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Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia. 沙特阿拉伯卫生部利雅得第二卫生组 40965 名新生儿先天性代谢异常和内分泌失调的发病率。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-10-16 DOI: 10.3390/ijns10040072
Abdullah S Alshehri, Abdul A Peer-Zada, Abeer A Algadhi, Abdulwahed Aldehaimi, Mohammed A Saleh, Aziza M Mushiba, Eissa A Faqeih, Ali M AlAsmari

Inborn errors of metabolism (IEM) and endocrine disorders are common genetic conditions in the Saudi population with the incidence rate often underestimated. Newborn screening (NBS) using various disease panels provides the first line in the early detection and intervention among infants with a high risk of IEM. Here we aim to assess the incidence of screening disorders and provide an overview of the NBS program at the Ministry of Health Tertiary Care King Fahad Medical City. Dried blood spots (DBS) from 40,965 newborn infants collected on the second day after birth were analyzed for 20 disorders. The total number of positive screen ("repeat") samples over 10 years was about 1% (n = 382/40,965). The true positive result rate was 15.3% (n = 46/301) with the recall rates of individual disorders ranging from 0.26% (95% CI, 0.17-0.69) to 2.6% (95% CI, 2.19-3.05). The false positive result rate was 84.7% (n = 255/301) with biotinidase activity found to be the most common cause of the second sample repeat. The overall incidence of the screened diseases was 1:891 (95% CI, 11.61-12.47). CH and CAH are the most prevalent among endocrine disorders with an incidence of 1:4097 (95% CI, 2.19-3.05), and PA and ASA among the IEM with an incidence of 1:10,241 (95% CI, 0.09-0.95). In summary, we provide updated data and our experience on the incidence of various IEM and endocrine disorders among the Saudi population, highlight the role of false positive results of biotinidase activity that can increase the recall rate and lead to overestimation of the incidence data, and recommend multicenter studies to achieve a successful national NBS program.

先天性代谢错误(IEM)和内分泌失调是沙特人口中常见的遗传疾病,其发病率往往被低估。新生儿筛查(NBS)使用各种疾病面板,是早期发现和干预 IEM 高风险婴儿的第一道防线。在此,我们旨在评估筛查疾病的发病率,并概述法赫德国王医疗城卫生部三级医疗机构的 NBS 项目。我们对出生后第二天采集的 40965 名新生儿的干血斑(DBS)进行了分析,共筛查出 20 种疾病。10 年间,阳性筛查("重复")样本总数约为 1%(n = 382/40965)。真阳性结果率为 15.3%(n = 46/301),个别疾病的重复率从 0.26%(95% CI,0.17-0.69)到 2.6%(95% CI,2.19-3.05)不等。假阳性结果率为 84.7%(n = 255/301),其中生物素酶活性是导致第二个样本重复的最常见原因。所筛查疾病的总体发病率为 1:891(95% CI,11.61-12.47)。在内分泌疾病中,CH 和 CAH 的发病率最高,为 1:4097 (95% CI, 2.19-3.05);在 IEM 中,PA 和 ASA 的发病率为 1:10,241 (95% CI, 0.09-0.95)。总之,我们提供了有关沙特人口中各种 IEM 和内分泌失调症发病率的最新数据和经验,强调了生物素酶活性假阳性结果的作用,这种假阳性结果会增加召回率并导致高估发病率数据,我们还建议开展多中心研究,以成功实施国家 NBS 计划。
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引用次数: 0
A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II. 关于全球新生儿黏多醣症 II 筛查现状的系统性文献综述。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-10-10 DOI: 10.3390/ijns10040071
Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S Yee, Barbara K Burton

A systematic literature review was conducted to determine the global status of newborn screening (NBS) for mucopolysaccharidosis (MPS) II (Hunter syndrome; OMIM 309900). Electronic databases were searched in July 2023 for articles referencing NBS for lysosomal storage diseases: 53 featured MPS II. Until recently, only Taiwan and two US states (Illinois and Missouri) formally screened newborns for MPS II, although pilot programs have been conducted elsewhere (Japan, New York, and Washington). In 2022, MPS II was added to the US Recommended Uniform Screening Panel, with increased uptake of NBS anticipated across the USA. While the overall MPS II birth prevalence, determined from NBS initiatives, was higher than in previous reports, it was lower in the USA (approximately 1 in 73,000 according to recent studies in Illinois and Missouri) than in Asia (approximately 1 in 15,000 in Japan). NBS programs typically rely on tandem mass spectrometry quantification of iduronate-2-sulfatase activity for first-tier testing. Diagnosis is often confirmed via molecular genetic testing and/or biochemical testing but may be complicated by factors such as pseudodeficiency alleles and variants of unknown significance. Evidence relating to MPS II NBS is lacking outside Taiwan and the USA. Although broad benefits of NBS are recognized, few studies specifically explored the perspectives of families of children with MPS II.

