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Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives. 超长链酰基辅酶A脱氢酶缺乏症:家庭影响和展望。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-10-06 DOI: 10.3390/ijns9040053
Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R Rosen, Patricia L Hall, Juanita Neira Fresneda

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The resulting clinical manifestations are variable in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Treatment can consist of limiting the dietary intake of long-chain fatty acids, the prevention of fasting, and the supplementation of medium-chain fats. This study, conducted in the context of a 5-year long-term follow-up on VLCADD, evaluates how the diagnosis of this fatty acid disorder impacts the family, specifically as it relates to the medical diet and barriers to care. Caregivers (n = 10) of individuals with VLCADD responded to a survey about how VLCADD potentially impacts their family. The review included the clinical outcomes of the patients (n = 11), covering instances of rhabdomyolysis, cardiomyopathy, and hospitalizations related to VLCADD. Families affected by VLCADD experience barriers to care, including difficulties with finances, ability to work, and access to nutrition.

甚长链酰基辅酶a脱氢酶缺乏症(VLCADD)是一种脂肪酸氧化障碍,其特征是酶甚长链酰辅酶a脱氢酶分解具有14至20个长碳链的脂肪酸的能力降低。由此产生的临床表现在严重程度上是可变的,包括低酮症低血糖、横纹肌溶解症和心肌病。治疗可以包括限制长链脂肪酸的饮食摄入、预防禁食和补充中链脂肪。这项研究是在对VLCADD进行5年长期随访的背景下进行的,评估了这种脂肪酸障碍的诊断对家庭的影响,特别是与医疗饮食和护理障碍有关。VLCADD患者的护理人员(n=10)对一项关于VLCADD如何潜在影响其家庭的调查做出了回应。该综述包括患者(n=11)的临床结果,包括横纹肌溶解症、心肌病和与VLCADD相关的住院情况。受VLCADD影响的家庭在护理方面遇到障碍,包括经济困难、工作能力和获得营养。
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引用次数: 0
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen. 全基因组测序可以从干血点样本的单个子穿孔中识别临床相关的变体。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-09-21 DOI: 10.3390/ijns9030052
David J McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S Thomson, Louise J Fraser, Pauline A Fujita, Jennifer Becq, Zoya Kingsbury, Mark T Ross, Stuart J Moat, Sian Morgan

The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5-6 mm) can be taken from DBS specimens to use as inputs for a range of biochemical assays. Advances in DNA sequencing workflows allow whole-genome sequencing (WGS) libraries to be generated directly from inputs such as peripheral blood, saliva, and DBS. We compared WGS metrics obtained from libraries generated directly from DBS to those generated from DNA extracted from peripheral blood, the standard input for this type of assay. We explored the flexibility of DBS as an input for WGS by altering the punch number and size as inputs to the assay. We showed that WGS libraries can be successfully generated from a variety of DBS inputs, including a single 3 mm or 6 mm diameter punch, with equivalent data quality observed across a number of key metrics of importance in the detection of gene variants. We observed no difference in the performance of DBS and peripheral-blood-extracted DNA in the detection of likely pathogenic gene variants in samples taken from individuals with cystic fibrosis or phenylketonuria. WGS can be performed directly from DBS and is a powerful method for the rapid discovery of clinically relevant, disease-causing gene variants.

干血点(DBS)的收集有助于新生儿筛查世界各地医疗系统中各种罕见但非常严重的疾病。可以从DBS样本中取出不同尺寸(1.5-6mm)的子冲头,用作一系列生化测定的输入。DNA测序工作流程的进步使全基因组测序(WGS)文库能够直接从外周血、唾液和DBS等输入中生成。我们比较了从DBS直接生成的文库中获得的WGS指标与从外周血中提取的DNA(这类测定的标准输入)中获得的指标。我们探索了DBS作为WGS输入的灵活性,通过改变作为分析输入的冲头数量和大小。我们表明,WGS文库可以从各种DBS输入中成功生成,包括单个直径为3毫米或6毫米的冲头,在检测基因变异的许多关键指标中观察到同等的数据质量。我们观察到DBS和外周血提取的DNA在检测囊性纤维化或苯丙酮尿症患者样本中可能的致病基因变异方面的表现没有差异。WGS可以直接从DBS进行,是快速发现临床相关致病基因变异的强大方法。
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引用次数: 0
Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening. 肾上腺白细胞病患者对新生儿性别特异性筛查的态度。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-09-02 DOI: 10.3390/ijns9030051
Hemmo A F Yska, Lidewij Henneman, Rinse W Barendsen, Marc Engelen, Stephan Kemp

Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study investigates the attitudes of individuals with ALD towards sex-specific NBS for ALD. A questionnaire was sent to all patients in the Dutch ALD cohort. Invitees were asked who they thought should be screened for ALD: only boys, both boys and girls or neither. The motives and background characteristics of respondents were compared between screening preferences. Out of 108 invitees, 66 participants (61%), 38 men and 28 women, participated in this study. The majority (n = 53, 80%) favored screening both newborn boys and girls for ALD, while 20% preferred boys only. None of the respondents felt that newborns should not be screened for ALD. There were no differences in the background characteristics of the respondents between screening preferences. Our study revealed a diverse range of motivations underlying respondents' screening preferences. This study is one of the first to investigate the attitudes of patients towards sex-specific screening for ALD. The outcomes of this study can offer insights to stakeholders engaged in the implementation of NBS programs. ALD patients are important stakeholders who can provide valuable input in this process.

X连锁肾上腺脑白质营养不良(ALD)的新生儿筛查(NBS)可以在出现危及生命的表现之前识别受影响的个体。一些国家决定只对男孩进行筛查(按性别进行筛查)。本研究调查了ALD患者对ALD的性别特异性NBS的态度。向荷兰ALD队列中的所有患者发送了一份问卷。受邀者被问及他们认为谁应该接受ALD筛查:只有男孩,男孩和女孩都有,或者两者都没有。在筛选偏好之间比较受访者的动机和背景特征。在108名受邀者中,66名参与者(61%),38名男性和28名女性参与了这项研究。大多数人(n=53,80%)赞成对新生儿男孩和女孩进行ALD筛查,而20%的人只喜欢男孩。没有一位受访者认为新生儿不应该接受ALD筛查。不同筛选偏好的受访者的背景特征没有差异。我们的研究揭示了受访者筛选偏好背后的各种动机。这项研究是最早调查患者对ALD性别特异性筛查态度的研究之一。这项研究的结果可以为参与国家统计局项目实施的利益相关者提供见解。ALD患者是重要的利益相关者,他们可以在这一过程中提供有价值的投入。
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引用次数: 1
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen. 在第二次新生儿筛查中早期发现非经典先天性肾上腺增生相关的雄激素异常差异。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-09-01 DOI: 10.3390/ijns9030050
Bonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, Christina M Koppin, Nicole R Fraga, V Reid Sutton, Lefkothea P Karaviti, Gagandeep Bhullar, Mimi S Kim

Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies-we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected at tertiary centers in Houston (HOU) and Los Angeles (LA) on 35 patients with NCAH, comparing patients identified via the NBS vs. during childhood, 17-hydroxyprogesterone (17-OHP) levels, genotype, and phenotype. The NBS filter-paper 17-OHP levels and daily cutoffs were recorded on initial and second screens. In all, 53% of patients with NCAH in the HOU cohort were identified as infants via the second NBS. Patients identified clinically later in childhood presented at a similar age (HOU: n = 9, 5.5 ± 3.1 years; LA: n = 18, 7.9 ± 4 years) with premature pubarche in almost all. Patients in LA had more virilized phenotypes involving clitoromegaly and precocious puberty and were older at treatment onset compared with those identified in HOU by the second NBS (HOU: 3.2 ± 3.9 years; LA: 7.9 ± 4.0 years, p = 0.02). We conclude that the early detection of NCAH could prevent hyperandrogenism and its adverse consequences, with half of the cases in HOU detected via a second NBS. Further studies of genotyping and costs are merited.

