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影响佛兰德斯(比利时)非妊娠育龄期妇女接受生殖遗传携带者筛查的因素。

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).

机构信息

Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

出版信息

J Genet Couns. 2022 Oct;31(5):1043-1053. doi: 10.1002/jgc4.1575. Epub 2022 Apr 6.

DOI:10.1002/jgc4.1575
PMID:35385167
Abstract

Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X-linked monogenic condition. Multiple studies have reported on a wide and fragmented set of reasons to accept or decline RGCS. Only a few studies have been performed to assess the uptake of RGCS. Nonpregnant women visiting their gynecologist were invited to complete a questionnaire assessing perceived susceptibility, the acceptability of offering RGCS, attitudes, the intention to participate in RGCS, reasons to accept or decline RGCS, and sociodemographic characteristics. Women who showed the intention to have RGCS were asked to consider a free RGCS offer. Most women (n = 127) were between 25 and 34 years old (60%), in a relationship (91%), and wanted to have children (65%). Study participants had positive attitudes towards RGCS and the intention to consider RGCS in the future. Reasons to accept RGCS were being able to share genetic information with children or relatives (n = 104/127, 82%), to prevent the birth of a child affected with a hereditary condition (n = 103/127, 81%), and/or to know the chance of conceiving a child with a hereditary condition (n = 102/127, 80%). Reasons for declining RGCS were the possible concerns that could arise when receiving test results (n = 27/127, 21%), having no family history of hereditary disorders (n = 19/127, 15%), and not wanting to take action based on test results (n = 13/127, 10%). Among test intenders that met the inclusion criteria, 53% decided to participate in RGCS together with their male reproductive partner. More in-depth research on the decision-making process behind the choice to accept or decline an RGCS offer would be highly valuable to make sure couples are making informed reproductive choices.

摘要

生殖遗传携带者筛查 (RGCS) 可识别出夫妇生育患有常染色体隐性或 X 连锁单基因疾病孩子的可能性增加。多项研究报告了广泛而零碎的接受或拒绝 RGCS 的原因。只有少数研究评估了 RGCS 的接受程度。前来就诊的非孕妇被邀请填写一份问卷,评估她们对自身易感性的认知、对提供 RGCS 的可接受性、态度、参与 RGCS 的意愿、接受或拒绝 RGCS 的原因以及社会人口学特征。表现出接受 RGCS 意愿的女性被要求考虑接受免费 RGCS。大多数女性(n=127)年龄在 25-34 岁之间(60%),处于恋爱关系中(91%),并希望生育孩子(65%)。研究参与者对 RGCS 持积极态度,并有意在未来考虑接受 RGCS。接受 RGCS 的原因包括能够与孩子或亲属分享遗传信息(n=104/127,82%)、预防生育患有遗传性疾病的孩子(n=103/127,81%)和/或了解生育患有遗传性疾病孩子的机会(n=102/127,80%)。拒绝 RGCS 的原因包括可能在收到测试结果时出现的担忧(n=27/127,21%)、没有遗传性疾病的家族史(n=19/127,15%)以及不想根据测试结果采取行动(n=13/127,10%)。在符合纳入标准的意向测试者中,53%的人决定与男性生育伴侣一起接受 RGCS。对接受或拒绝 RGCS 提供的决策过程进行更深入的研究,对于确保夫妇做出明智的生殖选择将非常有价值。

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引用本文的文献

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Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.探讨寻求医学辅助生殖的夫妇对生殖遗传携带者筛查的态度和经验:一项纵向调查研究。
J Assist Reprod Genet. 2024 Feb;41(2):451-464. doi: 10.1007/s10815-023-03010-8. Epub 2024 Jan 4.
2
Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.多层面的障碍和促进因素阻碍了美国广泛使用孕前携带者筛查。
Genet Med. 2023 Dec;25(12):100946. doi: 10.1016/j.gim.2023.100946. Epub 2023 Jul 30.
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Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.
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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.一项针对伴有孟德尔疾病的家族中的二级发现的西班牙研究:选择、患病率和家族史。
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