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Children of Jehovah's witnesses: a review of judicial responses to the refusal of blood transfusion.
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-24 DOI: 10.1136/archdischild-2025-329204
Robert Wheeler, Matthew Formstone

We present 19 judgments of English courts; all that we could find relating to the refusal of blood transfusion by or on behalf of children of Jehovah's Witness families.This provides detailed context to clinicians faced with this dilemma.Our review identifies demographic patterns of applications to the court: the broad separation into infants and capable teenagers; their underlying diagnosis; proximity to majority; prognosis; their independent capability to refuse life-saving treatment. The positions taken by the applicant trusts, the parents, the children themselves and the clinicians seeking permission compulsorily to transfuse also form patterns, together with the judicial response and the demonstrable evolution of judicial thinking.Without these thematic patterns, it would not be possible to provide generic guidance for patients, their families, clinicians or trust managers, as to what factors should be considered when facing the situation where a child or her family is refusing treatment that may save life or prevent irremediable harm.Our conclusions, based on the emerging patterns, including the benefits of centralising clinical judgement relating to compulsory transfusion in paediatric haematology/oncology centres; the suggestion of specific research (including to determine how the judges in these cases reached a conclusion on the individual teenager's capacity to make the choices that they advanced to the court) and avoiding the temptation to seek a rolling or enduring authority to compel transfusion.These and other patterns and conclusions provide guidance as to what should be considered if contemplating an application for judgement in these circumstances.

我们将介绍19个英国法院的判决;我们所能找到的与耶和华见证会家庭的孩子拒绝输血或代表他们输血有关的一切。这为面临这一困境的临床医生提供了详细的背景。我们的审查确定了向法院申请的人口统计模式:婴儿和有能力的青少年的广泛区分;他们的基本诊断;接近多数;预后;他们拒绝救命治疗的独立能力。申请人信托、家长、儿童本人和寻求强制输血许可的临床医生所采取的立场,以及司法反应和司法思维的明显演变,也形成了模式。如果没有这些专题模式,就不可能为患者、其家属、临床医生或信托管理人提供一般性指导,告诉他们在面对儿童或其家庭拒绝可能挽救生命或防止无法弥补的伤害的治疗时应考虑哪些因素。我们的结论,基于新出现的模式,包括集中临床判断在儿科血液学/肿瘤学中心强制输血的好处;建议进行具体的研究(包括确定在这些案件中,法官是如何就青少年的个人选择能力得出结论的),并避免寻求一种滚动的或持久的权威来强制输血。这些模式和其他结论为考虑在这种情况下提出判决申请时应考虑什么提供了指导。
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引用次数: 0
Surge in post-streptococcal glomerulonephritis associated with recent rise in group A streptococcal infection. 链球菌感染后肾小球肾炎的激增与近期A组链球菌感染的上升有关。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-23 DOI: 10.1136/archdischild-2025-329970
Alexander Saunders, Rachel Dale, Nazima Pathan, Dinakantha Kumararatne
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引用次数: 0
Long-term association between the COVID-19 pandemic and language development in children aged 18 months: effect modification by sex, childcare location and family size. COVID-19大流行与18个月儿童语言发展之间的长期关联:性别、托儿地点和家庭规模对效果的影响
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-23 DOI: 10.1136/archdischild-2025-329347
Rumi Matsuo, Naomi Matsumoto, Kazue Nakamura, Toshiharu Mitsuhashi, Takashi Yorifuji

Objective: We evaluated the long-term association between the COVID-19 pandemic and the language development of children aged 18 months by comparing prepandemic and pandemic periods in Japan.

Study design: This repeated cross-sectional study included 39 840 children attending 18-month health check-ups conducted by the Okayama City Public Health Center (January 2017-March 2024). We compared language development indicators before (January 2017-March 2020) and during (April 2020-March 2024) the pandemic, with the latter divided into early (April 2020-March 2022) and late (April 2022-March 2024) periods. The primary outcome was the proportion of children requiring language development follow-up (children who did not meet any one of the three questions on language development). The secondary outcome was the proportion of children who could not say ≥3 meaningful words (one of the three questions). Risk ratios (RRs) and 95% CIs were estimated adjusting for confounders, with subgroup analyses by sex, childcare location (home, nursery school) and family size (≤3, ≥4).