先天性肾上腺增生症(CAH)的筛查在不同地区仍然是异质性的,我们试图通过美国两个地区的一次新生儿筛查(NBS)与两次新生儿筛查来确定非经典CAH(NCAH)检测的比例。在休斯顿(HOU)和洛杉矶(LA)的三级中心收集了35名NCAH患者的数据,比较了通过NBS鉴定的患者与儿童时期的患者、17-OHP水平、基因型和表型。NBS滤纸17-OHP水平和每日截止值记录在初始和第二个屏幕上。总之,HOU队列中53%的NCAH患者通过第二次NBS确定为婴儿。儿童期后期临床鉴定的患者年龄相似(HOU:n=9,5.5±3.1岁;LA:n=18,7.9±4岁),几乎所有患者都患有耻骨早。与第二次NBS发现的HOU患者相比,LA患者具有更多涉及阴蒂肥大和性早熟的男性化表型,并且在治疗开始时年龄更大(HOU:3.2±3.9岁;LA:7.9±4.0岁,p=0.02)。我们得出结论,早期检测NCAH可以预防高雄激素血症及其不良后果,HOU中有一半的病例是通过第二个NBS检测到的。基因分型和成本的进一步研究是值得的。
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引用次数: 0
Parental Perspectives on Communication from Health Care Providers following a Newborn Diagnosis of Congenital Cytomegalovirus Infection: A Secondary Analysis of a Qualitative Study. 新生儿诊断为先天性巨细胞病毒感染后,父母对医护人员沟通的看法:一项定性研究的二次分析。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-27 DOI: 10.3390/ijns9030049
Tatiana M Lanzieri, Mary Ann K Hall, Ashrita Rau, Holly McBride, Danie Watson, Carol Rheaume, Gail Demmler-Harrison

The study objective was to identify communication messages that parents of children diagnosed with congenital cytomegalovirus (cCMV) infection reported as essential and helpful. We performed a secondary analysis of focus groups and interviews conducted with 41 parents of children with cCMV who had enrolled in a long-term follow-up cCMV study at an academic medical center. Three groups of parents who had children with cCMV participated in the study: parents with children symptomatic at birth, parents with children asymptomatic at birth who later developed sensorineural hearing loss, and parents with children asymptomatic at birth who remained asymptomatic into adulthood. Using a health marketing approach, we identified six general themes from the focus group sessions: initial diagnosis, likely health outcome(s), comfort and coping, symptom watch, resources, and prevention. Receiving the initial diagnosis was shocking for many parents, and they wanted to know how their child would or could be affected. They valued access to the information, follow-up visits for early detection of hearing loss and other developmental delays, and support from other parents. Parents wished to obtain this information from their pediatrician but felt that experts offered more up-to-date knowledge about prognosis, monitoring, and treatment. With more U.S. states implementing cCMV screening strategies which would lead to more infant diagnoses, it will be necessary for providers to meet parents' expectations and communication needs.

该研究的目的是确定被诊断为先天性巨细胞病毒(cCMV)感染的儿童的父母报告的必要和有用的沟通信息。我们对焦点小组进行了二次分析,并对41名cCMV儿童的父母进行了访谈,他们在一家学术医疗中心参加了一项长期随访cCMV研究。有三组患有cCMV的父母参与了这项研究:孩子出生时有症状的父母,孩子出生时无症状但后来出现感音神经性听力损失的父母,以及孩子出生时没有症状但成年后仍无症状的父母。使用健康营销方法,我们从焦点小组会议中确定了六个一般主题:初步诊断、可能的健康结果、舒适度和应对、症状观察、资源和预防。收到最初的诊断令许多父母感到震惊,他们想知道自己的孩子会受到什么影响。他们重视信息的获取、早期发现听力损失和其他发育迟缓的随访,以及其他家长的支持。家长们希望从儿科医生那里获得这些信息,但认为专家们提供了关于预后、监测和治疗的最新知识。随着越来越多的美国州实施cCMV筛查策略,这将导致更多的婴儿诊断,提供者将有必要满足父母的期望和沟通需求。
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引用次数: 0
New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 作为长链3-羟基酰基-CoA脱氢酶缺乏的可靠指标的新酰基肉碱比率。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-25 DOI: 10.3390/ijns9030048
Galina V Baydakova, Polina G Tsygankova, Natalia L Pechatnikova, Olga A Bazhanova, Yana D Nazarenko, Ekaterina Y Zakharova

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established "HADHA ratio" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control group. Apart from 54 LCHAD deficiency patients, the "HADHA ratio" was calculated in 19 patients with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As VLCAD-deficient patients did not show increased "HADHA ratio", the results emphasized the high specificity of this new ratio. Therefore, the "HADHA ratio" was shown to be instrumental in improving the overall performance of MS/MS-based analysis of acylcarnitine levels in the diagnostics of LCHAD/MTP deficiencies. The ratio was demonstrated to increase the sensitivity and specificity of this method and reduce the chances of false-negative results.

