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Int. J. Neonatal Screen., Volume 3, Issue 2 (June 2017)

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Research

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Open AccessArticle Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden
Int. J. Neonatal Screen. 2017, 3(2), 11; doi:10.3390/ijns3020011
Received: 7 April 2017 / Revised: 9 May 2017 / Accepted: 10 May 2017 / Published: 19 May 2017
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Abstract
Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,462 newborn
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Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,462 newborn infants. The number of T-cell receptor excision circle (TREC)/kappa-deleting recombination excision circle (KREC)/β-actin (ACTB) copies were quantified simultaneously by real time polymerase chain reaction (PCR) in 3.2 mm punches from dried blood samples taken in the regular neonatal screening program. Results: Five patients with immune deficiencies were identified: two with SCID caused by mutations in the Artemis- and adenosine deaminase gene, respectively, one with ataxia telangiectasia and two with reversible agammagloblinemia, which so far, is of unknown cause. This points to an incidence of SCID at the same level as in other studies (around 1:50,000). In 19 recalled infants, low KREC levels and in one case, also low TREC levels, were caused by immunosuppressive treatment of the mother during pregnancy. The levels normalized within a month in all these infants. The total recall rate was 0.10%, and 40% of the recalled infants were born prematurely (<37 weeks gestation). Among 69 patients with inborn errors of metabolism screened retrospectively, only two, who were severely ill with organic acidemias when the sample was taken, and two with mitochondrial disorders, screened positive. Full article
Open AccessArticle Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism
Int. J. Neonatal Screen. 2017, 3(2), 007; doi:10.3390/ijns3020007
Received: 7 February 2017 / Revised: 24 March 2017 / Accepted: 30 March 2017 / Published: 4 April 2017
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Abstract
Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a retrospective evaluation on
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Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a retrospective evaluation on the data from 251,008 (96.72%) neonates screened for thyroid-stimulating hormone (TSH) level in dried blood spot specimens taken 48 h after birth, between 2002 and 2015, using the DELFIA method. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter. Primary CH was detected in 127 newborns (1/1976) of which 81.1% had permanent and 18.9% had transient CH. The prevalence of primary CH increased from 1/2489 before 2010 to 1/1585 thereafter (p = 0.131). However, the prevalence of permanent CH increased only slightly (p = 0.922), while the transient CH prevalence showed an 8-fold increase after lowering the TSH cutoff level (p < 0.001). In cases of permanent CH, we observed a lower prevalence of thyroid dysgenesis (82.7% vs. 66.7%) and a higher prevalence of a normal in situ thyroid gland (17.3% vs. 33.3%), for the period with a lower TSH cutoff value. Our findings support the impact of a lower TSH cutoff on the increasing prevalence of congenital hypothyroidism. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)

Review

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Open AccessReview Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
Int. J. Neonatal Screen. 2017, 3(2), 6; doi:10.3390/ijns3020006
Received: 15 November 2016 / Revised: 17 January 2017 / Accepted: 16 February 2017 / Published: 29 March 2017
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Abstract
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give
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Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide. Full article
(This article belongs to the Special Issue Next Generation Sequencing in Newborn Screening)
Open AccessReview A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
Int. J. Neonatal Screen. 2017, 3(2), 8; doi:10.3390/ijns3020008
Received: 14 December 2016 / Revised: 25 February 2017 / Accepted: 28 March 2017 / Published: 7 April 2017
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Abstract
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency.
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Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of the disease by prolonging ambulation, reducing scoliosis, and assisted ventilation. Introduction of therapy at an early age may halt the muscle pathology in DMD. In anticipation of the potentially disease-modifying products that are reaching regulatory review, Parent Project Muscular Dystrophy (PPMD) formally initiated a national Duchenne Newborn Screening (DNBS) effort in December 2014 to build public health infrastructure for newborn screening (NBS) for Duchenne in the United States. The effort includes a formalized national Duchenne Newborn Screening Steering Committee, six related Working Groups, a Duchenne Screening Test Development Project led by PerkinElmer, a program with the American College of Medical Genetic and Genomics’ Newborn Screening Translation Research Network (NBSTRN), and collaborations with other Duchenne partners and federal agencies involved in NBS. We herein review the organization and effort of the U.S. DNBS program to develop the evidence supporting the implementation of NBS for DMD. Full article
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Other

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Open AccessCase Report Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Int. J. Neonatal Screen. 2017, 3(2), 10; doi:10.3390/ijns3020010
Received: 8 March 2017 / Revised: 21 April 2017 / Accepted: 24 April 2017 / Published: 28 April 2017
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Abstract
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation
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An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency—a rare autosomal recessive disorder of long-chain fatty acid oxidation. Confirmatory biochemical testing in the newborn period showed carnitine levels to be unexpectedly low with a normal acylcarnitine profile. Thus, it was considered to be a false-positive newborn screen and metabolic follow-up was not recommended. Repeat biochemical testing during this hospitalization revealed a normal acylcarnitine profile. The only abnormalities noted were a low proportion of acylcarnitine species from plasma, an elevated free-to-total carnitine ratio, and mild hypoketotic medium chain dicarboxylic aciduria on urine organic acids. Gene sequencing of CPT1A revealed a novel homozygous splice site variant that confirmed his diagnosis. CPT1A deficiency has a population founder effect in the Inuit and other Arctic groups, but has not been previously reported in persons of Ashkenazi Jewish ancestry. Full article
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Open AccessCorrection Correction: Loeber, Gerard. ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016. Int. J. Neonatal Screen. 2016, 2, 5
Int. J. Neonatal Screen. 2017, 3(2), 9; doi:10.3390/ijns3020009
Received: 20 October 2016 / Revised: 20 October 2016 / Accepted: 20 October 2016 / Published: 21 April 2017
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