maternal screening

  • 文章类型: Journal Article
    背景:产前检查对于预防常见的遗传疾病至关重要,然而,它们在印度孕妇中的可接受性仍有待探索。这项研究旨在调查印度孕妇的产前筛查测试的可接受性及其与人口统计学特征的相关性。
    方法:在三级医疗机构进行了一项横断面研究,公立医院,涉及200名孕妇。数据是通过自我管理的问卷收集的,该问卷评估了人口统计信息和产前筛查测试的可接受性。统计分析包括卡方检验和逻辑回归。
    结果:大多数参与者对产前筛查测试表现出足够的可接受性,73%的人得分高于门槛。与更高的可接受性相关的因素包括更年轻的母亲年龄,孕中期胎龄,高等教育,有薪就业,城市住宅。然而,平价等因素,血缘,观念模式,与遗传病家族史无明显关联。
    结论:该研究强调了印度孕妇对产前筛查测试的积极态度,尤其是在年轻人中,受过更多的教育,和城市人口。这些发现强调需要有针对性的干预措施,以提高对产前筛查的认识和可及性,最终有助于减轻印度的遗传疾病负担。
    BACKGROUND: Prenatal screening tests are essential for preventing common genetic disorders, yet their acceptability among pregnant women in India remains unexplored. This study aims to investigate the acceptability of prenatal screening tests and their correlation with demographic characteristics among pregnant women in India.
    METHODS: A cross-sectional study was conducted at a tertiary care, public hospital, involving 200 pregnant women. Data were collected through a self-administered questionnaire assessing demographic information and the acceptability of prenatal screening tests. Statistical analysis included chi-square tests and logistic regression.
    RESULTS: Most participants demonstrated adequate acceptability toward prenatal screening tests, with 73% scoring above the threshold. Factors associated with higher acceptability included younger maternal age, second-trimester gestational age, higher education, salaried employment, and urban residence. However, factors such as parity, consanguinity, mode of conception, and family history of genetic disease showed no significant associations.
    CONCLUSIONS: The study highlights positive attitudes toward prenatal screening tests among pregnant women in India, particularly among younger, more educated, and urban populations. These findings emphasize the need for targeted interventions to enhance awareness and accessibility of prenatal screening, ultimately contributing to the reduction of the genetic disorder burden in India.
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  • 文章类型: Journal Article
    先天性梅毒带来了巨大的全球负担,导致胎儿丢失,死产,新生儿死亡率,和先天性感染。尽管世界卫生组织(世卫组织)在2007年确定了每10万活产不到50例的目标,全球发病率正在上升,特别是在中低收入地区。最近的数据表明,每10万活产婴儿中有473例病例,导致661,000例先天性梅毒,包括355,000个不良出生结局,例如早期胎儿死亡,死产,新生儿死亡,早产或低出生体重婴儿,和临床先天性梅毒的婴儿。令人震惊的是,这些不良结局中只有6%发生在登记的母亲身上,筛选,和治疗。与许多新生儿感染不同,通过有效的产前筛查和感染孕妇的治疗,先天性梅毒是可以预防的。然而,尽管有可用的筛查工具,负担得起的治疗选择,以及将预防计划纳入各国的产前保健,先天性梅毒仍然是全球紧迫的公共卫生问题。这篇综述旨在总结当前的流行病学,传输,和治疗妊娠梅毒,以及探索减少垂直传播的全球努力,并解决未能达到世卫组织消除目标的原因。
    Congenital syphilis presents a significant global burden, contributing to fetal loss, stillbirth, neonatal mortality, and congenital infection. Despite the target established in 2007 by the World Health Organization (WHO) of fewer than 50 cases per 100,000 live births, the global incidence is on the rise, particularly in low- and middle-income regions. Recent data indicate a rate of 473 cases per 100,000 live births, resulting in 661,000 total cases of congenital syphilis, including 355,000 adverse birth outcomes such as early fetal deaths, stillbirths, neonatal deaths, preterm or low-birth-weight births, and infants with clinical congenital syphilis. Alarmingly, only 6% of these adverse outcomes occurred in mothers who were enrolled, screened, and treated. Unlike many neonatal infections, congenital syphilis is preventable through effective antenatal screening and treatment of infected pregnant women. However, despite available screening tools, affordable treatment options, and the integration of prevention programs into antenatal care in various countries, congenital syphilis remains a pressing public health concern worldwide. This review aims to summarize the current epidemiology, transmission, and treatment of syphilis in pregnancy, as well as to explore global efforts to reduce vertical transmission and address the reasons for falling short of the WHO elimination target.
