Special Issue "Newborn Screening-Past, Present and Future"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (30 December 2016)

Special Issue Editors

Guest Editor
Prof. Dr. Harvey L. Levy

Professor of Pediatrics, Harvard Medical School; Division of Genetics and Genomics, Boston Children’s Hospital, 1 Autumn St., Boston, MA 02115, USA
Website | E-Mail
Phone: +1-617-355-6346
Fax: +1-617-730-4856
Interests: neonatal screening; inborn errors of metabolism; phenylketonuria; homocystinuria; galactosemia; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Assistant Guest Editor
Mr. Lawrence Chan

Division of Genetics and Genomics, Boston Children’s Hospital, 1 Autumn St., Boston, MA 02115, USA
E-Mail

Special Issue Information

Dear Colleagues,

Even Robert Guthrie could not have envisioned the scope of newborn screening when, in the late 1950s and early 1960s, he developed newborn screening for Phenylketonuria (PKU). He did think that it would expand beyond PKU and, indeed, he added several metabolic disorders to screening and lived to see expansion beyond metabolic disorders to congenital hypothyroidism, as well as congenital adrenal hyperplasia and sickle cell anemia. However, he could not have thought that his simple filter paper dried blood specimen would be used to test for 30–50 disorders, and certainly did not envision the possibility that virtually every genetic disorder could be identified, as is now being considered.

This Special Issue of the International Journal of Neonatal Screening, devoted to “Newborn Screening – Past, Present and Future”, will consider where we have been, where we are, and where we might be going.

Potential Topics:

  • NBS in Latin America
  • NBS in New England
  • Gene sequencing in NBS
  • Lysosomal storage disorders in NBS
  • Experience of NBS for Krabbe disease
  • NBS in Europe or Western Europe or the European Communuity
  • The prospect of NBS for adrenoleukodystophy
  • NBS by succinylacetone tyrosine as it has changed Tyrosinemia I
  • NBS for biotinidase deficiency-converting a disease
  • Adding homocysteine to methionine for the methionine metabolic defects

Prof. Dr. Harvey L. Levy
Guest Editor

Mr. Lawrence Chan
Assistant Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) is waived for well-prepared manuscripts submitted to this issue. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • newborn screening
  • neonatal screening
  • phenylketonuria
  • PKU
  • genetic disorders
  • dried blood
  • inborn error of metabolism
  • phenylalanine hydroxylase deficiency

Published Papers (9 papers)

View options order results:
result details:
Displaying articles 1-9
Export citation of selected articles as:

Research

Jump to: Review, Other

Open AccessArticle Indifferent or Uninformed? Reflections of Health Professionals on Parental Education and Consent for Expanded Newborn Screening in Israel, 2008–2016
Int. J. Neonatal Screen. 2017, 3(2), 12; https://doi.org/10.3390/ijns3020012
Received: 27 December 2016 / Revised: 27 April 2017 / Accepted: 31 May 2017 / Published: 12 June 2017
Cited by 2 | PDF Full-text (839 KB) | HTML Full-text | XML Full-text | Supplementary Files
Abstract
Background: This study explored the views of health professionals regarding parental education and informed consent for newborn screening (NBS) following the expansion of the NBS program in Israel. Methods: 24 in-depth interviews with 22 practitioners involved in NBS in Israel, and internationally, were
[...] Read more.
Background: This study explored the views of health professionals regarding parental education and informed consent for newborn screening (NBS) following the expansion of the NBS program in Israel. Methods: 24 in-depth interviews with 22 practitioners involved in NBS in Israel, and internationally, were conducted and analyzed qualitatively. Results and discussion: 1. Program creators, who were involved in the development, design, implementation, and delivery of the expanded NBS program, were concerned about the “indifferent” attitude of parents of newborns to NBS as opposed to their high awareness and utilization of prenatal screening. 2. Program creators evaluated program success by different standards of parental education and informed consent than did practitioners, who were involved solely or mostly in the delivery of NBS results. The latter were skeptical about the possibility of obtaining informed consent and expressed diverse views about desired levels of education and consent. Eight years later, parental indifference to NBS is still a major concern for program creators, but not for practitioners. Conclusions: Program creators, due to their role and direct responsibility, assess NBS as an independent, stand-alone process about which parents should be informed and educated. Therefore, they focus on the indifference of parents to NBS as a non-optimal achievement of one programmatic aspect. Practitioners, on the other hand, perceive the medical care of the newborn holistically, focusing on the overall well-being of the baby. Therefore, they would be satisfied if the best possible medical care is provided to the newborn, by screening, confirmatory diagnosis, and follow up, even if parents are less informed about the process. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Figures

