International Journal of Neonatal Screening最新文献_第7页

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach 通过新生儿苯丙酮尿症筛查偶然发现典型半乳糖血症：确定该方法有效性的 10 年回顾性审计

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-22 DOI: 10.3390/ijns10010002

Nathan W. P. Cantley, R. Barski, Helena Kemp, Sarah L Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, L. Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, R. Carling, Stuart J Moat

{"title":"Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach","authors":"Nathan W. P. Cantley, R. Barski, Helena Kemp, Sarah L Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, L. Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, R. Carling, Stuart J Moat","doi":"10.3390/ijns10010002","DOIUrl":"https://doi.org/10.3390/ijns10010002","url":null,"abstract":"In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an “Other disorder suspected” (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased. We aimed to determine the efficacy of CG detection via NBS and estimate the incidence of CG in live births in the UK. A survey was sent to all UK NBS laboratories to collate CG cases diagnosed in the UK from 2010 to 2020. Cases of CG diagnosed were determined if detected clinically, NBS, or by family screening, as well as age at diagnosis. Cases referred via the ODS pathway were also collated, including the final diagnosis made. Responses were obtained from 13/16 laboratories. Between 2010 and 2020, a total of 6,642,787 babies were screened, and 172 cases of CG were identified. It should be noted that 85/172 presented clinically, 52/172 were identified by NBS, and 17/172 came from family screening. A total of 117 referrals were made via the ODS pathway, and 45/117 were subsequently diagnosed with CG. Median (interquartile range) age at diagnosis by NBS and clinically was 8 days (7–11) and 10 days (7–16), respectively (Mann–Whitney U test, U = 836.5, p-value = 0.082). The incidence of CG is 1:38,621 live births. The incidence of CG in the UK is comparable with that of other European/western countries. No statistical difference was seen in the timing of diagnosis between NBS and clinical presentation based on the current practice of sampling on day 5. Bringing forward the day of NBS sampling to day 3 would increase the proportion diagnosed with CG by NBS from 52/172 (30.2%) to 66/172 (38.4%).","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"269 5","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139165581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening 在新生儿先天性巨细胞病毒 (cCMV) 筛查中评估液滴数字 PCR (ddPCR) 是否能提高新生儿干血斑中巨细胞病毒 (CMV) DNA 的检测灵敏度

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-20 DOI: 10.3390/ijns10010001

Nelmary Hernandez-Alvarado, Craig J. Bierle, M. Schleiss

{"title":"Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening","authors":"Nelmary Hernandez-Alvarado, Craig J. Bierle, M. Schleiss","doi":"10.3390/ijns10010001","DOIUrl":"https://doi.org/10.3390/ijns10010001","url":null,"abstract":"Congenital cytomegalovirus (cCMV) infection is a leading cause of sensorineural hearing loss (SNHL) and neurodevelopmental disabilities in children worldwide. Some regions in the United States and Canada have implemented universal newborn screening for cCMV, which requires molecular diagnostic technologies for identifying cCMV, such as PCR testing of newborn dried blood spots (DBS). This study aimed to evaluate the sensitivity of droplet digital PCR (ddPCR) compared to quantitative real-time PCR to detect CMV DNA in newborn DBS. The limit of detection of various ddPCR primer/probe combinations (singleplex UL55-HEX, singleplex UL83-FAM, and multiplex UL55-HEX/UL83-FAM) was evaluated using the National Institute of Standards and Technology’s (NIST) CMV quantitative standard. Singleplex UL55-HEX ddPCR exhibited the lowest limit of detection among the primer/probe combinations tested for ddPCR. UL55 ddPCR was then compared to real-time PCR in 49 infants with confirmed cCMV identified through newborn screening for CMV in saliva swabs and confirmed by a urine test. The results showed that ddPCR was only positive for 59% (29 out of 49) of the cCMV infants, while real-time PCR was positive for 80% (39 out of 49). Due to its lower sensitivity and throughput, ddPCR may not be suitable for cCMV newborn screening.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"64 4","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139170887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population. 新生儿严重联合免疫缺陷筛查：早产新生儿筛查和随访的经验教训。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-15 DOI: 10.3390/ijns9040068

Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh, Mei Baker

{"title":"Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population.","authors":"Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh, Mei Baker","doi":"10.3390/ijns9040068","DOIUrl":"10.3390/ijns9040068","url":null,"abstract":"Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face the challenge of false positive results, with a disproportionately high number in the premature newborn population. This study evaluates TREC values and SCID screening outcomes in premature newborns and elucidates evidence-based SCID screening practices that reduce unnecessary follow-up activities in this population. De-identified individual SCID newborn screening data and aggregate SCID screening data were obtained from seven states across the US for babies born between 2018 and 2020. Relevant statistics were performed on data pooled from these states to quantify screening performance metrics and clinical impact on various birth and gestational age categories of newborns. The data were normalized using multiples-of-the-median (MoM) values to allow for the aggregation of data across states. The aggregation of NBS data across a range of NBS programs highlighted the trajectory of TREC values over time, both between and within newborns, and provides evidence for improved SCID screening recommendations in the premature and low birth weight population.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 4","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10744167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138829687","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 Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS 新生儿基因筛查--桑格测序在 NGS 时代仍有用武之地

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-07 DOI: 10.3390/ijns9040067

Silje Hogner, E. Lundman, J. Strand, M. Ytre-Arne, T. Tangeraas, A. Stray-Pedersen

引用次数: 0

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone 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

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-04 DOI: 10.3390/ijns9040066

A. Dijkstra, Kimber Evers-van Vliet, M. Heiner-Fokkema, F. Bodewes, Dennis K. Bos, J. Zsiros, Koen J. van Aerde, K. Koop, F. V. van Spronsen, Charlotte M. A. Lubout

{"title":"A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone","authors":"A. Dijkstra, Kimber Evers-van Vliet, M. Heiner-Fokkema, F. Bodewes, Dennis K. Bos, J. Zsiros, Koen J. van Aerde, K. Koop, F. V. van Spronsen, Charlotte M. A. Lubout","doi":"10.3390/ijns9040066","DOIUrl":"https://doi.org/10.3390/ijns9040066","url":null,"abstract":"Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker for TT1 newborn screening (NBS). While SA was long considered to be elevated in every TT1 patient, here we present a recent false-negative SA TT1 screen. A nine-year-old boy presented with HCC in a cirrhotic liver. Additional tests for the underlying cause unexpectedly revealed TT1. Nine years prior, the patient was screened for TT1 via SA NBS with a negative result: SA 1.08 µmol/L, NBS cut-off 1.20 µmol/L. To our knowledge, this report is the first to describe a false-negative result from the TT1 NBS using SA. False-negative TT1 NBS results may be caused by milder TT1 variants with lower SA excretion. Such patients are more likely to be missed in NBS programs and can be asymptomatic for years. Based on our case, we advise TT1 to be considered in patients with otherwise unexplained liver pathology, including fibrosis, cirrhosis and HCC, despite a previous negative TT1 NBS status. Moreover, because the NBS SA concentration of this patient fell below the Dutch cut-off value (1.20 µmol/L at that time), as well as below the range of cut-off values used in other countries (1.29–10 µmol/L), it is likely that false-negative screening results for TT1 may also be occurring internationally. This underscores the need to re-evaluate TT1 SA NBS programs.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 12","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138604065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition. 新生儿血斑筛查漏诊的囊性纤维化病例--实现一致的定义和数据采集。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-11-21 DOI: 10.3390/ijns9040065

Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben

引用次数: 0

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective 新生儿筛查后诊断x连锁肾上腺脑白质营养不良:参考实验室视角

International Journal of Neonatal Screening Pub Date : 2023-11-02 DOI: 10.3390/ijns9040064

Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase

{"title":"Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective","authors":"Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase","doi":"10.3390/ijns9040064","DOIUrl":"https://doi.org/10.3390/ijns9040064","url":null,"abstract":"Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum of phenotypes, but approximately 35% of affected males develop childhood cerebral adrenoleukodystrophy (CCALD), which is lethal without hematopoietic stem cell transplant performed before symptoms start. Hence, ALD was added to the Recommended Uniform Screening Panel after the successful implementation in New York State (2013–2016). To date, thirty-five states have implemented newborn screening (NBS) for ALD, and a few programs have reported on the successes and challenges experienced. However, the overall impact of NBS on early detection of ALD has yet to be fully determined. Here, we conducted a retrospective analysis of VLCFA testing performed by our reference laboratory (ARUP Laboratories, Salt Lake City, UT, USA) over 10 years. Rate of detection, age at diagnosis, and male-to-female ratio were evaluated in patients with abnormal results before and after NBS implementation. After NBS inclusion, a significant increase in abnormal results was observed (471/6930, 6.8% vs. 384/11,670, 3.3%; p < 0.0001). Patients with ALDP deficiency identified via NBS were significantly younger (median age: 30 days vs. 21 years; p < 0.0001), and males and females were equally represented. ALD inclusion in NBS programs has increased pre-symptomatic detection of this disease, which is critical in preventing adrenal crisis as well as the severe cerebral form.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"162 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135974153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders NBSTRN工具推进新生儿筛查研究和支持新生儿筛查利益相关者

