Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
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III型粘二糖的亲属对孕入疗法筛查的态度。
DOI：
10.1038/s41431-020-0648-2
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发表时间：
2020-10
期刊：
影响因子：
--
通讯作者：
Haverman L
中科院分区：
文献类型：
--
作者：
Nijmeijer SCM;Conijn T;Lakeman P;Henneman L;Wijburg FA;Haverman L
孕前扩大携带者筛查（ECS）旨在孕前发现常染色体隐性遗传（AR）疾病的携带者夫妇，以增加未来父母的生育自主权。遗传知识和从经验中获得的知识影响参与基因检测和理解携带者检测结果的决策。在这项研究中，我们评估了重度AR条件粘多糖样沉积症III型（MPS III）患者的父母和亲属，谁预计有遗传和经验的知识，有更积极的态度ECS比荷兰参考组。荷兰专家中心已知的所有MPS III患者的父母都被邀请参加，并要求邀请一级和二级亲属。在线问卷以教育文本开始，并评估了对ECS的态度，遗传知识和感知的MPS III严重程度。结果与荷兰人口进行了比较。与荷兰普通人群（n = 781）相比，MPS III患者（n = 159）的父母和亲属在遗传知识测试中得分更高，并且认为MPS III更严重。父母和亲属报告更有可能参与ECS（分别为84.3%和62.5%）与公众（31%）相比（p < 0.001）。作为MPS III患者的亲属是预期参与ECS的回归分析中最强的变量。我们的研究结果表明，遗传知识影响ECS决策。因此，需要适当的信息ECS和遗传咨询，使未来的父母从一般人群，包括严重遗传性疾病患者的亲属，作出明智的决定。
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.
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DOI：
10.1038/ejhg.2016.43
发表时间：
2016-10
期刊：
European journal of human genetics : EJHG
影响因子：
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作者：
通讯作者：
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DOI：
10.1089/gte.2007.0057
发表时间：
2008-03-01
期刊：
GENETIC TESTING
影响因子：
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作者：
Etchegary, Holly;Potter, Beth;Wilson, Brenda
通讯作者：
Wilson, Brenda
DOI：
10.1089/gte.2004.8.80
发表时间：
2004-06-01
期刊：
GENETIC TESTING
影响因子：
--
作者：
Poppelaars, FAM;Henneman, L;Ten Kate, LP
通讯作者：
Ten Kate, LP
影响因子：
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作者：
Conijn, Thirsa;Nijmeijer, Stephanie C M;Haverman, Lotte
通讯作者：
Haverman, Lotte
DOI：
10.1038/ejhg.2015.271
发表时间：
2016-06
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Henneman L;Borry P;Chokoshvili D;Cornel MC;van El CG;Forzano F;Hall A;Howard HC;Janssens S;Kayserili H;Lakeman P;Lucassen A;Metcalfe SA;Vidmar L;de Wert G;Dondorp WJ;Peterlin B
通讯作者：
Peterlin B