reproductive choices

生殖选择
  • 文章类型: Journal Article
    血友病A是一种罕见的出血性疾病,具有可变的表达和等位基因异质性。尽管产前诊断和分子研究取得了进展,审查血友病A携带者和受影响个体的生殖选择的研究数量仍然有限.通过这次回顾性回顾,我们希望能更深入地了解受血友病影响的个体的临床和分子特征,以及高危夫妇的生殖选择。这项研究包括来自2000年3月至2023年3月3日期间参加三个中心的64个明显无关的家庭的122个个体,这些个体具有可能的致病性F8基因改变。他们的临床和分子发现以及生殖选择是在临床环境中收集的,并通过公共卫生系统的电子病历数据库进行了验证。分析中包括47名受影响的雄性和75名雌性杂合携带者。在64个明显无关的家庭中,确定了36种不同的致病/可能的致病变体,其中30.6%(11/36)的变异体是新的。虽然大多数临床发现和基因型-表型相关性似乎与现有文献一致,与有生育意向的女性携带者相比,没有生育意向的女性携带者患儿子的可能性要高得多(5/19vs.4/5;p=0.047)。通过这次回顾性回顾,我们总结了122例携带致病性/可能致病性F8变异的个体的临床和分子特征,以及他们的生育意愿和生育结果。需要进一步研究以研究生殖决策中涉及的考虑因素。
    Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular studies, the number of studies reviewing the reproductive choices of hemophilia A carriers and affected individuals remains limited. Through this retrospective review, we hope to gain a deeper understanding of hemophilia A-affected individuals\' clinical and molecular characteristics, as well as the reproductive choices of the at-risk couples. A total of 122 individuals harboring likely causative F8 gene alterations from 64 apparently unrelated families attending three centers between 3/2000 and 3/2023 were included in this study. Their clinical and molecular findings as well as reproductive choices were gathered in a clinical setting and verified through the electronic medical record database of the public health system. Forty-seven affected males and 75 female heterozygous carriers were included in the analysis. Among 64 apparently unrelated families, 36 distinct pathogenic/likely pathogenic variants were identified, of which 30.6% (11/36) of variants were novel. While the majority of clinical findings and genotype-phenotype correlations appear to be in accordance with existing literature, female carriers who had no fertility intention were significantly more likely to have affected sons than those who had fertility intention (5/19 vs. 4/5; p = 0.047). Through this retrospective review, we summarized the clinical and molecular characteristics of 122 individuals harboring pathogenic/likely pathogenic F8 variants, as well as their fertility intentions and reproductive outcomes. Further studies are required to look into the considerations involved in reproductive decision-making.
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  • 文章类型: Journal Article
    这篇综述文章深入探讨了延迟生育的复杂景观,阐明影响个人推迟生育决定的因素。在一个快速社交的世界里,经济,和技术改造,何时以及为什么成为父母的概念已经发生了重大变化。我们探索历史趋势,社会规范,心理动力学,政策影响,以及延迟生育的前景。这篇综述强调了塑造这一趋势的不同影响,从经济考虑和不断变化的文化观点到生殖技术的进步以及工作与生活平衡的复杂性。通过检查情绪维度和长期后果,我们全面理解对个人的影响,家庭,和社会。正如我们总结的那样,我们强调应对挑战和抓住机会的重要性,为那些掌握与延迟生育有关的复杂决定的人创造一个支持性环境。
    This review article delves into the intricate landscape of delayed childbearing, shedding light on the factors influencing individuals\' decisions to postpone parenthood. In a world undergoing rapid social, economic, and technological transformations, the concept of when and why to become a parent has evolved significantly. We explore historical trends, societal norms, psychological dynamics, policy implications, and prospects surrounding delayed childbearing. This review underscores the diverse influences shaping this trend, from economic considerations and changing cultural perspectives to advancements in reproductive technologies and the complexities of work-life balance. By examining the emotional dimensions and long-term consequences, we comprehensively understand the implications for individuals, families, and societies. As we conclude, we emphasize the importance of addressing challenges and embracing opportunities to create a supportive environment for those navigating the complex decisions tied to delayed childbearing.