长链3-羟基酰基-CoA脱氢酶(LCHAD)和线粒体三功能蛋白(MTP)缺乏是脂肪酸β-氧化的罕见致命疾病,没有明显的基因型-表型相关性。通过MS/MS测量酰基肉毒碱是目前对这些疾病的诊断工作。尽管如此,仍有假阳性和假阴性结果的报道,这突出了需要更敏感和特异的生物标志物。这项研究包括54名已通过生化和分子方法证实的LCHAD/MTP缺乏症患者。使用ESI-MS/MS对干燥血斑中的酰基肉毒碱进行分析。与对照组相比,所有54名受影响个体的“HADHA比率”=(C16OH+C18OH+C18:1OH)/C0均显著升高。除了54名LCHAD缺乏症患者外,还计算了19名超长链酰基辅酶A脱氢酶(VLCAD)缺乏症患者的“HADHA比率”。由于VLCAD缺陷患者没有表现出“HADHA比率”的增加,结果强调了这一新比率的高度特异性。因此,“HADHA比率”被证明有助于提高基于MS/MS的酰基肉碱水平分析在诊断LCHAD/MTP缺陷中的整体性能。该比率被证明可以提高该方法的灵敏度和特异性,并减少假阴性结果的机会。
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引用次数: 0
Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences. 匈牙利新生儿囊性纤维化筛查的第一年经验。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-23 DOI: 10.3390/ijns9030047
Andrea Xue, István Lénárt, Judit Kincs, Hajnalka Szabó, Andrea Párniczky, István Balogh, Anna Deák, Péter Béla Monostori, Krisztina Hegedűs, Attila J Szabó, Ildikó Szatmári

The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) CFNBS protocol (IRT/IRT×PAP/IRT) was applied with an IRT-dependent safety net (SN). Out of 88,400 newborns, 256 were tested screen-positive. Fourteen cystic fibrosis (CF) and two cystic fibrosis-positive inconclusive diagnosis (CFSPID) cases were confirmed from the screen-positive cases, and two false-negative cases were diagnosed later. Based on the obtained results, a sensitivity of 88% and a positive predictive value (PPV) of 5.9% were calculated. Following the recognition of false-negative cases, the calculation method of the age-dependent cut-off was changed. In purely biochemical CFNBS protocols, a small protocol change, even after a short period, can have a significant positive impact on the performance. CFNBS should be monitored continuously in order to fine-tune the screening strategy and define the best local practices.

本研究的目的是根据第一年的筛查结果,评估匈牙利囊性纤维化新生儿筛查(CFNBS)计划的策略。应用免疫反应性胰蛋白酶原(IRT)和胰腺炎相关蛋白(PAP)联合CFNBS方案(IRT/IRT×PAP/IRT)和IRT依赖性安全网(SN)。在88400名新生儿中,256名被检测为筛查阳性。从筛查阳性病例中确认了14例囊性纤维化(CF)和2例囊性纤维阳性非决定性诊断(CFSPID)病例,随后诊断了2例假阴性病例。根据获得的结果,计算出88%的灵敏度和5.9%的阳性预测值(PPV)。随着假阴性病例的识别,年龄相关截止值的计算方法发生了变化。在纯生物化学的CFNBS协议中,即使在短时间后,一个小的协议更改也会对性能产生显著的积极影响。应持续监控CFNBS,以微调筛选策略并确定最佳本地实践。
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引用次数: 0
The Use of Saliva Samples to Test for Congenital Cytomegalovirus Infection in Newborns: Examination of False-Positive Samples Associated with Donor Milk Use. 使用唾液样本检测新生儿先天性巨细胞病毒感染:检查与供体乳使用相关的假阳性样本
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-17 DOI: 10.3390/ijns9030046
Whitney Wunderlich, Abbey C Sidebottom, Anna K Schulte, Jessica Taghon, Sheila Dollard, Nelmary Hernandez-Alvarado