为确定粘多糖病 (MPS) II(亨特综合征;OMIM 309900)新生儿筛查 (NBS) 的全球现状,我们进行了一项系统性文献综述。2023 年 7 月,我们在电子数据库中检索了有关溶酶体贮积疾病 NBS 的文章:53 篇文章涉及 MPS II。直到最近,只有台湾和美国的两个州(伊利诺伊州和密苏里州)正式对新生儿进行 MPS II 筛查,尽管其他地方(日本、纽约州和华盛顿州)也开展了试点项目。2022 年,MPS II 被列入美国推荐的统一筛查小组,预计全美 NBS 的接受率将会提高。根据 NBS 计划确定的 MPS II 出生率总体高于之前的报告,但美国(根据伊利诺伊州和密苏里州的最新研究,约为 73,000 分之 1)低于亚洲(日本约为 15,000 分之 1)。NBS 项目通常依靠串联质谱法量化仲嘌呤核苷酸-2-硫酸酯酶活性进行一级检测。诊断通常通过分子基因检测和/或生化检测来确认,但可能会因假性缺陷等位基因和意义不明的变异等因素而变得复杂。在台湾和美国之外,还缺乏与 MPS II NBS 相关的证据。虽然 NBS 的广泛益处已得到认可,但很少有研究专门探讨 MPS II 患儿家庭的观点。
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引用次数: 0
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands. 荷兰减少先天性甲状腺功能减退症、先天性肾上腺皮质增生症和枫糖浆尿症新生儿筛查不确定和假阳性结果的价值。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-10-08 DOI: 10.3390/ijns10040070
Rosalie C Martens, Anita Boelen, Michèle H van der Kemp, Annet M Bosch, Eveline M Berghout, Gert Weijman, Nitash Zwaveling-Soonawala, Rendelien K Verschoof-Puite, Robert de Jonge, Sabine E Hannema, Judith E Bosmans, Annemieke C Heijboer

Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH) and Maple Syrup Urine Disease (MSUD) in the Dutch NBS program. The current study estimates the financial consequences of these improved algorithms related to the reduction in inconclusive results and false-positives. For each improved algorithm, the care pathway of an inconclusive/false-positive result was analyzed. The costs associated with the improvements, based on the change in inconclusive results/false-positives, were assessed to estimate the cost reduction per year. The improvements resulted in a reduction of inconclusive results and/or false-positives, without increasing false-negatives. For CH, false positives decreased by 26 per year with a related cost reduction of EUR 31,156. For CAH, 95 second heel punctures and seven false-positives per year were avoided, leading to a related cost reduction of EUR 7340. For MSUD, five false-positives per year were avoided with a related cost reduction of EUR 11,336. The improved screening algorithms led to a cost reduction of EUR 49,832 annually. Together with the known negative psychosocial effects associated with an inconclusive or false-positive NBS result, these results highlight the importance of improving NBS algorithms.

新生儿筛查(NBS)的不确定和假阳性结果会给父母带来压力,并增加医疗开支。通过改进 NBS 算法可以减少这些结果。荷兰新生儿筛查项目最近针对先天性甲状腺功能减退症(CH)、先天性肾上腺皮质增生症(CAH)和枫糖浆尿症(MSUD)进行了改进。本研究估算了这些改进算法在减少不确定结果和假阳性结果方面的经济效益。针对每种改进算法,分析了不确定/假阳性结果的护理路径。根据不确定结果/假阳性结果的变化,评估了与改进相关的成本,以估算每年减少的成本。改进后,不确定结果和/或假阳性结果减少,而假阴性结果没有增加。对于 CH,假阳性结果每年减少 26 例,相关费用减少 31,156 欧元。对于 CAH,每年可避免 95 次足跟穿刺和 7 例假阳性,相关费用减少 7340 欧元。对于 MSUD,每年可避免 5 例假阳性结果,相关成本减少 11336 欧元。改进后的筛查算法每年可降低成本 49 832 欧元。众所周知,NBS 结果不确定或呈假阳性会对社会心理造成负面影响,因此这些结果凸显了改进 NBS 算法的重要性。
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引用次数: 0
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events. 2015 年至 2022 年加泰罗尼亚地区新生儿镰状细胞病筛查--流行病学及对临床事件的影响。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-10-03 DOI: 10.3390/ijns10040069
José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María Del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia

In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. The SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, p < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, p < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, p < 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, p < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, p < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, p < 0.0001). SCD screening in Catalonia's NBS program has effectively reduced morbidity and improved affected children's quality of life.

