开放式和封闭式问题。报告的满意度较高。在44%的案例中，评估人员认为仅经过两次咨询后对唐氏综合征的了解在技术上含糊不清。大多数母亲（96.7%）报告称遗传咨询有益且提供了心理支持。该模式被认为是令人满意的，但需要进一步研究以确定提高这一人群知识保留率的方法。这些结果凸显了在怀疑患有唐氏综合征诊断时为家庭提供遗传咨询的效用。
