International Journal of Neonatal Screening最新文献

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American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs. 美国医学遗传学和基因组学学院 ACT 表是各州新生儿筛查计划的重要资源。
IF 4
International Journal of Neonatal Screening Pub Date : 2024-11-19 DOI: 10.3390/ijns10040075
Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana
{"title":"American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs.","authors":"Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana","doi":"10.3390/ijns10040075","DOIUrl":"10.3390/ijns10040075","url":null,"abstract":"<p><p>The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening (NBS) programs. They allow NBS programs to be able to provide up-to-date, just-in-time disorder information to primary care providers (PCPs). Their continued availability is necessary to ensure that all babies identified by newborn screening receive appropriate evaluation and care.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709552","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
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified. DNAJC12 缺乏症,一种通过新生儿筛查发现的新疾病:一个病例说明和一种新型变异体的鉴定。
IF 4
International Journal of Neonatal Screening Pub Date : 2024-11-19 DOI: 10.3390/ijns10040074
Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung
{"title":"DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.","authors":"Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung","doi":"10.3390/ijns10040074","DOIUrl":"10.3390/ijns10040074","url":null,"abstract":"<p><p>DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous disorder is not fully understood, and the optimal treatment strategy remains to be elucidated. The global or regional incidence of the disease is yet to be estimated. Here, we report the first individual diagnosed with DNAJC12 deficiency in Hong Kong; the condition was picked up by newborn screening due to hyperphenylalaninemia after ruling out phenylalanine hydroxylase deficiency and other tetrahydrobiopterin related disorders. Compound heterozygous variants in the <i>DNAJC12</i> gene were identified, which included a novel missense change and a nonsense pathogenic variant. Treatment with neurotransmitter precursors (tetrahydrobiopterin, levodopa, and oxitriptan) was initiated at four months of age, and dietary protein restriction was started at four years and six months of age. He remains asymptomatic at four and a half years of age, apart from having mildly impaired socio-communication and language development. In this report, we discuss the current diagnostic approach to hyperphenylalaninemia in newborn screening and the uncertainties that exist in the clinical outcome from earlier detection, treatment, and monitoring of DNAJC12-deficiency patients.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709576","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
Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences. 无症状 X-连锁 ALD 诊断和监测的心理影响:对患者和家长经历的小型定性研究。
IF 4
International Journal of Neonatal Screening Pub Date : 2024-10-24 DOI: 10.3390/ijns10040073
Cecilie S Videbæk, Sabine W Grønborg, Allan M Lund, Mette L Olesen
{"title":"Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.","authors":"Cecilie S Videbæk, Sabine W Grønborg, Allan M Lund, Mette L Olesen","doi":"10.3390/ijns10040073","DOIUrl":"10.3390/ijns10040073","url":null,"abstract":"<p><p>X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy. cALD is fatal if not treated with hematopoietic cell transplantation in the early stages of the disease course. This can be achieved through cascade testing or newborn screening (NBS). Due to the lack of predictive measures of disease trajectory, patients are monitored with frequent MRI scans and hormone testing to ensure timely intervention. With this study, we wanted to explore how the diagnosis of ALD, before the development of cALD, and the follow-up program affected patients and their parents. Using semi-structured interviews, we interviewed seven parents of children with ALD aged 3-11 and four patients with ALD aged 18-25. Because NBS for ALD has not been implemented in Denmark, the patients were identified through either cascade testing or after having presented with adrenal insufficiency. We generated five themes: (I) ALD patients maintained mental resilience despite diagnosis and surveillance; (II) patients' concerns matured with age and centered around situations that confronted them with their patient status; (III) parents of children with ALD had both short-term and long-term worries for their children's health; (IV) parents took on a huge psychological burden; and (V) due to its rarity, the diagnosis of ALD evoked a sense of isolation and disease-related loneliness. Overall, we found a large discrepancy in the experiences reported by parents and patients. Despite the small sample size, we identified patterns that suggest that while the early diagnosis took a significant psychological toll on the parents, patients lived relatively carefree lives despite their ALD diagnosis.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709579","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
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
International Journal of Neonatal Screening 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
{"title":"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.","authors":"Abdullah S Alshehri, Abdul A Peer-Zada, Abeer A Algadhi, Abdulwahed Aldehaimi, Mohammed A Saleh, Aziza M Mushiba, Eissa A Faqeih, Ali M AlAsmari","doi":"10.3390/ijns10040072","DOIUrl":"https://doi.org/10.3390/ijns10040072","url":null,"abstract":"<p><p>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% (<i>n</i> = 382/40,965). The true positive result rate was 15.3% (<i>n</i> = 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% (<i>n</i> = 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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500436","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
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
International Journal of Neonatal Screening 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
{"title":"A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.","authors":"Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S Yee, Barbara K Burton","doi":"10.3390/ijns10040071","DOIUrl":"https://doi.org/10.3390/ijns10040071","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500434","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
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
International Journal of Neonatal Screening 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
{"title":"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.","authors":"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","doi":"10.3390/ijns10040070","DOIUrl":"https://doi.org/10.3390/ijns10040070","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500448","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
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
International Journal of Neonatal Screening 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
{"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
International Journal of Neonatal Screening Pub Date : 2024-10-02 DOI: 10.3390/ijns10040068
Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang
{"title":"Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.","authors":"Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang","doi":"10.3390/ijns10040068","DOIUrl":"https://doi.org/10.3390/ijns10040068","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500438","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
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
International Journal of Neonatal Screening 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
{"title":"A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.","authors":"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","doi":"10.3390/ijns10040067","DOIUrl":"https://doi.org/10.3390/ijns10040067","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500433","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
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
International Journal of Neonatal Screening 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
{"title":"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. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66\".","authors":"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","doi":"10.3390/ijns10040066","DOIUrl":"https://doi.org/10.3390/ijns10040066","url":null,"abstract":"<p><p>We thank the authors for their comments [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500439","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
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