2015 年,加泰罗尼亚在其新生儿筛查(NBS)计划中引入了镰状细胞病(SCD)筛查,以及青霉素、羟基脲和抗肺炎球菌疫苗接种等标准治疗。很少有研究评估了引入 NBS 项目对 SCD 患者的临床影响。我们分析了加泰罗尼亚地区 SCD 和相关血红蛋白病的发病率,以及引入 NBS 后临床事件的变化。我们对 2015 年至 2022 年间的 506996 名新生儿进行了筛查,开展了一项回顾性多中心研究,其中包括 100 名筛查(SG)和 95 名未筛查(UG)的 SCD 患者,并分析了他们出生后头六年中与 SCD 相关的临床事件。我们确诊了 160 例 SCD,发病率为每 3169 名新生儿中就有 1 例。SG患者确诊时的中位年龄明显较低(0.1岁对1.68岁,P<0.0001),并较早开始青霉素预防(0.12岁对1.86岁,P<0.0001)和羟基脲治疗(1.42岁对4.5岁,P<0.0001)。每随访一年,SG 发生的 SCD 相关临床事件(血管闭塞性危象、急性胸部综合征、可能由细菌引起的感染、需要输血的急性贫血、急性脾脏嵌塞和病理性经颅多普勒超声检查)的中位数较少(0.19 vs. 0.77,p < 0.0001),每年急诊就诊次数减少(0.37 vs. 0.76,p < 0.0001),住院次数减少(0.33 vs. 0.72,p < 0.0001)。加泰罗尼亚 NBS 计划中的 SCD 筛查有效降低了发病率,提高了受影响儿童的生活质量。
{"title":"Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.","authors":"José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María Del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia","doi":"10.3390/ijns10040069","DOIUrl":"https://doi.org/10.3390/ijns10040069","url":null,"abstract":"<p><p>In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. The SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, <i>p</i> < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, <i>p</i> < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, <i>p</i> < 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, <i>p</i> < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, <i>p</i> < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, <i>p</i> < 0.0001). SCD screening in Catalonia's NBS program has effectively reduced morbidity and improved affected children's quality of life.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China. 中国合肥通过新生儿筛查发现的短链酰基-CoA脱氢酶缺乏症的患病率和突变分析。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-10-02 DOI: 10.3390/ijns10040068
Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identified through screening. A total of 782,930 newborns were screened for SCADD in Hefei Neonatal Screening Center from January 2016 to December 2023. The blood samples from newborns were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked using next-generation gene sequencing for diagnosis. Sanger sequencing was used to verify the mutation site for patients with SCADD and their parents. A total of 21 SCADD cases were confirmed, with an incidence rate of 1/37,282. Genetic mutations were identified in all 21 cases, including 15 cases of compound heterozygous variation and 6 cases of homozygous variation. Twenty-one different mutation types and forty-two mutation sites were discovered, with the most frequent mutation being c.1031A>G, accounting for 21.43% (9/42), followed by c.1130C>T, accounting for 16.67% (7/42). Our findings expand the SCADD mutational spectra. c. 1031A>G and c.1130C>T are the common mutation sites for SCADD genes in newborns. SCADD diagnosed through NBS is primarily a benign condition, and early diagnosis is not necessarily essential.

短链酰基-CoA脱氢酶缺乏症(SCADD)是一种常染色体隐性遗传的线粒体脂肪酸氧化先天性错误,其生化和遗传特征变化很大。本研究旨在估算通过筛查发现的新生儿中 SCADD 的患病率和遗传特征。自2016年1月至2023年12月,合肥新生儿筛查中心共对782930名新生儿进行了SCADD筛查。新生儿血样采用串联质谱法(MS/MS)进行检测。对疑似 SCADD 的新生儿采用新一代基因测序法进行复查确诊。对 SCADD 患者及其父母使用 Sanger 测序法验证基因突变位点。共有 21 例 SCADD 病例得到确诊,发病率为 1/37,282。在所有 21 个病例中都发现了基因突变,包括 15 例复合杂合变异和 6 例同源变异。发现了21种不同的突变类型和42个突变位点,其中最常见的突变是c.1031A>G,占21.43%(9/42),其次是c.1130C>T,占16.67%(7/42)。c.1031A>G 和 c.1130C>T 是新生儿 SCADD 基因的常见突变位点。通过 NBS 诊断出的 SCADD 主要是一种良性疾病,早期诊断并不一定是必要的。
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引用次数: 0
A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria. 尼日利亚镰状细胞病新生儿筛查新计划。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-09-30 DOI: 10.3390/ijns10040067
Aisha A Galadanci, Umma A Ibrahim, Yvonne Carroll, Yusuf D Jobbi, Zubaida L Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J Klein, Michael R DeBaun

Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting.