Results: Compared with the prepandemic period, increased RRs were observed during the pandemic: 1.19 (95% CI 1.15 to 1.22) for the primary outcome and 1.16 (95% CI 1.11 to 1.22) for the secondary outcome. RRs were higher in the late than in the early period. Adverse associations were more pronounced in girls than boys, and in children cared for at home.

Conclusion: The long-term association between the pandemic and language development at 18 months suggests the need for more comprehensive support for high-risk families.

目的:通过比较日本COVID-19大流行前和大流行时期,评估COVID-19大流行与18个月儿童语言发展之间的长期关系。研究设计:这项重复横断面研究包括39840名参加冈山市公共卫生中心(2017年1月- 2024年3月)进行的18个月健康检查的儿童。我们比较了大流行前(2017年1月至2020年3月)和期间(2020年4月至2024年3月)的语言发展指标,后者分为早期(2020年4月至2022年3月)和晚期(2022年4月至2024年3月)。主要结果是需要语言发展随访的儿童比例(没有满足关于语言发展的三个问题中的任何一个的儿童)。次要终点是不能说出≥3个有意义的单词(三个问题中的一个)的儿童比例。对混杂因素进行校正后的风险比(rr)和95% ci进行估计,并按性别、托儿地点(家庭、托儿所)和家庭规模(≤3,≥4)进行亚组分析。结果:与大流行前相比,大流行期间观察到的rr增加:主要结局为1.19 (95% CI 1.15至1.22),次要结局为1.16 (95% CI 1.11至1.22)。后期的比率高于前期。不良关联在女孩中比男孩更明显,在家里照顾的孩子中也是如此。结论:大流行与18个月大的语言发展之间的长期联系表明,需要对高危家庭提供更全面的支持。
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引用次数: 0
Acceptability and feasibility of biomarkers of airway eosinophilic inflammation for the management of preschool wheeze: a qualitative study. 气道嗜酸性粒细胞炎症生物标志物在学龄前喘息管理中的可接受性和可行性:一项定性研究。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-21 DOI: 10.1136/archdischild-2025-329433
Andreas Perikleous, Grace Lewis, Sarah-Jane Bowen, Ian Douglas Pavord, Louise Fleming, Andrew Bush, Chris Griffiths

Objective: This study aimed to examine whether biomarker tests-finger-prick, skin-prick and offline fractional exhaled nitric oxide (FeNO)-are acceptable and feasible as a guide to treatment decisions, uniquely combining the perspectives of parents of preschool children with wheeze and healthcare professionals (HCPs) working in National Health Service (NHS) primary care.

Design: Qualitative interview study. Criterion sampling was used to recruit 16 parents from 16 families, and convenience sampling to recruit 16 HCPs (doctors and nurses) from 14 primary care NHS practices. Qualitative data were collected via online one-to-one interviews and focus groups (FGs), conducted on Microsoft Teams, transcribed and thematically analysed within the NVivo software package.

Results: Parents described the biomarker tests as acceptable when they were supported by evidence of effectiveness and empathetic communication from HCPs. Skin-prick testing was the most preferred test by parents as it helped them minimise allergen exposures. HCPs favoured finger-prick and FeNO tidal breathing test due to greater familiarity and feasibility in primary care. Time constraints, cost of devices and training to perform the biomarker tests were reported as barriers to implementation. Both groups agreed that testing frequency should depend on wheeze severity. Finally, a proposed future randomised controlled trial examining whether a biomarker-based approach is superior to the current symptom-based approach was regarded as acceptable and feasible.

Conclusion: Finger-prick, skin-prick and FeNO testing are conditionally acceptable and feasible in clinical practice for preschool wheeze. However, there should be evidence of their effectiveness, empathetic communication between parents and HCPs and tests' cost-effectiveness to support NHS funding.