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  • 文章类型: Letter
    二叶主动脉瓣,先天性心脏病,超声心动图,产妇筛查。
    暂无摘要。
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  • 文章类型: English Abstract
    关于儿童血栓形成遗传易感性的报道数量正在增加。儿童血栓形成的风险因患者年龄而异,遗传易感性的贡献也不同。术语早发型易栓症,这种情况发生在20岁之前的基因诊断患者中,已定义。然后,在日本建立了登记处。Further,出版物得到了全面审查,结果揭示了患者的遗传和临床特征。不到60%的患者出现蛋白C(PC)缺乏症,超过一半的人有PC基因单等位基因变异。随着年龄的增长,蛋白S或抗凝血酶缺乏的患者数量增加。他们的年龄在6至8岁之间。PC-鸟取和蛋白质S-德岛,在日语中是高频率和低风险的变体,有助于血栓形成的发展。然而,PC-Tottori不影响严重PC缺乏的发展。在32个EOT家族中发现了一个特殊的从头PC缺陷变异体,三对母亲-新生儿同时发生血栓形成。需要针对PC缺乏症进行适当的EOT筛查测试,以预防孕产妇和新生儿血栓形成。
    The number of reports on genetic predisposition to pediatric thrombosis is increasing. The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The term early-onset thrombophilia, which occurs until the age of 20 years in patients with genetic diagnosis, was defined. Then, the registry in Japan was established. Further, publications were reviewed comprehensively, and results revealed the genetic and clinical characteristics of patients. Less than 60% of patients presented with protein C (PC) deficiency, and over half of them had PC-gene monoallelic variants. The number of patients with protein S or antithrombin deficiency increased with age. None of them were aged between 6 and 8 years. PC-Tottori and protein S-Tokushima, which are high-frequency and low-risk variants in Japanese, contributed to the development of thrombosis. However, PC-Tottori did not affect the development of severe PC deficiency. One exceptional de novo PC-deficient variant was identified in 32 EOT families, and thrombosis developed concurrently in three pairs of mothers-newborns. Appropriate EOT screening tests targeting PC deficiency are required to prevent maternal and neonatal thromboses.
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  • 文章类型: Journal Article
    Obstetrician-gynecologists in the United States have little clinical experience with the epidemiology, pathophysiology, diagnosis, and treatment of Chagas disease. The number of US parturients born in Central and South America has continued to increase over the last 20 years, making US obstetricians more and more likely to care for Chagas-infected mothers who may never be identified until dealing with long-term consequences of the disease. A literature search demonstrates that few US obstetric care providers recognize the risk of vertical transmission for the neonate and the missed opportunity of infant treatment to decrease disease prevalence. Most women will be asymptomatic during pregnancy, as will their neonates, making routine laboratory screening a necessity for the identification of at-risk neonates. While the benefits of treating asymptomatic women identified in pregnancy are not as clear as the benefits for the infants, future health screenings for evidence of the progression of Chagas disease may be beneficial to these families. The literature suggests that screening for Chagas in pregnancy in the US can be done in a cost-effective way. When viewed through an equity lens, this condition disproportionately affects families of lower socioeconomic means. Improved education of healthcare providers and appropriate resources for diagnosis and treatment can improve this disparity in health outcomes.
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  • 文章类型: Journal Article
    BACKGROUND: The aim of this study was to investigate the seroprevalence of cytomegalovirus (CMV) infection using the serologic status of CMV IgG and IgM antibodies in Korean women of childbearing age.
    METHODS: We retrospectively reviewed CMV IgG and IgM test results from Korean women aged 15-49 years who underwent testing between January 2009 and December 2019. Seroprevalence of CMV IgG and IgM by year and age was investigated.
    RESULTS: The study period was 11 years, and among 6837 samples tested, 95.8% were CMV IgG-positive. The seropositivity in women aged 15- <20 years was significantly lower (77.5%) than older age groups. Among 6837 total CMV IgG tests, 75.9% (5186) had concurrently measured CMV IgM results among which 2.4% were IgM-positive.