在撒哈拉以南非洲地区,新生儿镰状细胞病(SCD)筛查很少。尼日利亚卡诺的阿米努-卡诺教学医院(Aminu Kano Teaching Hospital,AKTH)的领导层在当地宗教当局的支持下,建立了一项开创性的 SCD 新生儿筛查项目,该项目已成为孕妇及其新生儿的标准医疗服务。我们的项目包括:(1)在产前门诊为所有孕妇提供产前遗传咨询;(2)新生儿筛查;(3)为确诊为 SCD 和 SCT 的新生儿父母提供产后遗传咨询;(4)将患有 SCD 的新生儿转介到 SCD 综合护理门诊进行 3 个月的随访。从 2020 年 9 月至 2023 年 12 月,该团队在 AKTH 筛查了 7530 名 SCD 婴儿,发现 126 名(1.7%)婴儿患有 SCD,1546 名(20.5%)婴儿患有 SCT。其中,93 名(73.8%)患有 SCD 的新生儿接受了个体化遗传咨询,43 名(46%)在 3 个月前被转诊至 SCD 综合护理门诊。为 778 名(50.3%)被确认患有 SCT 的新生儿的父母提供了集体遗传咨询。目前,AKTH 的 SCD 新生儿筛查已成为标准护理,这表明在低收入环境中持续开展 SCD 新生儿筛查项目,提供产前和产后遗传咨询以及全面的 SCD 护理是可行的。
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引用次数: 0
Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66". 回复 Bouva 等人对 "Dijkstra 等人.酪氨酸血症 1 型假阴性新生儿筛查--重新评估琥珀酰丙酮新生儿筛查的必要性 "的评论。Int.J. Neonatal Screen.2023, 9, 66".
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-09-24 DOI: 10.3390/ijns10040066
Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, Frank A J A Bodewes, Dennis K Bos, József Zsiros, Koen J van Aerde, Klaas Koop, Francjan J van Spronsen, Charlotte M A Lubout

We thank the authors for their comments [...].

感谢作者们提出的意见[......]。
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引用次数: 0
Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. 评论 Dijkstra 等人:《酪氨酸血症 1 型新生儿筛查假阴性--重新评估琥珀酰丙酮新生儿筛查的必要性》。Int.J. Neonatal Screen.2023, 9, 66.
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-09-24 DOI: 10.3390/ijns10040065
Marelle J Bouva, Rose E Maase, Ruurd M van Elburg

The assessment of newborn screening (NBS) algorithms' performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative referrals are often only discovered many years after the screening has taken place [...].

评估新生儿筛查 (NBS) 算法的性能以确保质量改进是一个持续的过程:假阳性转诊可在短期内实现优化,但假阴性转诊往往在筛查进行多年后才被发现[......]。
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引用次数: 0
Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey. 新生儿筛查研究的伦理前沿:NBSTRN ELSI 研究人员需求调查的启示。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-09-19 DOI: 10.3390/ijns10030064
Yekaterina Unnikumaran, Mei Lietsch, Amy Brower

From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate groundbreaking research in newborn screening (NBS), public health, rare disease, and genomics. Over its sixteen years, NBSTRN developed into a significant international network, supporting innovative research on novel technologies to screen, diagnose, treat, manage, and understand the natural history of more than 280 rare diseases. The NBSTRN tools and resources were used by a variety of stakeholders including researchers, clinicians, state NBS programs, parents, families, and policy makers. Resources and expertise for the newborn screening community in ethical, legal, and social issues (ELSI) has been an important area of focus for the NBSTRN and this includes efforts across the NBS system from pilot studies of candidate conditions to public health implementation of screening for new conditions, and the longitudinal follow-up of NBS-identified individuals to inform health outcomes and disease understanding. In 2023, the NBSTRN conducted a survey to explore ELSI issues in NBS research, specifically those encountered by the NBS community. Since NBS research involves collaboration among researchers, state NBS programs, clinicians, and families, the survey was broadly designed and disseminated to engage all key stakeholders. With responses from 88 members of the NBS community, including researchers and state NBS programs, the survey found that individuals rely most on institutional and collegial resources when they encounter ELSI questions. Most survey responses ranked privacy as extremely or very important in NBS research and identified the need for policies that address informed consent in NBS research. The survey results highlight the need for improved collaborative resources and educational programs focused on ELSI for the NBS community. The survey results inform future efforts in ELSI and NBS research in the United States (U.S.) and the rest of the world, including the development of policies and expanded ELSI initiatives and tools that address the needs of all NBS stakeholders.