目的:本研究旨在研究生物标志物测试——手指刺破、皮肤刺破和离线分数呼气一氧化氮(FeNO)——作为治疗决策的指导是否可接受和可行,独特地结合了学龄前喘息儿童父母和国家卫生服务(NHS)初级保健工作的卫生保健专业人员(HCPs)的观点。设计:定性访谈研究。采用标准抽样从16个家庭中招募16名家长,采用便利抽样从14个初级保健NHS实践中招募16名HCPs(医生和护士)。定性数据通过在线一对一访谈和焦点小组(FGs)收集,在微软团队中进行,在NVivo软件包中转录和主题分析。结果:父母认为生物标记测试是可以接受的,当他们有证据支持的有效性和移情沟通从HCPs。皮肤点刺测试是父母最喜欢的测试方法,因为它可以帮助他们最大限度地减少过敏原接触。由于在初级保健中更熟悉和可行,HCPs倾向于手指刺破和FeNO潮汐呼吸试验。据报道,时间限制、设备成本和进行生物标志物测试的培训是实施的障碍。两组都同意测试频率应取决于喘息的严重程度。最后,一项提出的未来随机对照试验被认为是可接受和可行的,该试验旨在检验基于生物标志物的方法是否优于当前基于症状的方法。结论:针刺法、皮肤针刺法和FeNO法在临床有条件地接受和可行。然而,应该有证据证明它们的有效性,父母和医疗服务提供者之间的移情沟通,以及测试的成本效益,以支持NHS的资助。
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引用次数: 0
Is it safe for my patient with congenital long QT syndrome to participate in competitive sports? 我的先天性长QT综合征患者参加竞技运动安全吗?
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-18 DOI: 10.1136/archdischild-2025-328664
Ian Scott Kendall, Andrea Greco, Georgia Sarquella-Brugada, Martin Dempster, Pascal McKeown, Terence Prendiville, Frank Casey
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引用次数: 0
Point-of-care decision rule for antibiotic prescriptions in young children with fever without source: an open cluster randomised trial. 无源发热幼儿抗生素处方的护理点决策规则:一项开放聚类随机试验
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-17 DOI: 10.1136/archdischild-2025-329438
David Malorey, Elsa Tavernier, Anne Drouard, Bénédicte Vrignaud, Marion Bailhache, Gael Guyon, Luigi Titomanlio, Camille Bréhin, Lydie Abalea, Alain Gervaix, Romain Basmaci, François Dubos, Antoine Tran, Marie Desgranges, Elise Launay, Christele Gras-Leguen

Objective: To evaluate whether a point-of-care decision rule could safely reduce antibiotic prescriptions in children presenting with fever without source in emergency departments.

Design: Open cluster randomised clinical trial (registered on ClinicalTrials.gov).

Setting: Twenty-five European paediatric emergency departments participated from November 2018 to October 2021.

Patients: Children aged 6 days to 36 months presenting with acute fever without source.

Interventions: During the first year, all centres (or clusters) followed their usual care protocols. In the second year, centres were randomised 1:1 to either continue usual care or to adopt the decision rule based on age, clinical symptoms, urine analysis and point-of-care procalcitonin measurements. In the third year, all centres applied the decision rule.

Main outcomes and measures: The primary outcome was antibiotic exposure within 15 days. Secondary outcomes included morbidity and mortality assessed at day 15.

Results: Among 4882 children (median age: 3 months, IQR 1-14), 2440 were in the usual care group and 2442 in the decision rule group. Serious bacterial infections occurred in 766 (15.7%) children, and invasive bacterial infections in 67 (1.4%). In the intention-to-treat analysis, 927 children (38.0%) received antibiotics within 15 days in the usual care group, compared with 641 (26.2%) in the decision rule group (OR 0.57; 95% CI 0.43 to 0.75; p<0.001). Morbidity and mortality rates were similar between groups (OR 0.83; 95% CI 0.57 to 1.22; p=0.34).