Figure 1

Open AccessArticle Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism
Int. J. Neonatal Screen. 2017, 3(2), 7; https://doi.org/10.3390/ijns3020007
Received: 7 February 2017 / Revised: 24 March 2017 / Accepted: 30 March 2017 / Published: 4 April 2017
Cited by 2 | PDF Full-text (175 KB) | HTML Full-text | XML Full-text
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
[...] Read more.
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)
Open AccessArticle Newborn Screening for X-Linked Adrenoleukodystrophy
Int. J. Neonatal Screen. 2016, 2(4), 15; https://doi.org/10.3390/ijns2040015
Received: 5 October 2016 / Revised: 3 November 2016 / Accepted: 30 November 2016 / Published: 6 December 2016
Cited by 4 | PDF Full-text (181 KB) | HTML Full-text | XML Full-text
Abstract
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history
[...] Read more.
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Open AccessArticle A Life in Newborn Screening
Int. J. Neonatal Screen. 2016, 2(4), 14; https://doi.org/10.3390/ijns2040014
Received: 22 September 2016 / Revised: 4 November 2016 / Accepted: 10 November 2016 / Published: 24 November 2016
Cited by 1 | PDF Full-text (838 KB) | HTML Full-text | XML Full-text
Abstract
Newborn screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today it is an abnormal finding in newborn screening which
[...] Read more.
Newborn screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today it is an abnormal finding in newborn screening which leads to the diagnosis and presymptomatic preventative therapy. It is my good fortune to have been involved in newborn screening for virtually all of my 50 years in metabolic disorders—the first 31 years with direct involvement. I have been part of the expansion of newborn screening from the time of the original Guthrie bacterial assays to the addition of tandem mass spectrometry. Newborn screening continues to be a central part of my professional life. This article describes my journey in newborn screening as a metabolic physician and the hallmarks of this journey within the rich history of newborn screening. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Figures

Figure 1

Review

Jump to: Research, Other

Open AccessReview Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned
Int. J. Neonatal Screen. 2017, 3(1), 3; https://doi.org/10.3390/ijns3010003
Received: 8 November 2016 / Revised: 12 February 2017 / Accepted: 12 February 2017 / Published: 1 March 2017
Cited by 5 | PDF Full-text (246 KB) | HTML Full-text | XML Full-text
Abstract
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and
[...] Read more.
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. An additional forty-six asymptomatic infants were found to be at moderate or high risk for disease. Screening for KD is both analytically and medically challenging; since screening for KD possesses both of these challenges, and many more, the lessons learned thus far could be used to predict the challenges that may be faced when screening for other lysosomal storage disorders (LSDs). This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Open AccessReview The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know
Int. J. Neonatal Screen. 2016, 2(4), 9; https://doi.org/10.3390/ijns2040009
Received: 6 August 2016 / Revised: 29 September 2016 / Accepted: 25 October 2016 / Published: 28 October 2016
PDF Full-text (525 KB) | HTML Full-text | XML Full-text
Abstract
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated
[...] Read more.
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes. Therefore, the disorder readily meets the major criteria for newborn screening. Our laboratory has been instrumental in developing, piloting and establishing newborn screening for the disorder in the United States and in many countries. This review discusses some of the “behind-the-scenes” aspects of how we spread the word about the disorder and what we learned from over 30 years of newborn screening. We also discuss some of the controversies and issues about biotinidase deficiency that remain to be addressed. Based on the successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening, this is one of the best, if not the best, disorder for which to perform newborn screening. In summary, “If an individual has to have an inherited metabolic disorder, biotinidase deficiency is the one to have.” Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Figures

Graphical abstract

Other

Jump to: Research, Review

Open AccessConference Report Gunnar Jungner and the Principles and Practice of Screening for Disease
Int. J. Neonatal Screen. 2017, 3(3), 23; https://doi.org/10.3390/ijns3030023
Received: 27 June 2017 / Revised: 15 August 2017 / Accepted: 16 August 2017 / Published: 21 August 2017
PDF Full-text (6714 KB) | HTML Full-text | XML Full-text
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
[...] Read more.
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)
Figures

Figure 1

Open AccessCase Report A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar
Int. J. Neonatal Screen. 2017, 3(1), 5; https://doi.org/10.3390/ijns3010005
Received: 30 December 2016 / Revised: 2 March 2017 / Accepted: 3 March 2017 / Published: 9 March 2017
PDF Full-text (306 KB) | HTML Full-text | XML Full-text
Abstract
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included
[...] Read more.
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Figures

Figure 1

Open AccessTechnical Note A Non-Invasive Strategy for Neonatal Alloimmune Thrombocytopenia Diagnosis: Newborn Platelet Genotyping with Buccal Swabs
Int. J. Neonatal Screen. 2016, 2(3), 3; https://doi.org/10.3390/ijns2030003
Received: 9 June 2016 / Revised: 24 June 2016 / Accepted: 29 June 2016 / Published: 4 July 2016
PDF Full-text (442 KB) | HTML Full-text | XML Full-text
Abstract
Neonatal alloimmune thrombocytopenia results from the maternal immune response against fetal-specific antigens inherited from the father. The diagnosis is ascertained only when the maternal alloantibody and the offending antigen present in the newborn are identified. Up until now most laboratories perform DNA extraction
[...] Read more.
Neonatal alloimmune thrombocytopenia results from the maternal immune response against fetal-specific antigens inherited from the father. The diagnosis is ascertained only when the maternal alloantibody and the offending antigen present in the newborn are identified. Up until now most laboratories perform DNA extraction for neonatal genotyping from newborn blood samplings. In order to avoid such an invasive procedure, two protocols of DNA extraction from buccal swabs were developed: a manual protocol using the QIAamp mini blood kit (Qiagen), and an automated procedure with the MagNA Pure Compact instrument (Roche). Both EDTA-blood and buccal swabs from thrombocytopenic newborns were genotyped manually (14 samples), automatically (15 samples) or both manually and automatically (two samples). Human Platelet Antigen (HPA) genotyping was performed using the BeadChip assay (BioArray, Immucor). Concordant genotypings were obtained for all samples except for one swab with the manual method. The automated DNA extraction from newborn buccal swabs with the MagNA Pure Compact instrument was chosen as the first-line strategy, with a significant gain of time in processing buccal swabs. Full article
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
Figures

Figure 1

Back to Top