International Journal of Neonatal Screening Pub Date : 2023-10-30 DOI: 10.3390/ijns9040063

Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower

{"title":"NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders","authors":"Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower","doi":"10.3390/ijns9040063","DOIUrl":"https://doi.org/10.3390/ijns9040063","url":null,"abstract":"Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Screening Panel (RUSP) and the implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. Additionally, we discuss ongoing tool development to facilitate the expansion of genetic disease screening in increasingly diverse populations. In conclusion, NBSTRN’s tools and resources provide a trusted platform to enable NBS stakeholders to advance NBS research and improve clinical care for patients and their families.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"296 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136022634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity 全日本用(C16 + C18:1)/C2和C14/C3筛查新生儿肉毒碱棕榈酰基转移酶II缺乏症，显示C12/C0指标具有较高的敏感性和特异性

International Journal of Neonatal Screening Pub Date : 2023-10-27 DOI: 10.3390/ijns9040062

Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

{"title":"Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity","authors":"Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada","doi":"10.3390/ijns9040062","DOIUrl":"https://doi.org/10.3390/ijns9040062","url":null,"abstract":"Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic groups. Our study group had earlier used (C16 + C18:1)/C2 to conduct a pilot newborn screening (NBS) study, and found that the use of C14/C3 for screening yielded lower rates of false positivity; in 2018, as a result, nationwide NBS for CPT II deficiency started. In this study, we evaluated the utility of these ratios in 71 NBS-positive infants and found that the levels of both C14/C3 and (C16 + C18:1)/C2 in patients overlapped greatly with those of infants without the disease. Among the levels of acylcarnitines with various chain lengths (C18 to C2) and levels of free carnitine (C0) as well as their ratios of various patterns, C12/C0 appeared to be a promising index that could reduce false-positive results without missing true-positive cases detected by current indices. Although some cases of the myopathic form may go undetected even with C12/C0, its use will help prevent life-threatening onset of the hypoglycemic form of CPT II deficiency.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"162 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136234469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany. 通用新生儿听力筛查计划：德国筛查中心的10年结果和随访。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-23 DOI: 10.3390/ijns9040061

Kruthika Thangavelu, Kyriakos Martakis, Silke Feldmann, Bernhard Roth, Peter Herkenrath, Ruth Lang-Roth

{"title":"Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany.","authors":"Kruthika Thangavelu, Kyriakos Martakis, Silke Feldmann, Bernhard Roth, Peter Herkenrath, Ruth Lang-Roth","doi":"10.3390/ijns9040061","DOIUrl":"10.3390/ijns9040061","url":null,"abstract":"Regular reporting of quality control is important in newborn hearing screening, ensuring early diagnosis and intervention. This study reports on a population-based newborn hearing screening program in North-Rhine, Germany and a hospital-based screening at a University Hospital for 2007-2016. The two-staged 'screening' and 'follow-up' program involving TEOAE and AABR recruited newborns through participating birth facilities. Results were sent to the regional tracking center, and the data were analyzed based on recommended benchmarks. The percentage of newborns from the participating birth facilities in the region increased from 1.4% in 2007 to 57.5% in 2016. The 10-year coverage rate for these newborns was 98.7%, the referral rate after a failed two-step screening was 3.4%, and the lost-to-follow-up rate was 1%. At the hospital, >95% of the screened newborns completed screening within 30 days, the 10-year referral rate was 5%, and 64% were referred within 3 months of age. The median time for screening completion was 6 days after birth, for referral it was 74 days after birth, and for diagnosis it was 55 days after birth. Regional-centralized tracking centers with uniform structure are necessary for proper quality control. Obligatory participation of birthing facilities and quality reports may improve performance, but the recommended quality criteria need considerable financial and infrastructural expenditure.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 4","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690445","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