Conclusions: The decision rule safely reduced unnecessary antibiotic use in young children with fever without source in emergency departments.

Trial registration number: NCT03607162.

目的:评价定点护理决策规则是否能安全减少急诊无源发热患儿的抗生素处方。设计:开放群随机临床试验(在ClinicalTrials.gov注册)。设置:2018年11月至2021年10月,25个欧洲儿科急诊科参与。患者:6天至36个月的儿童,无病源急性发热。干预措施:在第一年,所有中心(或组)都遵循他们的常规护理方案。第二年,中心按1:1随机分组,要么继续常规护理,要么采用基于年龄、临床症状、尿液分析和护理点降钙素原测量的决策规则。在第三年,所有中心都采用了决策规则。主要结局和措施:主要结局是15天内的抗生素暴露。次要结局包括在第15天评估的发病率和死亡率。结果:4882例患儿(中位年龄:3个月,IQR 1-14)中,常规护理组2440例,决策规则组2442例。严重细菌感染766例(15.7%),侵袭性细菌感染67例(1.4%)。意向治疗分析中,常规护理组的927名儿童(38.0%)在15天内接受了抗生素治疗,而决策规则组的641名儿童(26.2%)接受了抗生素治疗(OR 0.57; 95% CI 0.43 ~ 0.75)。结论:决策规则安全减少了急诊科无源发热幼儿不必要的抗生素使用。试验注册号:NCT03607162。
{"title":"Point-of-care decision rule for antibiotic prescriptions in young children with fever without source: an open cluster randomised trial.","authors":"David Malorey, Elsa Tavernier, Anne Drouard, Bénédicte Vrignaud, Marion Bailhache, Gael Guyon, Luigi Titomanlio, Camille Bréhin, Lydie Abalea, Alain Gervaix, Romain Basmaci, François Dubos, Antoine Tran, Marie Desgranges, Elise Launay, Christele Gras-Leguen","doi":"10.1136/archdischild-2025-329438","DOIUrl":"https://doi.org/10.1136/archdischild-2025-329438","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate whether a point-of-care decision rule could safely reduce antibiotic prescriptions in children presenting with fever without source in emergency departments.</p><p><strong>Design: </strong>Open cluster randomised clinical trial (registered on ClinicalTrials.gov).</p><p><strong>Setting: </strong>Twenty-five European paediatric emergency departments participated from November 2018 to October 2021.</p><p><strong>Patients: </strong>Children aged 6 days to 36 months presenting with acute fever without source.</p><p><strong>Interventions: </strong>During the first year, all centres (or clusters) followed their usual care protocols. In the second year, centres were randomised 1:1 to either continue usual care or to adopt the decision rule based on age, clinical symptoms, urine analysis and point-of-care procalcitonin measurements. In the third year, all centres applied the decision rule.</p><p><strong>Main outcomes and measures: </strong>The primary outcome was antibiotic exposure within 15 days. Secondary outcomes included morbidity and mortality assessed at day 15.</p><p><strong>Results: </strong>Among 4882 children (median age: 3 months, IQR 1-14), 2440 were in the usual care group and 2442 in the decision rule group. Serious bacterial infections occurred in 766 (15.7%) children, and invasive bacterial infections in 67 (1.4%). In the intention-to-treat analysis, 927 children (38.0%) received antibiotics within 15 days in the usual care group, compared with 641 (26.2%) in the decision rule group (OR 0.57; 95% CI 0.43 to 0.75; p<0.001). Morbidity and mortality rates were similar between groups (OR 0.83; 95% CI 0.57 to 1.22; p=0.34).</p><p><strong>Conclusions: </strong>The decision rule safely reduced unnecessary antibiotic use in young children with fever without source in emergency departments.</p><p><strong>Trial registration number: </strong>NCT03607162.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145773267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inconsistency of infant caretakers' visual exposome with safe infant sleep recommendations: a systematic review and meta-analysis. 婴儿看护人的视觉暴露与婴儿安全睡眠建议的不一致:一项系统回顾和荟萃分析。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-15 DOI: 10.1136/archdischild-2025-328893
Sophie T Brouard, Yaël Pinhas, Jérémie F Cohen, Rachel Y Moon, Floortje Kanits, Sabine Plancoulaine, Anne-Laure Sellier, Inge Harrewijn, Christèle Gras-Le Guen, Martin Chalumeau

