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Int. J. Neonatal Screen., Volume 3, Issue 3 (September 2017)

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Research

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Open AccessFeature PaperArticle Newborn Screening for Severe Combined Immunodeficiency in Taiwan
Int. J. Neonatal Screen. 2017, 3(3), 16; doi:10.3390/ijns3030016
Received: 30 March 2017 / Revised: 2 June 2017 / Accepted: 19 June 2017 / Published: 23 June 2017
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Abstract
A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented
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A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency. Full article
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Open AccessArticle Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia
Int. J. Neonatal Screen. 2017, 3(3), 22; doi:10.3390/ijns3030022
Received: 4 August 2017 / Revised: 18 August 2017 / Accepted: 18 August 2017 / Published: 21 August 2017
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Abstract
The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff levels. The incidence of CH in different regions of Macedonia
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The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff levels. The incidence of CH in different regions of Macedonia has not been evaluated before. A total of 251,008 newborns from all eight regions in the country have been screened between 2002 and 2015, by measurement of the thyroid-stimulating hormone (TSH) from blood spots, sampled 48–72 h after birth, using the DELFIA assay. Overall CH incidence confirmed at birth was 1/1976. The highest CH incidence was observed in the Vardar region (1/970), while the Eastern region had the lowest incidence (1/4202; p=0.021). In the other regions, the following CH incidence was detected: Northeastern 1/1459, Pelagonia 1/1627, Polog 1/1444, Skopje 1/2430, Southwestern 1/3226, and Southeastern 1/1843. Interestingly, in the Vardar region, 4.44% of the screened newborns had a TSH concentration > 5 mIU/L, as an indicator of regional iodine deficiency, compared to the Eastern region where 1.66% of newborns had a TSH > 5 mIU/L. The higher CH incidence in some of the regions may be due to increasing exposure to environmental toxic agents and/or deficient iodine intake. Further research into the potential environmental determinants of increased CH risk is warranted. Full article
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Open AccessArticle The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group
Int. J. Neonatal Screen. 2017, 3(3), 25; doi:10.3390/ijns3030025
Received: 6 February 2017 / Revised: 26 June 2017 / Accepted: 28 August 2017 / Published: 30 August 2017
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Abstract
The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) and afterwards to the
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The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) and afterwards to the entire ENS program comprising of 23 inborn errors of metabolism (IEM). In 2013–2015, a total of 165,648 newborns were investigated in ENS, 23,321 of them (14%) were the R ethnic group, a total of 313 positive cases were discovered (total ENS prevalence = 1:529, M = 1:758, R = 1:198). In the R ethnic group, there was a slightly higher prevalence of congenital hypothyroidism (CH), only one case of CF, and no cases of congenital adrenal hyperplasia (CAH) in the R ethnic group. The ENS prevalence of IEM detected by MS/MS was significantly higher in the R ethnic group than in M group (M = 1:1670 vs. R = 1:234, OR:7,13). Significant differences in the prevalence of individual types of IEM were also found. While PKU and other aminoaciduria and organic acidurias dominate in the M group, the fatty acid oxidation disorders (MCAD, SCAD) and carnitine defects (CUD) were more frequent in the R newborn group. Despite the preliminary nature of the results, an ethnic approach to ENS enables the recording of the ethnic differences in the screen prevalence of individual disorders, which would not be apparent without this approach. Full article
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Review

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Open AccessFeature PaperReview Suitable Specimen Types for Newborn Biochemical Screening-A Summary
Int. J. Neonatal Screen. 2017, 3(3), 17; doi:10.3390/ijns3030017
Received: 12 May 2017 / Revised: 17 July 2017 / Accepted: 17 July 2017 / Published: 21 July 2017
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Abstract
Newborn biochemical screening has been in place in many countries for over fifty years initially testing dried skin puncture whole blood spotted on collection paper (DBS) or urine for phenylalanine or phenylketones to identify phenylketonuria. Countries wishing to commence newborn screening need to
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Newborn biochemical screening has been in place in many countries for over fifty years initially testing dried skin puncture whole blood spotted on collection paper (DBS) or urine for phenylalanine or phenylketones to identify phenylketonuria. Countries wishing to commence newborn screening need to consider which type of specimen will provide a satisfactory specimen and matrix for testing for disorders relevant to their population, is acceptable to parents and can be readily transported to the analytical or laboratory facility without significant degradation. Whilst DBSs have largely become the specimen of choice they may not be applicable to all cultures and infrastructures. The majority of disorders appropriate to be identified in the newborn period can be detected in DBSs taken shortly after birth. Some are also detectable in cord blood or urine, some are not. Most disorders have an ideal and often different time window of age for identification in relation to treatment for optimum outcome. When embarking on newborn screening for the first time or in expanding what is already in place, it is important that the disorders considered are evaluated against the Wilson and Jungner criteria for population screening. A brief overview of specimen types including urine, cord blood and DBSs with some of their advantages and limitations is provided in this review to assist in decision-making. Full article
Open AccessReview Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
Int. J. Neonatal Screen. 2017, 3(3), 19; doi:10.3390/ijns3030019
Received: 18 July 2017 / Revised: 18 July 2017 / Accepted: 1 August 2017 / Published: 3 August 2017
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Abstract
Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to
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Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency (SCID) and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC) has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS) technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy. Full article
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Other