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  • 文章类型: Journal Article
    背景:血友病携带者(HCs)面临许多心理挑战,主要与有一个受影响的孩子的可能性有关。重要的生殖决定,如选择植入前基因检测,或选择产前诊断,然后在受影响的男性胎儿的情况下是否继续或中断妊娠,必须考虑。尽管如此,心理特征在这种决策过程中的作用需要进一步研究。
    目的:本研究的目的是调查HCs对血友病的信念和情绪以及决策风格等认知因素。风险感知,应对压力的应对策略,认知闭合的需要可能会调节HCs的生殖决定。
    方法:参与者就血友病的信念和情绪进行了访谈,并填写了关于认知变量的在线标准化问卷。60个HCs参与了这项研究。
    结果:结果表明,由于儿童对一个或多个家庭成员疾病的负面经历以及对子女健康的高度关注,对血友病的高度困扰。具有以逻辑(相对于情感)推理为特征的心理特征,积极的应对方式和高度的确定性需求,倾向于选择诊断性产前检查而不是常规妊娠分析。
    结论:这项研究强调了血友病患者早期负面生活经历和几种认知因素对HCs选择产前检测的影响。
    BACKGROUND: Haemophilia carriers (HCs) face a multitude of psychological challenges, mainly linked to the possibility of having an affected child. Important reproductive decisions such as opting for pre-implantation genetic testing, or choosing prenatal diagnosis and then whether to continue or interrupt pregnancy in case of affected male fetus, have to be taken into consideration. Notwithstanding, the role of psychological characteristics on such decision-making process needs further investigation.
    OBJECTIVE: The aim of this study was to investigate whether HCs\' beliefs and emotions about haemophilia and cognitive factors such as decision-making style, risk perception, coping strategies in response to stress, and need for cognitive closure might modulate HCs\' reproductive decisions.
    METHODS: Participants were interviewed about their beliefs and emotions on haemophilia and filled an on-line standardized questionnaire on cognitive variables. Sixty HCs participated in this study.
    RESULTS: Results show that HCs with high distress for haemophilia given by negative childhood experiences for one or more family member illness and by high concern for their children\'s health, and with psychological traits characterized by logical (versus emotional) reasoning, active coping style and high need for certainty, tend to choose diagnostic prenatal tests over routine pregnancy analysis.
    CONCLUSIONS: This study highlighted the influence of negative early-life experience with haemophilia and of several cognitive factors in HCs choice of prenatal test.
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  • 文章类型: Journal Article
    在一个地标性的Fatwa,沙特阿拉伯的最高宗教权威——高级学者理事会——宣布伊斯兰允许冷冻保存卵母细胞。fatwa批准了取回,保存,和未来卵母细胞的使用,卵巢组织,和接受性腺毒性干预的癌症患者的整个卵巢。虽然意义重大,fatwa对癌症患者的规范有效地使这项技术无法提供给其他可能同样有益的人,包括患有其他疾病的患者或寻求选择性冷冻保存的患者。本文主张通过扩大沙特阿拉伯的卵母细胞冷冻保存范围来扩大生殖选择-无论不育的根本原因是什么-基于三个理由:该技术符合伊斯兰法律,为了医疗实践中的公平,在与沙特妇女的成功密切相关的国家社会和经济转型战略的背景下,支持她们的福祉和繁荣。
    In a landmark Fatwa, Saudi Arabia\'s highest religious authority-The Council of Senior Scholars-declared the Islamic permissibility of oocyte cryopreservation. The fatwa sanctioned the retrieval, preservation, and future use of oocytes, ovarian tissue, and whole ovaries from cancer patients receiving gonadotoxic interventions. Although momentous, the fatwa\'s specification of cancer patients effectively rendered this technology unavailable to others to whom it may be similarly beneficial, including patients with other medical conditions or patients seeking elective cryopreservation. This article argues in favor of widening reproductive choices through expanded access to oocyte cryopreservation in Saudi Arabia-regardless of the underlying cause of infertility-on three grounds: the technology\'s compliance with Islamic law, as a matter of fairness in medical practice, and as a means to support the well-being and flourishing of Saudi women within the context of a national societal and economic transformation strategy closely linked to their success.
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  • 文章类型: Journal Article
    评估SCD患儿父母对镰状细胞病(SCD)植入前遗传学检测(PGT)的认识和态度。
    SCD患儿的父母在进行常规SCD门诊就诊前,会得到一本关于PGT的教育手册。在他们的诊所访问后,父母被要求完成一项匿名调查。
    在接近的83项专利中,67(81%)完成了调查。67名父母中只有16名(24%)以前知道PGT用于SCD。在我们以诊所为基础的教育之后,67名父母中的65名(97%)表示,对于SCD儿童的父母来说,了解PGT很重要或非常重要。在有兴趣有更多孩子的父母中,32人中有29人(91%)会在保险范围内个人考虑使用PGT。
    SCD儿童的父母通常不知道PGT。在诊所接受教育时,父母认为PGT上的信息很有价值。儿科医生和其他卫生保健专业人员应告知SCD儿童的父母这种生殖选择。
    To evaluate awareness of and attitudes toward preimplantation genetic testing (PGT) for sickle cell disease (SCD) among parents of children with SCD.
