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Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-06-01 , DOI: 10.1038/s41431-020-0648-2
Stephanie C M Nijmeijer 1 , Thirsa Conijn 1, 2 , Phillis Lakeman 3 , Lidewij Henneman 4 , Frits A Wijburg 1 , Lotte Haverman 2
Affiliation  

Preconception expanded carrier screening (ECS) aims to detect carrier couples of autosomal recessive (AR) disorders before pregnancy in order to increase reproductive autonomy of prospective parents. Genetic knowledge and knowledge gained from experience influence decision making on participation in genetic testing and understanding carrier test results. In this study we assessed whether parents and relatives of patients with the severe AR condition mucopolysaccharidosis type III (MPS III), who are expected to have genetic and experiential knowledge, have more positive attitudes toward ECS than the Dutch reference group. Parents of all MPS III patients known to the Dutch expert center were invited to participate and asked to invite first and second degree relatives. The online questionnaire started with an educational text, and assessed attitudes toward ECS, genetic knowledge and perceived MPS III severity. Results were compared with the Dutch population. Parents and relatives of MPS III patients (n = 159) scored higher on the genetic knowledge test and perceived MPS III as more severe compared with the general Dutch population (n = 781). Parents and relatives reported to be more likely to participate in ECS (84.3% and 62.5%, respectively) compared with the public (31%) (p < 0.001). Being a relative of a MPS III patient was the strongest variable in the regression analyses for intended ECS participation. Our results show that genetic knowledge influences ECS decision making. Therefore, appropriate information on ECS and genetic counseling is needed to enable prospective parents from the general population, including relatives of patients with severe hereditary disorders, to make informed decisions.



中文翻译:

III型粘多糖贮积病患者亲属对孕前的态度扩大了携带者的筛查。

孕前扩展携带者筛查(ECS)旨在在怀孕前检测常染色体隐性遗传(AR)疾病的携带者夫妇,以增加准父母的生殖自主能力。遗传知识和从经验中获得的知识会影响参与基因测试和了解载体测试结果的决策。在这项研究中,我们评估了患有重度AR病征的III型粘多糖贮积症(MPS III)患者的父母和亲属是否比荷兰参考人群对ECS的态度更为积极,这些患者具有遗传和经验知识。荷兰专家中心已知的所有MPS III患者的父母被邀请参加,并被邀请邀请一级和二级学位的亲戚。在线问卷以教育文字开头,并评估了对ECS,遗传知识和MPS III严重程度的态度。将结果与荷兰人口进行比较。MPS III患者的父母和亲属(n  = 159)在遗传知识测试中得分较高,并且认为MPS III与荷兰普通人群相比更为严重(n  = 781)。与公众(31%)相比,父母和亲戚报告参加ECS的可能性更高(分别为84.3%和62.5%)(p  <0.001)。在预期的ECS参与度的回归分析中,作为MPS III患者的亲戚是最大的变量。我们的结果表明,遗传知识会影响ECS决策。因此,需要有关ECS和遗传咨询的适当信息,以使普通人群中的准父母(包括患有严重遗传性疾病患者的亲属)能够做出明智的决定。

更新日期:2020-06-01
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