International Journal of Neonatal Screening

15 pages, 247 KiB

Open AccessReview

Potential Benefit of Selective CMV Testing after Failed Newborn Hearing Screening

by Peter Kummer and Steven C. Marcrum

Int. J. Neonatal Screen. 2018, 4(2), 20; https://doi.org/10.3390/ijns4020020 - 19 Jun 2018

Cited by 6 | Viewed by 4292

Evidence-based guidelines for the prevention, diagnosis and treatment of congenital cytomegalovirus (cCMV) were recently released by two independent expert groups. Of particular emphasis was the relationship between cCMV and sensorineural hearing loss (SNHL), a major component of the virus’ overall disease burden. In [...] Read more.

Evidence-based guidelines for the prevention, diagnosis and treatment of congenital cytomegalovirus (cCMV) were recently released by two independent expert groups. Of particular emphasis was the relationship between cCMV and sensorineural hearing loss (SNHL), a major component of the virus’ overall disease burden. In this study, a literature review was performed to estimate the proportion of cCMV-related SNHL cases, which might be identified through selective cCMV testing following failed newborn hearing screening. Furthermore, it was of interest to estimate the potential benefit of emerging antiviral therapies. Currently, at most 10% of cCMV-related SNHL is likely to be identified clinically. Through use of a selective cCMV testing protocol, however, a significant improvement in the identification rate can be achieved. Recent expert group statements strongly recommend antiviral therapy in cases of moderate-to-severe disease, especially in the presence of central nervous system involvement. Though differences exist between recommendations in instances of isolated SNHL or SNHL in combination with only mild symptoms, the majority of experts in both groups offered at least a weak recommendation for antiviral treatment. Available results suggest antiviral treatment could therefore benefit a meaningful proportion of newborns referred for cCMV testing following failed newborn hearing screening. Full article

(This article belongs to the Special Issue Newborn Hearing Screening)

6 pages, 4437 KiB

Open AccessArticle

Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada

by J. Robert Thompson, Cheryl R. Greenberg, Andrew Dick, Olga Jilkina, Luvinia Kwan, Tamar S. Rubin, Teresa Zelinski, Marlis L. Schroeder and Paul Van Caeseele

Int. J. Neonatal Screen. 2018, 4(2), 19; https://doi.org/10.3390/ijns4020019 - 19 Jun 2018

Cited by 3 | Viewed by 3688

Abstract

The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations [...] Read more.

The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high-resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population. Full article

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9 pages, 637 KiB

Open AccessArticle

Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results

by Kupper A. Wintergerst, Erica Eugster, Karen Andruszewski, Mary Kleyn, Nancy Vanderburg, Joe Sockalosky, Ram Menon, Sharon Linard, Suzanne Kingery, Susan R. Rose, Julie Moore, Gina Gembel and Lisa Gorman

Int. J. Neonatal Screen. 2018, 4(2), 18; https://doi.org/10.3390/ijns4020018 - 17 Jun 2018

Cited by 3 | Viewed by 3574

Abstract

To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, [...] Read more.

To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH. Full article

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13 pages, 248 KiB

Open AccessMeeting Report

25th Annual Meeting of the German Society of Newborn Screening

by Vassiliki Konstantopoulou and Maximilian Zeyda

Int. J. Neonatal Screen. 2018, 4(2), 17; https://doi.org/10.3390/ijns4020017 - 4 Jun 2018

Cited by 3 | Viewed by 3913

Abstract

From 15–16 June 2018, the 25th Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the Van Swieten Hall of the Medical University of Vienna, Vienna, Austria. For the first time, this annual meeting was [...] Read more.

From 15–16 June 2018, the 25th Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the Van Swieten Hall of the Medical University of Vienna, Vienna, Austria. For the first time, this annual meeting was held outside Germany and organized by Maximilian Zeyda, PhD and Vassiliki Konstantopoulou, MD (conference presidents), directors of the Austrian Newborn Screening located at the Dept. of Pediatrics at the Medical University of Vienna. A local scientific board formed by Maximilian Zeyda and Vassiliki Konstantopoulou selected presentations from abstracts that were submitted by scientists of 7 countries, highlighting one purpose of this meeting, which was to foster contact and exchange of newborn screening labs of central European countries. Abstracts of invited lectures, oral communications, and posters presented during the meeting are collected in this report. Full article

13 pages, 254 KiB

Open AccessArticle

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

by Marci K. Sontag, Deboshree Sarkar, Anne M. Comeau, Kathryn Hassell, Lorenzo D. Botto, Richard Parad, Susan R. Rose, Kupper A. Wintergerst, Kim Smith-Whitley, Sikha Singh, Careema Yusuf, Jelili Ojodu, Sara Copeland and Cynthia F. Hinton

Int. J. Neonatal Screen. 2018, 4(2), 16; https://doi.org/10.3390/ijns4020016 - 9 May 2018

Cited by 20 | Viewed by 4910

Abstract

Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification [...] Read more.

Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels. Full article

9 pages, 1431 KiB

Open AccessReview

Pulse Oximetry Screening in Germany—Historical Aspects and Future Perspectives

by Frank-Thomas Riede, Christian Paech and Thorsten Orlikowsky

Int. J. Neonatal Screen. 2018, 4(2), 15; https://doi.org/10.3390/ijns4020015 - 28 Apr 2018

Cited by 5 | Viewed by 4802

Abstract

In January 2017, pulse oximetry screening was legally implemented in routine neonatal care in Germany. The preceding developments, which were the prerequisite for this step, are described in the specific context of Germany’s health care system. Continued evaluation of the method is imperative [...] Read more.