A universal screening research study was conducted in six hospitals to identify the clinical sensitivity of polymerase chain reaction (PCR) testing on newborn dried blood spots (DBSs) versus saliva specimens for the diagnosis of congenital cytomegalovirus (cCMV). CMV DNA positive results from DBSs or saliva were confirmed with urine testing. Findings of several false-positive (FP) saliva PCR results prompted an examination of a possible association with donor milk. Documentation of the frequency of positive saliva results, including both true-positive (TP) and FP status from clinical confirmation, occurred. The frequency of donor milk use was compared for TP and FP cases. Of 22,079 participants tested between 2016 and 2022, 96 had positive saliva results, 15 were determined to be FP, 79 TP, and 2 were excluded for incomplete clinical evaluation. Newborn donor milk use was identified for 18 (19.14%) of all the positive saliva screens. Among the 15 FPs, 11 (73.33%) consumed donor milk compared to 7 of the 79 TPs (8.8%) (OR 28.29, 95% CI 7.10-112.73, p < 0.001). While milk bank Holder pasteurization inactivates CMV infectivity, CMV DNA may still be detectable. Due to this possible association, screening programs that undertake testing saliva for CMV DNA may benefit from documenting donor milk use as a potential increased risk for FP results.

在6家医院开展了新生儿干血斑(DBSs)与唾液标本聚合酶链反应(PCR)检测诊断先天性巨细胞病毒(cCMV)的临床敏感性研究。尿检和唾液CMV DNA检测结果均为阳性。几个假阳性(FP)唾液PCR结果的发现促使检查可能与供体牛奶的关联。记录了唾液阳性结果的频率,包括临床确认的真阳性(TP)和FP状态。比较TP和FP病例的供乳使用频率。在2016年至2022年期间测试的22079名参与者中,96人唾液结果呈阳性,15人被确定为FP, 79人被确定为TP, 2人因临床评估不完整而被排除在外。在所有唾液筛查阳性的患者中,有18例(19.14%)使用了新生儿供乳。在15名FPs中,11名(73.33%)消耗了供体奶,而79名tp中有7名(8.8%)(OR 28.29, 95% CI 7.10-112.73, p < 0.001)。虽然牛奶银行持有人巴氏杀菌灭活巨细胞病毒的感染性,巨细胞病毒DNA可能仍然可检测到。由于这种可能的联系,进行唾液巨细胞病毒DNA检测的筛查项目可能会受益于记录供体奶的使用,因为这可能会增加FP结果的风险。
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引用次数: 0
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong. 香港公众及医疗机构对保留干血检测卡及其用于扩展基因检测的接受程度
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-11 DOI: 10.3390/ijns9030045
Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau, Ho Ming Luk, Chloe Miu Mak, Matthew Chun Wing Yeung, Olivia Miu Yung Ngan

Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as quality assurance and forensics, making it the ideal candidate for bio-banking. However, worldwide policies vary with regard to the duration of storage of DBS cards and how it can be used. Recent advances in genomics have also made it possible to perform extended genetic testing on DBS cards in the newborn period to diagnose both actionable and non-actionable childhood and adult diseases. Both storage and secondary uses of DBS cards raise many ethical, clinical, and social questions. The openness of the key stakeholders, namely, parents and healthcare providers (HCPs), to store the DBS cards, and for what duration and purposes, and to extended genetic testing is largely dependent on local cultural-social-specific factors. The study objective is to assess the parents' and HCPs' awareness and receptivity toward DBS retention, its secondary usage, and extended genetic testing. A cross-sectional, self-administrated survey was adopted at three hospitals, out of which two were public hospitals with maternity services, between June and December 2022. In total, 452 parents and 107 HCPs completed and returned the survey. Overall, both HCPs and parents were largely knowledgeable about the potential benefits of DBS card storage for a prolonged period and its secondary uses, and they supported extended genetic testing. Knowledge gaps were found in respondents with a lower education level who did not know that a DBS card could be stored for an extended period (p < 0.001), could support scientific research (p = 0.033), and could aid public health research, and future policy implementation (p = 0.030). Main concerns with regard to DBS card storage related to potential privacy breaches and anonymity (Parents 70%, HCPs 60%). More parents, compared to HCPs, believed that storing DBS cards for secondary research does not lead to a reciprocal benefit to the child (p < 0.005). Regarding extended genetic testing, both groups were receptive and wanted to know about actionable childhood- and adult-onset diseases. More parents (four-fifths) rather than HCPs (three-fifths) were interested in learning about a variant with unknown significance (p < 0.001). Our findings report positive support from both parents and HCPs toward the extended retention of DBS cards for secondary usage and for extended genetic testing. However, more efforts to raise awareness need to be undertaken in addition to addressing the ethical concerns of both parents and HCPs to pave the way forward toward policy-making for DBS bio-banking and extended genetic testing in Hong Kong.