Objective: To assess the proportion of pictures of sleeping infants or infant sleep environments that are inconsistent with safe infant sleep recommendations (SISRs) in the visual exposome of infant caretakers.

Design: A systematic review and meta-analysis.

Data sources and study selection: In November 2023, we searched PubMed, Scopus, Web of Science and Google Scholar to identify studies evaluating the level of inconsistency between SISRs and pictures in public spaces. The risk of bias of included studies was assessed with a customised version of Hoy's tool for prevalence studies. Random-effects meta-analyses were used to obtain summary estimates of the proportion of pictures inconsistent with SISRs.

Results: We screened 1380 records and included 7 peer-reviewed articles reporting studies conducted between 2008 and 2023 that analysed pictures found in parenting magazines, online and print newspapers, baby diaper packaging, commercial stock photography websites and Instagram. The overall risk of bias was low. Among the 5442 pictures depicting sleeping infants or infant sleep environments, summary estimates of the proportion of inconsistencies with SISRs were 37% for a non-supine sleeping position, 6% for a soft sleeping surface, 8% for sharing the sleeping surface, 15% for an unsafe crib, 73% for soft objects or loose bedding, 89% for no pacifier use, 17% for a covered head, and 89% for at least one SISR inconsistency.

Conclusions: Infant caretakers' visual exposome is greatly inconsistent with SISRs. Given the evidence in support that pictures affecting human behaviour, these results should serve as a call to action for stakeholders and legislators.

目的:评估婴儿看护人视觉暴露中不符合婴儿安全睡眠建议(SISRs)的睡眠婴儿或婴儿睡眠环境图片的比例。设计:系统回顾和荟萃分析。数据来源和研究选择:2023年11月,我们检索了PubMed、Scopus、Web of Science和b谷歌Scholar,以确定评估公共空间sisr与图片不一致程度的研究。纳入研究的偏倚风险用Hoy的流行病学研究工具的定制版本进行评估。随机效应荟萃分析用于获得与SISRs不一致的图片比例的汇总估计。结果:我们筛选了1380条记录,包括7篇同行评议的文章,这些文章报告了2008年至2023年间进行的研究,分析了育儿杂志、在线和印刷报纸、婴儿尿布包装、商业库存照片网站和Instagram上的图片。总体偏倚风险较低。在5442张描述睡眠婴儿或婴儿睡眠环境的图片中,对与SISR不一致的比例的总结估计是,非平卧睡姿占37%,柔软的睡眠表面占6%,共享睡眠表面占8%,不安全的婴儿床占15%,柔软的物体或松散的床上用品占73%,89%的人没有使用安抚奶嘴,17%的人盖着头,89%的人至少有一个SISR不一致。结论:幼儿看护人的视觉暴露与sisr有很大的不一致。鉴于有证据支持图片影响人类行为,这些结果应成为利益攸关方和立法者采取行动的呼吁。
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引用次数: 0
Parents' capacity to make decisions for their children. 父母为孩子做决定的能力。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-15 DOI: 10.1136/archdischild-2025-328961
Robert Wheeler
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引用次数: 0
Safeguarding deaf children: how to make a VASST difference. 保护失聪儿童:如何发挥巨大作用。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-15 DOI: 10.1136/archdischild-2025-328542
Roohi Shrivastava, Chrysa Spyridakou
{"title":"Safeguarding deaf children: how to make a VASST difference.","authors":"Roohi Shrivastava, Chrysa Spyridakou","doi":"10.1136/archdischild-2025-328542","DOIUrl":"10.1136/archdischild-2025-328542","url":null,"abstract":"","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":"98-99"},"PeriodicalIF":3.2,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145399610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. 在荷兰,21-脱氧皮质醇作为先天性肾上腺增生新生儿筛查的二级测试:两年评估。
IF 3.2 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-15 DOI: 10.1136/archdischild-2025-328929
Anouk Olthof, Marelle J Bouva, Hedi L Claahsen-van der Grinten, Dineke Westra, Eugènie Dekkers, Annemieke C Heijboer, Sabine E Hannema, Anita Boelen