In January 2017, pulse oximetry screening was legally implemented in routine neonatal care in Germany. The preceding developments, which were the prerequisite for this step, are described in the specific context of Germany’s health care system. Continued evaluation of the method is imperative and may lead to modifications in the screening protocol, ideally in accordance with the efforts in other countries. Full article

(This article belongs to the Special Issue Neonatal Screening for Critical Congenital Heart Defects)

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1 pages, 152 KiB

Open AccessReply

A Reply to Comment on Kluckow M. Barriers to the Implementation of Newborn Pulse Oximetry Screening: A Different Perspective. Int. J. Neonatal Screen. 2018, 4(1), 4

by Martin Kluckow

Int. J. Neonatal Screen. 2018, 4(2), 14; https://doi.org/10.3390/ijns4020014 - 17 Apr 2018

Cited by 2 | Viewed by 2626

Abstract

The commentary provided by Gentles et al. argues for the implementation of a universal pulse oximetry screening program, and I agree that, if it is possible, this is the optimum way to introduce this important health care measure for all of the reasons [...] Read more.

The commentary provided by Gentles et al. argues for the implementation of a universal pulse oximetry screening program, and I agree that, if it is possible, this is the optimum way to introduce this important health care measure for all of the reasons set out by the authors.[...] Full article

(This article belongs to the Special Issue Neonatal Screening for Critical Congenital Heart Defects)

2 pages, 175 KiB

Open AccessComment

Comment on Kluckow M. Barriers to the Implementation of Newborn Pulse Oximetry Screening: A Different Perspective. Int. J. Neonatal Screen. 2018, 4(1), 4

by Thomas L. Gentles, Elza Cloete and Mats Mellander

Int. J. Neonatal Screen. 2018, 4(2), 13; https://doi.org/10.3390/ijns4020013 - 14 Apr 2018

Cited by 1 | Viewed by 3240

Abstract

We read the review article by Kluckow M (Barriers to the Implementation of Newborn Pulse Oximetry Screening[...] Full article

(This article belongs to the Special Issue Neonatal Screening for Critical Congenital Heart Defects)

8 pages, 249 KiB

Open AccessArticle

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

by MariaAnna Messina, Concetta Meli, Federica Raudino, Annarita Pittalá, Alessia Arena, Rita Barone, Fortunata Giuffrida, Riccardo Iacobacci, Vera Muccilli, Giovanni Sorge and Agata Fiumara

Int. J. Neonatal Screen. 2018, 4(2), 12; https://doi.org/10.3390/ijns4020012 - 5 Apr 2018

Cited by 12 | Viewed by 10854

Abstract

The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newborn screening laboratories, for Western and Eastern Sicily, which [...] Read more.

The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newborn screening laboratories, for Western and Eastern Sicily, which started their activity in 2011. Here we present the results of expanded screening (excluding phenylketonuria (PKU)) of the Eastern laboratory from January 2011 to December 2017. Our data highlight the importance of the expanded newborn screening as a basic health program to avoid the underestimation of rare diseases and the need of further investigations even when there are no textbook alterations of the metabolic profiles. We performed our analysis on dried blood spot by tandem mass spectrometry, according to Italian guidelines. A total of 196 samples from 60,408 newborns gave positive screening results (recall rate 0.32%) while 12 babies were true positive, including 2 newborns whose mothers resulted in being affected by a metabolic disease. The overall frequency of IEM found in the screening panel was 1:6041 (mothers excluded) or 1:5034 (mothers included). The introduction of MS/MS technology in Sicily has significantly increased the detection of inherited metabolic disorders, including those not previously covered, with a predictable improved outcome for several disorders. Full article

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6 pages, 197 KiB

Open AccessReview

Pulse Oximetry Screening Adapted to a System with Home Births: The Dutch Experience

by Ilona C. Narayen, Nico A. Blom and Arjan B. Te Pas

Int. J. Neonatal Screen. 2018, 4(2), 11; https://doi.org/10.3390/ijns4020011 - 30 Mar 2018

Cited by 2 | Viewed by 3976

Abstract

Neonatal screening for critical congenital heart defects is proven to be safe, accurate, and cost-effective. The screening has been implemented in many countries across all continents in the world. However, screening for critical congenital heart defects after home births had not been studied [...] Read more.

Neonatal screening for critical congenital heart defects is proven to be safe, accurate, and cost-effective. The screening has been implemented in many countries across all continents in the world. However, screening for critical congenital heart defects after home births had not been studied widely yet. The Netherlands is known for its unique perinatal care system with a high rate of home births (18%) and early discharge after an uncomplicated delivery in hospital. We report a feasibility, accuracy, and acceptability study performed in the Dutch perinatal care system. Screening newborns for critical congenital heart defects using pulse oximetry is feasible after home births and early discharge, and acceptable to mothers. The accuracy of the test is comparable to other early-screening settings, with a moderate sensitivity and high specificity. Full article

(This article belongs to the Special Issue Neonatal Screening for Critical Congenital Heart Defects)

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Int. J. Neonatal Screen., Volume 4, Issue 2 (June 2018) – 10 articles

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