新生儿筛查(NBS)项目的干血斑(DBS)卡代表了丰富的生物学数据。它们可以很容易地长时间储存,具有支持医学和公共卫生研究的潜力,并且具有二次用途,例如质量保证和法医,使其成为生物银行的理想候选者。然而,在星展卡的存续期和使用方式方面,世界各国的政策各不相同。基因组学的最新进展也使在新生儿时期对DBS卡进行延长的基因检测成为可能,以诊断可采取行动和不可采取行动的儿童和成人疾病。DBS卡的存储和二次使用都会引发许多伦理、临床和社会问题。关键的利益相关者,即父母和医疗保健提供者(HCPs)是否开放存储DBS卡,以及存储的时间和目的,以及延长基因检测的时间,在很大程度上取决于当地的文化和社会特定因素。本研究的目的是评估父母和HCPs对DBS保留、其二次使用和扩展基因检测的认识和接受程度。在2022年6月至12月期间,对三家医院(其中两家是提供产科服务的公立医院)进行了横断面、自主管理的调查。共有452名家长和107名医护人员完成并返回了调查。总体而言,HCPs和家长都非常了解DBS卡长期存储的潜在好处及其二次用途,并且他们支持扩展基因检测。受教育程度较低的受访者存在知识空白,他们不知道DBS卡可以长期存储(p < 0.001),可以支持科学研究(p = 0.033),可以帮助公共卫生研究和未来的政策实施(p = 0.030)。关于DBS卡存储的主要担忧与潜在的隐私泄露和匿名性有关(家长70%,HCPs 60%)。与HCPs相比,更多的家长认为存储DBS卡用于二次研究不会给孩子带来互惠利益(p < 0.005)。关于扩展的基因检测,两组都愿意接受,并希望了解可采取行动的儿童和成人发病疾病。更多的父母(五分之四)而不是HCPs(五分之三)有兴趣了解具有未知意义的变异(p < 0.001)。我们的研究结果表明,父母和HCPs都积极支持延长DBS卡的二次使用和延长基因检测。然而,除了解决父母和医疗服务提供者的道德问题外,还需要做出更多的努力来提高认识,为制定香港星展银行生物银行和扩展基因检测的政策铺平道路。
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引用次数: 0
Utility of Dried Blood Spots for the Diagnosis of Congenital Cytomegaloviruses within the First 21 Days of Life in a Single Center. 在一个中心使用干血斑诊断出生后21天内的先天性巨细胞病毒。
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2023-08-04 DOI: 10.3390/ijns9030044
Ana Del Valle Penella, Jerry Miller, Ryan Rochat, Gail Demmler-Harrison

In this retrospective study, we aimed to evaluate the performance of dried-blood-spot (DBS) testing as a diagnostic method for the congenital cytomegalovirus (cCMV). We reviewed the medical records and DBS test results of 89 patients who had also undergone diagnostic cCMV testing within the first 21 days of life. The DBS test had a sensitivity of 83.9%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 73%. Patients with a true-positive DBS had a higher median level of CMV in blood according to PCR than those with a false-negative result. Additionally, all patients with cCMV and hearing loss had a positive DBS test, with higher median viremia levels observed in those with hearing loss compared to those without a CMV PCR blood test. These results suggest that DBS-based testing is useful in the diagnosis of cCMV, and its performance may be related to levels of CMV viremia. DBS testing accurately identified those patients with congenital/early onset hearing loss and those at risk of developing late-onset hearing loss.

在这项回顾性研究中,我们旨在评估干血斑(DBS)检测作为先天性巨细胞病毒(cCMV)诊断方法的性能。我们回顾了89例患者的医疗记录和DBS测试结果,这些患者在出生后的前21天内也进行了诊断性cCMV测试。DBS检测的敏感性为83.9%,特异性为100%,阳性预测值为100%,阴性预测值为73%。根据PCR结果,DBS真阳性的患者血液中巨细胞病毒的中位水平高于假阴性的患者。此外,所有cCMV和听力损失患者的DBS检测均为阳性,听力损失患者的中位病毒血症水平高于未进行CMV PCR血液检测的患者。这些结果表明,基于dbs的检测在cCMV的诊断中是有用的,其性能可能与CMV病毒血症水平有关。DBS测试准确地识别出先天性/早发性听力损失患者和有发展为晚发性听力损失风险的患者。
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International Journal of Neonatal Screening
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