    Parents of children with SCD were given an educational handbook on PGT before a routine SCD clinic visit. After their clinic visit, parents were asked to complete an anonymous survey.
    Of 83 patents approached, 67 (81%) completed the survey. Only 16 of the 67 parents (24%) were previously aware of PGT for SCD. After our clinic-based education, 65 of the 67 parents (97%) indicated that it was important or very important for parents of children with SCD to know about PGT. Among parents interested in having more children, 29 of 32 (91%) would personally consider using PGT if covered by insurance.
    Parents of children with SCD are generally not aware of PGT. When educated in clinic, parents viewed information on PGT as valuable. Pediatricians and other health care professionals should inform parents of children with SCD about this reproductive option.
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  • 文章类型: Journal Article
    Asha Hans explores the impact of new technologies on women with disabilities, with a focus on women from developing countries. For women with disabilities, especially in developing countries, these new advances are critical not only to their future quality of life, but also their identity and very survival.
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  • 文章类型: Journal Article
    自1980年代初以来,生育间隔已成为改善母婴健康的关键概念,在低收入国家引发对生育间隔做法的兴趣,并提请注意西非赞成长出生间隔的现行规范。在塞内加尔,Nef的Wolof概念,这意味着孩子的时间间隔太近,在道德上受到谴责,并暗示了由此产生的一系列对家庭福祉的负面影响。当Nef和“出生间隔”在关键方面相交时,包括承认延长出生间隔的健康益处,它们不是彼此的翻译,因为每一个都嵌入了关于社会关系的不同的更广泛的文化和政治假设。最值得注意的是,人口统计学概念生育间隔的支持者认为,生育后使用避孕方法推迟生育的做法可能有助于“赋予”妇女社会权力。在塞内加尔,相比之下,预防Nef(或短出生间隔)也被视为通过允许妇女更充分地照顾家庭来加强家庭幸福。本文借鉴政策文件和访谈,探讨女性和男性对Nef的理解,反过来批判性地反思人口概念的生育间隔。我们的发现加强了生育间隔概念与塞内加尔妇女和男子参与计划生育服务的相关性。塞内加尔对Nef禁忌的描述还表明,对短出生间隔进行污名化的社会规范可以使妇女在控制身体方面面临的限制合法化。
    Birth spacing has emerged since the early 1980s as a key concept to improve maternal and child health, triggering interest in birth spacing practices in low-income countries, and drawing attention to prevailing norms in favour of long birth intervals in West Africa. In Senegal, the Wolof concept of Nef, which means having children too closely spaced in time, is morally condemned and connotes a resulting series of negative implications for family well-being. While Nef and \"birth spacing\" intersect in key ways, including acknowledging the health benefits of longer birth intervals, they are not translations of each other, for each is embedded in distinct broader cultural and political assumptions about social relations. Most notably, proponents of the demographic concept of birth spacing assume that the practice of using contraception after childbearing to postpone births could contribute to \"empowering\" women socially. In Senegal, by contrast, preventing Nef (or short birth intervals) is also viewed as strengthening family well-being by allowing women to care more fully for their family. This paper draws on policy documents and interviews to explore women\'s and men\'s understanding of Nef, and in turn critically reflect on the demographic concept of birth spacing. Our findings reinforce the relevance of the concept of birth spacing to engage with women and men around family planning services in Senegal. Accounts of the Nef taboo in Senegal also show that social norms stigmatising short birth intervals can legitimise constraints faced by women on control of their body.
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  • 文章类型: Journal Article
    Cousin marriages, in the Netherlands most frequently between Turkish or Moroccan couples, are at higher risk of having offspring with recessive disorders. Often, these couples not perceive or accept this risk, and it is hardly considered a reason to refrain from family marriages. Preconception carrier screening (PCS) is offered to Jewish groups, and more recently in the Netherlands, to genetically isolated communities. In this study, Dutch Moroccan and Turkish women\'s perspectives on preconception carrier screening (PCS) and reproductive choices were explored.
    Individual interviews were held with Dutch Turkish and Moroccan consanguineously married women (n = 10) and seven group discussions with Turkish and Moroccan women (n = 86). Transcripts and notes were analyzed thematically.