    CONCLUSIONS: Considering the low CMV seropositivity of women younger than 20 years, they may need prenatal education for CMV infection.
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  • 文章类型: Case Reports
    Congenital syphilis remains a significant public health problem nowadays. We describe the presentation of an infant with a delayed diagnosis of congenital syphilis, with a negative initial non-treponemal test. Our aim is to shed light on the incidence of missed prevention, the importance of awareness, maternal screening, and early diagnosis.
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  • 文章类型: Journal Article
    UNASSIGNED: The early-onset sepsis (EOS) calculator was developed and validated in a setting with routine-based group B Streptococcus (GBS) screening.
    OBJECTIVE: The study aimed to evaluate the extent of influence exerted by risk-based GBS screening on management recommendations by the EOS calculator.
    METHODS: All newborns with a gestational age greater than 35 weeks were screened for EOS risk factors in a Dutch regional teaching hospital using a risk-based GBS screening strategy. We calculated the EOS risk at birth and stratified the infants into the following 3 risk levels with corresponding management recommendations: low, <0.65; intermediate, 0.65-1.54; and high, >1.54 per 1000 live newborns. Thereafter, we recalculated the EOS risk and recommendation for the newborn infants without available maternal GBS screening results at birth.
    RESULTS: In one year, 1,877 eligible births occurred; of them, 206 infants were included. Maternal GBS status was available for 28 of 206 infants (14%) at birth, while a definitive GBS status was later available for 162 of 206 infants (79%). Median EOS risk was slightly lower after definitive GBS status was determined (0.41 vs. 0.46 per 1,000 live births, P=0.004). In 199 of 206 newborn infants (97%), the EOS calculator recommendation remained unchanged after the GBS results unavailable at birth were updated to definitive GBS status. Use of GBS status at birth versus definitive GBS status did not result in the withholding of antibiotic treatment of the newborn infants included in this study.
    CONCLUSIONS: Risk-based GBS screening is compatible with EOS calculator recommendations. Larger studies are needed to develop the best strategy for combining GBS screening and EOS calculator recommendations.
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  • 文章类型: Journal Article
    Objective To examine the utility of the Healthy Start Screen (HSS), which is an assessment of health, environment, and behavioral risk factors offered to all pregnant women in the state of Florida, in identifying women at risk for developing postpartum depression (PPD). Methods The sample for this Institutional Review Board (IRB)-approved, retrospective study consisted of patients who presented to a women\'s clinic for a new prenatal visit. Those patients who completed both the HSS at their prenatal visit and the Edinburgh Postnatal Depression Scale (EPDS) at their postpartum visit were included. We focused on items 1-10 of the HSS, where patients could respond with either \"yes\" or \"no\", and identified a positive EPDS as any score greater than or equal to 12. Results Women who identified as feeling down, depressed or hopeless, feeling alone when facing problems, to having ever received mental health services, or to having any trouble paying bills were more likely to have an EPDS score greater than or equal to 12. Conclusion The HSS, currently mandated by the state of Florida to be offered to all pregnant women, is a useful tool for identifying women at increased risk of developing PPD.
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  • 文章类型: Journal Article
    Maternal primary and non-primary cytomegalovirus (CMV) infection during pregnancy can result in in utero transmission to the developing fetus. Congenital CMV (cCMV) can result in significant morbidity, mortality or long-term sequelae, including sensorineural hearing loss, the most common sequela. As a leading cause of congenital infections worldwide, cCMV infection meets many of the criteria for screening. However, currently there are no universal programs that offer maternal or neonatal screening to identify infected mothers and infants, no vaccines to prevent infection, and no efficacious and safe therapies available for the treatment of maternal or fetal CMV infection. Data has shown that there are several maternal and neonatal screening strategies, and diagnostic methodologies, that allow the identification of those at risk of developing sequelae and adequately detect cCMV. Nevertheless, many questions remain unanswered in this field. Well-designed clinical trials to address several facets of CMV treatment (in pregnant women, CMV-infected fetuses and both symptomatic and asymptomatic neonates and children) are required. Prevention (vaccines), biology and transmission factors associated with non-primary CMV, and the cost-effectiveness of universal screening, all demand further exploration to fully realize the ultimate goal of preventing cCMV. In the meantime, prevention of primary infection during pregnancy should be championed to all by means of hygiene education.
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