从 2008 年到 2024 年,新生儿筛查转化研究网络(NBSTRN)作为美国国家儿童健康与人类发展研究所(NICHD)亨特-凯利新生儿筛查项目的一部分,成为促进新生儿筛查(NBS)、公共卫生、罕见病和基因组学领域突破性研究的强大基础设施。十六年来,NBSTRN 已发展成为一个重要的国际网络,支持对新型技术的创新研究,以筛查、诊断、治疗、管理和了解 280 多种罕见病的自然病史。研究人员、临床医生、各州新生儿筛查项目、家长、家庭和政策制定者等各类利益相关者都在使用 NBSTRN 工具和资源。为新生儿筛查社区提供伦理、法律和社会问题(ELSI)方面的资源和专业知识一直是 NBSTRN 重点关注的重要领域,这包括整个 NBS 系统从候选病症的试点研究到新病症筛查的公共卫生实施,以及对 NBS 确定的个体进行纵向随访,以便为健康结果和疾病认识提供信息。2023 年,NBSTRN 开展了一项调查,以探讨 NBS 研究中的 ELSI 问题,特别是 NBS 社区遇到的问题。由于 NBS 研究涉及研究人员、州 NBS 项目、临床医生和家庭之间的合作,因此调查的设计和传播范围很广,以吸引所有主要利益相关者的参与。调查得到了包括研究人员和各州 NBS 项目在内的 88 名 NBS 社区成员的回复,调查发现,当遇到 ELSI 问题时,个人最依赖的是机构和同事资源。大多数调查反馈都认为隐私在国家生物统计研究中极为重要或非常重要,并认为需要制定政策来解决国家生物统计研究中的知情同意问题。调查结果凸显了改善协作资源和教育计划的必要性,这些资源和计划的重点是针对国家统计局群体的 ELSI 问题。调查结果为美国和世界其他国家今后在 ELSI 和 NBS 研究方面的工作提供了参考,包括制定政策和扩大 ELSI 计划与工具,以满足所有 NBS 利益相关者的需求。
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引用次数: 0
Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates. 管理患病和早产新生儿的新生儿筛查重复采集。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-09-16 DOI: 10.3390/ijns10030063
Ronda F Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A O'Connell, James Pitt

Some preterm and sick neonates have altered biochemical profiles and follow-up newborn screening (NBS) collections are recommended. The Victorian NBS program historically recommended repeat collections for babies with birth weight < 1500 g (managed by the maternity service provider) and 3 weeks post-transfusion (managed by the laboratory). We aimed to determine adherence to current guidelines and review the guidelines to improve NBS performance. To do this, we audited data from 348,584 babies between January 2018 and June 2022. Babies with a recorded birth weight of <1500 g were filtered for inclusion. For the overall review and visualization of the protocol, we sourced information from the literature, our professional society and tertiary hospital services. A total of 2647 babies had a birth weight recorded between 200 and 1499 g. Of these, 2036 (77%) had a second sample collected, indicating that >1 in 5 babies were not receiving a follow-up collection. Our timing of repeat collections for transfused babies, requiring a 3-week follow-up collection, was longer than in other Australasian jurisdictions. A new combined "sick-prem protocol" was launched to support repeat collections and after a 1-year review achieved 95% compliance. We recommend NBS laboratories audit preterm and sick neonate repeat collections to ensure appropriate follow-up. This should be supported with a visual process map to aid education and compliance.

一些早产儿和患病新生儿的生化指标会发生变化,因此建议进行后续的新生儿筛查 (NBS) 采集。维多利亚州的新生儿筛查计划历来建议对出生体重小于 1500 克(由产科服务提供商管理)和输血后 3 周(由实验室管理)的婴儿进行重复采集。我们的目标是确定现行指南的遵守情况,并对指南进行审查,以提高 NBS 的绩效。为此,我们审核了 2018 年 1 月至 2022 年 6 月期间 348584 名婴儿的数据。记录出生体重的婴儿中有五分之一未接受后续采集。与澳大拉西亚其他辖区相比,我们对输血婴儿的重复采集时间(需要 3 周的后续采集)更长。为支持重复采集工作,我们推出了一项新的 "病前-病后 "联合协议,经过 1 年的审查,该协议的合规率达到了 95%。我们建议 NBS 实验室对早产儿和患病新生儿的重复采集进行审核,以确保适当的随访。这项工作应辅之以可视化流程图,以帮助开展教育和提高依从性。
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International Journal of Neonatal Screening
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