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Open AccessObituary Obituary Prof. Dr. Ruth Illig
Int. J. Neonatal Screen. 2017, 3(3), 18; doi:10.3390/ijns3030018
Received: 27 July 2017 / Revised: 27 July 2017 / Accepted: 28 July 2017 / Published: 3 August 2017
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Abstract
On 26 June 2017 Prof. Dr. Ruth Illig peacefully passed away after a life fulfilled with an untiring commitment for children with endocrine diseases. She has been an enthusiastic fighter for the improvement of child health not only in Europe, but also with
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On 26 June 2017 Prof. Dr. Ruth Illig peacefully passed away after a life fulfilled with an untiring commitment for children with endocrine diseases. She has been an enthusiastic fighter for the improvement of child health not only in Europe, but also with a global perspective.[...] Full article
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Open AccessMeeting Report Abstracts of Presentations Scheduled for the 10th ISNS-Asia Pacific Regional Meeting, Ulaanbataar, Mongolia, 24–26 August 2017
Int. J. Neonatal Screen. 2017, 3(3), 20; doi:10.3390/ijns3030020
Received: 7 August 2017 / Revised: 13 August 2017 / Accepted: 15 August 2017 / Published: 15 August 2017
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Abstract
The International Society for Neonatal Screening (ISNS) recognises six different geographical regions [...]
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Open AccessCase Report MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile
Int. J. Neonatal Screen. 2017, 3(3), 21; doi:10.3390/ijns3030021
Received: 25 December 2016 / Revised: 9 August 2017 / Accepted: 10 August 2017 / Published: 17 August 2017
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Abstract
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS in
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Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS in many countries, which has resulted in a significant reduction of morbidity and mortality. We report a child with MCADD presenting neonatally with apnoea and heart arrest. Despite intensive efforts to rescue the child, including reanimation for 90 min, the child died at the second day of life. Autopsy revealed fatty liver and also fat storage in heart muscle, which was suggestive of a fatty acid oxidation defect. However, acylcarnitines determined from stored EDTA blood were not suggestive of MCADD. Nevertheless, a subsequent whole exome sequencing analysis revealed homozygosity for the ACADM gene c.1084A>G/p.Lys362Glu mutation. Full article
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Open AccessConference Report Gunnar Jungner and the Principles and Practice of Screening for Disease
Int. J. Neonatal Screen. 2017, 3(3), 23; doi:10.3390/ijns3030023
Received: 27 June 2017 / Revised: 15 August 2017 / Accepted: 16 August 2017 / Published: 21 August 2017
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Abstract
We present a biography of Gunnar Jungner, one of the authors of the Principles and Practice of Screening for Disease by JMG Wilson and G Jungner, published by the WHO in 1968. This publication contains ten criteria, which are still consulted, when a
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We present a biography of Gunnar Jungner, one of the authors of the Principles and Practice of Screening for Disease by JMG Wilson and G Jungner, published by the WHO in 1968. This publication contains ten criteria, which are still consulted, when a new disorder is evaluated for inclusion in a screening program. Gunnar Jungner was a Swedish MD, PhD, specialized in Clinical Chemistry, born in Sweden in 1914. In 1961 he built an automated instrument for the analysis of different components in plasma, with the aim to detect diseases in presumably healthy individuals, to enable start of treatment at an early disease stage. This first automated instrument for Clinical Chemistry in Sweden was used in a screening project, where 90 000 seemingly healthy individuals were included. The study was discussed extensively and he was invited to present the results at different international meetings, where he also met JMG Wilson. Gunnar Jungner developed the instrument further together with his brother Ingmar and the Swedish gas company AGA. The brothers also established an out-patient ward in Stockholm, where people could come for health screening. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
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Open AccessCase Report Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation
Int. J. Neonatal Screen. 2017, 3(3), 24; doi:10.3390/ijns3030024
Received: 25 July 2017 / Revised: 25 August 2017 / Accepted: 25 August 2017 / Published: 30 August 2017
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Abstract
We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth,
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We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth, resulting in the clinical suspicion of an intoxication-type metabolic disease such as maple syrup urine disease (MSUD). Although the slightly elevated branched-chain amino acids in newborn screening on the fourth day of life initially supported the clinical suspicion of MSUD, the elevated Phenylalanine (Phe) of 650 µmol/L, low Tyrosine (Tyr) of 30 µmol/L, and a Phe/Tyr ratio of 22, led to the diagnosis of PKU. BH4-testing resulted in a significant decrease of Phe from 1011 to 437 µmol/L within 24 h. Urinary pterins and dihydropteridine reductase (DHPR) activity were normal, supporting the diagnosis of BH4-responsive PKU. Dietary restriction of Phe was initiated immediately, but oral feeding turned out to be difficult because of gastrointestinal symptoms. Intestinal motility disorder was suspected due to distended abdomen, obstructive symptoms and radiological findings with dilated intestinal loops and lack of intestinal gas in the anorectal region. Hirschsprung disease was confirmed by rectal suction biopsies and treated by a laparoscopically-assisted transanal pull-through (de la Torre) procedure. The boy is additionally compound heterozygous for two mutations in the phenylalanine hydroxylase (PAH) gene, which confirmed BH4-responsive PKU. It is the first case to be described in the literature of the comorbidity of PKU and Hirschsprung disease. Full article
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