Objective: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an inherited adrenal steroid synthesis disorder included in Dutch newborn screening (NBS) since 2002. Screening involves measuring 17-hydroxyprogesterone (17-OHP) in dried blood spots (DBS) with gestational age-adjusted cut-offs. Since October 2021, a second-tier 21-deoxycortisol (21-DF) test has replaced the 17-OHP measurement in a second heel prick after inconclusive results. This study evaluates the performance of the second-tier test from 1 October 2021 to 30 September 2023.

Design: 17-OHP was measured by immunoassay in regional NBS laboratories. DBS with inconclusive and positive 17-OHP results was sent to Amsterdam UMC for 21-DF measurement by liquid chromatography tandem mass spectrometry. Genetic analysis of CYP21A2, CYP11B1, POR and HSD3B2 was performed on DBS from newborns with false-positive second-tier results.

Results: Over 2 years, 21-DF was measured in DBS of 147 newborns (=0.04%). Twenty newborns were directly referred to a paediatric endocrinologist based on positive 17-OHP results: 15 had a positive 21-DF and were diagnosed with classical CAH (genetically confirmed), while five were first-tier false-positives. Of 127 newborns with inconclusive 17-OHP results, three had a positive 21-DF and were referred but not diagnosed with CAH: second-tier false-positives. In total, 8/23 referred newborns were false-positives. Genetic analysis of six false-positive second-tier DBS showed pathogenic CYP21A2 variants in five.

Conclusions: The modified protocol improved CAH screening by preventing 127 heel pricks in 2 years and reducing unnecessary referrals (currently 2.4%, previously 7.7%). 5/6 false-positive second-tier tests were most likely due to non-classical CAH. Further optimisation of cut-offs may prevent these false-positives.

目的:先天性肾上腺皮质增生症(CAH)是一种由21-羟化酶缺乏引起的遗传性肾上腺类固醇合成障碍,自2002年以来被纳入荷兰新生儿筛查(NBS)。筛选包括测量17-羟孕酮(17-OHP)在干血斑(DBS)与胎龄调整切断。自2021年10月以来,由于结果不确定,第二级21-脱氧皮质醇(21-DF)测试取代了17-OHP测试。本研究评估了2021年10月1日至2023年9月30日期间二级测试的表现。设计:17-OHP在区域NBS实验室采用免疫分析法测定。17-OHP阳性结果不确定的DBS被送到阿姆斯特丹UMC,用液相色谱串联质谱法测定21-DF。对二级假阳性的新生儿DBS进行CYP21A2、CYP11B1、POR和HSD3B2基因分析。结果:2年内147例新生儿DBS检测到21-DF(=0.04%)。根据17-OHP阳性结果,20名新生儿被直接转介给儿科内分泌学家:15名21-DF阳性并被诊断为典型CAH(基因证实),而5名为一级假阳性。在127名17-OHP结果不确定的新生儿中,3名21-DF阳性,转诊但未诊断为CAH:二级假阳性。总共有8/23的转诊新生儿为假阳性。6例假阳性的二线DBS患者的遗传分析显示,5例患者的CYP21A2变异具有致病性。结论:修改后的方案改善了CAH筛查,2年内预防了127例脚跟刺痛,减少了不必要的转诊(目前为2.4%,以前为7.7%)。5/6假阳性的二级试验最有可能是由于非经典CAH。进一步优化截止可能会防止这些误报。
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引用次数: 0
期刊
Archives of Disease in Childhood
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