Awareness of paternal age effect disorders among Japanese pregnant women: implications for prenatal genetic counseling for advanced paternal age
Awareness of paternal age effect disorders among Japanese pregnant women: implications for prenatal genetic counseling for advanced paternal age
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日本孕妇对父亲年龄效应障碍的认识：对高龄父亲产前遗传咨询的影响
DOI：
10.1007/s12687-021-00555-y
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发表时间：
2021
影响因子：
1.9
通讯作者：
H.
中科院分区：
文献类型：
--
作者：
Nishiyama;M.;Ogawa;K.;Hasegawa;F.;Sasaki;A.;Akaishi;R.;Wada;S.;& Sago;H.
父亲高龄（阿帕）的增加反映了母亲年龄的上升。阿帕与新发致病性单核苷酸变异的风险增加有关，但这一主题的讨论频率远低于高龄产妇（AMA）。为探讨孕妇对父亲年龄效应（PAE）障碍的认识，对妊娠17周前首次产前访视的孕妇进行了自填式问卷调查。共有120名有效受访者（95.2%）被纳入分析。其中，63.3%的孕妇知道PAE疾病。这明显低于90.8%的母亲年龄效应（MAE）疾病的识别率。三分之一知晓MAE疾病的女性未知晓PAE疾病。经产、年龄大于其男性伴侣、在本次妊娠前了解产前检查以及在既往妊娠中有产前检查经验的孕妇比其他孕妇更了解PAE疾病。知晓PAE疾病与本次妊娠期间接受产前检查无关。我们的研究结果表明，孕妇的患病率的PAE疾病的认识低于MAE疾病。目前的研究作为一个初步的基线信息孕妇的意识PAE疾病。随着非侵入性产前检测的引入，它有可能识别PAE疾病，这些发现将有助于制定一个框架，为阿帕妊娠提供全面的产前遗传咨询。
The increasing prevalence of advanced paternal age (APA) has mirrored the rise in maternal age. APA is associated with an increased risk of de novo pathogenic single-nucleotide variants, but this topic has been much less frequently discussed than advanced maternal age (AMA). To explore the awareness of pregnant women regarding paternal age effect (PAE) disorders, a self-administered questionnaire survey was conducted for pregnant women at their first prenatal visit before 17 weeks of gestation. A total of 120 valid respondents (95.2%) were included in the analyses. Of these, 63.3% of pregnant women were aware of PAE disorders. This was markedly lower than the 90.8% recognition of maternal age effect (MAE) disorders. One-third of women with awareness of MAE disorders were not aware of PAE disorders. Pregnant women who were parous, older than their male partners, with knowledge of prenatal testing prior to this pregnancy, and with experience of prenatal testing in a prior pregnancy were significantly more aware of PAE disorders than others. Awareness of PAE disorders was not associated with undergoing prenatal testing during the present pregnancy. Our results show that the prevalence of pregnant women’s awareness of PAE disorders was lower than that of MAE disorders. The current study served as a preliminary baseline of information about pregnant women’s awareness of PAE disorders. With the introduction of non-invasive prenatal testing, which has the potential to identify PAE disorders, these findings will help the development of a framework for comprehensive prenatal genetic counseling for APA pregnancies.
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制定自填问卷来衡量妇女对产前筛查和诊断测试的了解。
影响因子：
4.7
作者：
Theresa M. Marteau;M. Johnston;Marianna Plenicar;R. Shaw;J. Slack
通讯作者：
J. Slack
DOI：
10.1097/gim.0b013e318176fabb
发表时间：
2008-06
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Toriello HV;Meck JM;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
影响因子：
7.1
作者：
Dahl, K.;Hvidman, L.;Kesmodel, U. S.
通讯作者：
Kesmodel, U. S.
DOI：
10.1038/ejhg.2015.207
发表时间：
2016-06
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Lewis C;Hill M;Skirton H;Chitty LS
通讯作者：
Chitty LS
影响因子：
11.9
作者：
Usuda, Kentaro;Nishi, Daisuke;Sano, Yo
通讯作者：
Sano, Yo