    All women welcomed PCS particularly for premarital genetic screening; regardless of possible reproductive choices, they prefer information about their future child\'s health. Their perspectives on reproductive choices on the basis of screening results are diverse: refraining from having children is not an option, in vitro fertilization (IVF) combined with pre-implantation genetic diagnosis (PGD) was welcomed, while prenatal genetic diagnosis (PND), termination of pregnancy (TOP), in vitro fertilization with a donor egg cell, artificial insemination with donor sperm (AID), and adoption, were generally found to be unacceptable. Besides, not taking any special measures and preparing for the possibility of having a disabled child are also becoming optional now rather than being the default option.
    The women\'s preference for PCS for premarital screening as well as their outspokenness about not marrying or even divorcing when both partners appear to be carriers is striking. Raising awareness (of consanguinity, PCS and the choice for reproductive options), and providing information, screening and counseling sensitive to this target group and their preferences are essential in the provision of effective health care.
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  • 文章类型: Journal Article
    Pre-implantation genetic diagnosis (PGD) is an option for parents who have a child with sickle cell disease (SCD) to have another child without SCD. We conducted a survey of 19 parents with at least one child with SCD to investigate views on PGD. Before education, 44% of parents were aware of PGD. All parents rated PGD education as important. All parents considering another child also reported interest in using PGD if insurance covered its costs. Parents who have a child with SCD appear to be interested in PGD and educational tools informing this group about PGD should be developed.
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  • 文章类型: Comparative Study
    全球承认艾滋病毒感染者(PLHIV)的生殖健康权利。这项研究的目的是探索生殖选择,以及影响这些选择的因素,在南非豪登省Ekurhuleni卫生区的初级卫生保健(PHC)设施就诊的艾滋病毒阳性患者。
    2013年,在Ekurhuleni卫生区进行了横断面调查。在三个随机选择的社区卫生中心中,我们选择了HIV阳性患者的随机样本.在获得知情同意后,经过培训的现场工作者管理一份结构化问卷,以获取有关社会人口统计学的信息,生殖选择和生殖选择的知识。使用STATA®13分析调查数据。
    大多数调查参与者(n=430)是女性(70%)和失业(57%)。参与者的平均年龄为36.4岁(SD8.6):男性为40.8岁(SD8.7),女性为34.5岁(SD7.8)。在调查参与者中,46%的人表达了对儿童的渴望(95%CI:41.4-50.9)。在多元Logistic回归分析中,对儿童渴望的预测因素是年龄小于49岁,结婚或同居,也没有亲生孩子.没有孩子的PLHIV想要孩子的几率是16.48[95%CI:5.94-45.74]倍,与有两个或两个以上孩子的人相比,而对于那些不到25年的人来说,与50岁以上的孩子相比,想要孩子的几率为0.78[95%CI:0.23-2.59].关于可用生殖选择的PLHIV知识有限,大多数依靠卫生工作者的指导。
    应教育PHC级别的卫生保健提供者,以满足PLHIV的生殖健康需求。这些方面应反映在省和国家卫生政策中。
    There is global recognition of the reproductive health rights of people living with HIV (PLHIV). The aim of this research study was to explore the reproductive choices, and the factors influencing these choices, of HIV positive patients attending primary health care (PHC) facilities in the Ekurhuleni health district of the Gauteng Province of South Africa.
    During 2013, a cross-sectional survey was conducted in the Ekurhuleni health district. At each of three randomly selected community health centres, a random sample of HIV positive patients was selected. After informed consent was obtained, trained fieldworkers administered a structured questionnaire that elicited information on socio-demographics, reproductive choices and knowledge of reproductive options. Survey data were analysed using STATA® 13.
    The majority of survey participants (n = 430) were female (70%) and unemployed (57%). The mean age of participants was 36.4 years (SD 8.6): 40.8 years (SD 8.7) for men and 34.5 years (SD7.8) for women. Among survey participants, 46% expressed a desire for children (95% CI: 41.4-50.9). In the multiple logistic regression analysis, predictors of desire for children were age less than 49 years, marriage or living together, and no biological children. The odds of wanting children was 16.48 [95% CI: 5.94-45.74] times higher for PLHIV without children, compared with those with two or more children, while for those less than 25 years, the odds of wanting children was 0.78 [95% CI: 0.23-2.59] compared with those older than 50 years. The PLHIV knowledge on the available reproductive options was limited, with the majority relying on the guidance of the health workers.
    Health care providers at PHC level should be educated to address the reproductive health needs of PLHIV. These aspects should be reflected in provincial and national health policies.
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