International Journal of Neonatal Screening

13 pages, 2757 KiB

Open AccessArticle

Factors Influencing Parental Awareness about Newborn Screening

by Věra Franková, Alena Dohnalová, Karolína Pešková, Renata Hermánková, Riona O’Driscoll, Pavel Ješina and Viktor Kožich

Int. J. Neonatal Screen. 2019, 5(3), 35; https://doi.org/10.3390/ijns5030035 - 18 Sep 2019

Cited by 13 | Viewed by 4722

Abstract

Appropriate and timely education about newborn screening (NBS) helps to foster benefits such as prompt follow up, to promote parents’ autonomy via informed consent and minimize the harms such as reducing the impact of NBS false-positive results. The aim of this study was [...] Read more.

Appropriate and timely education about newborn screening (NBS) helps to foster benefits such as prompt follow up, to promote parents’ autonomy via informed consent and minimize the harms such as reducing the impact of NBS false-positive results. The aim of this study was to ascertain how mothers are informed about NBS in the Czech Republic and to identify the variables associated with awareness about NBS. The questionnaires evaluating awareness and its determinants were mailed to a random sample of 3000 mothers 3 months post-delivery. The overall response rate was 42%. We analysed 1100 questionnaires and observed that better awareness about NBS was significantly associated with age, parity, number of information sources, child health status, size of maternity hospital and an obstetrician as the source of prenatally obtained information. Although the majority of mothers (77%) in our study recalled being informed by a physician or nurse in the neonatal ward, results have revealed that over 40% of participants did not have sufficient awareness about the principal aspects of NBS. Several measures including seminars for healthcare providers and the development and distribution of new educational materials were adopted to improve parental education about NBS in the Czech Republic. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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13 pages, 516 KiB

Open AccessArticle

Development of National Newborn Screening Quality Indicators in the United States

by Careema Yusuf, Marci K. Sontag, Joshua Miller, Yvonne Kellar-Guenther, Sarah McKasson, Scott Shone, Sikha Singh and Jelili Ojodu

Int. J. Neonatal Screen. 2019, 5(3), 34; https://doi.org/10.3390/ijns5030034 - 12 Sep 2019

Cited by 16 | Viewed by 4078

Abstract

Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality [...] Read more.

Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system. Full article

(This article belongs to the Special Issue Newborn Screening: Promoting Quality to Optimise Benefit and Reduce Harm)

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15 pages, 1477 KiB

Open AccessArticle

Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia

by Eric R. Bialk, Michael R. Lasarev and Patrice K. Held

Int. J. Neonatal Screen. 2019, 5(3), 33; https://doi.org/10.3390/ijns5030033 - 6 Sep 2019

Cited by 18 | Viewed by 6252

Abstract

Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during [...] Read more.

Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during the first few days of life. To improve screening for CAH, Wisconsin developed a second-tier assay to quantify four different steroids (17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, and cortisol) by liquid chromatography–tandem mass spectrometry (LC–MSMS) in dried blood spots. From validation studies which included the testing of confirmed CAH patients, Wisconsin established its own reporting algorithm that incorporates steroid concentrations as well as two different ratios—the birth weight and the collection time—to identify babies at risk for CAH. Using the newly developed method and algorithm, the false positive rate for the CAH screening was reduced by 95%. Patients with both classical forms of CAH, salt-wasting and simple virilizing, were identified. This study replicates and expands upon previous work to develop a second-tier LC–MSMS steroid profiling screening assay for CAH. The validation and prospective study results provide evidence for an extensive reporting algorithm that incorporates multiple steroids, birth weight, and collection times. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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12 pages, 716 KiB

Open AccessArticle

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT

by Ilham Sadik, Inmaculada Pérez de Algaba, Rocío Jiménez, Carmen Benito, Javier Blasco-Alonso, Pilar Caro, Víctor M. Navas-López, Javier Pérez-Frías, Estela Pérez, Juliana Serrano and Raquel Yahyaoui

Int. J. Neonatal Screen. 2019, 5(3), 32; https://doi.org/10.3390/ijns5030032 - 3 Sep 2019

Cited by 4 | Viewed by 3644

Abstract

Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin with measuring immunoreactive trypsinogen (IRT). Pancreatitis-associated protein (PAP) has been suggested as second-tier [...] Read more.

Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin with measuring immunoreactive trypsinogen (IRT). Pancreatitis-associated protein (PAP) has been suggested as second-tier testing. The main objective of this study was to evaluate the analytical performance of an IRT/PAP/IRT strategy versus the current IRT/IRT strategy over a two-year pilot study including 68,502 newborns. The design of the study, carried out in a prospective and parallel manner, allowed us to compare four different CF-NBS protocols after performing a post hoc analysis. The best PAP cutoff point and the potential sources of PAP false positive results in our non-CF newborn population were also studied. 14 CF newborns were detected, resulting in an overall CF prevalence of 1/4, 893 newborns. The IRT/IRT algorithm detected all CF cases, but the IRT/PAP/IRT algorithm failed to detect one case of CF. The IRT/PAP/IRT with an IRT-dependent safety net protocol was a good alternative to improve sensitivity to 100%. The IRT × PAP/IRT strategy clearly performed better, with a sensitivity of 100% and a positive predictive value (PPV) of 39%. Our calculated optimal cutoffs were 2.31 µg/L for PAP and 167.4 µg²/L² for IRT × PAP. PAP levels were higher in females and newborns with low birth weight. PAP false positive results were found mainly in newborns with conditions such as prematurity, sepsis, and hypoxic-ischemic encephalopathy. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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12 pages, 1394 KiB

Open AccessArticle

The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell Disease

by Marven El Osta, Pierre Naubourg, Olivier Grunewald, Gilles Renom, Patrick Ducoroy and Jean Marc Périni

Int. J. Neonatal Screen. 2019, 5(3), 31; https://doi.org/10.3390/ijns5030031 - 31 Aug 2019

Cited by 1 | Viewed by 2397

Abstract

Previous research has shown that a MALDI-MS technique can be used to screen for sickle cell disease (SCD), and that a system combining automated sample preparation, MALDI-MS analysis and classification software is a relevant approach for first-line, high-throughput SCD screening. In order to [...] Read more.

Previous research has shown that a MALDI-MS technique can be used to screen for sickle cell disease (SCD), and that a system combining automated sample preparation, MALDI-MS analysis and classification software is a relevant approach for first-line, high-throughput SCD screening. In order to achieve a high-throughput “plug and play” approach while detecting “non-standard” profiles that might prompt the misclassification of a sample, we have incorporated various sets of alerts into the decision support software. These included “biological alert” indicators of a newborn’s clinical status (e. g., detecting samples with no or low HbA), and “technical alerts” indicators for the most common non-standard profiles, i.e., those which might otherwise lead to sample misclassification. We evaluated these alerts by applying them to two datasets (produced by different laboratories). Despite the random generation of abnormal spectra by one-off technical faults or due to the nature and quality of the samples, the use of alerts fully secured the process of automatic sample classification. Firstly, cases of β-thalassemia were detected. Secondly, after a visual check on the tagged profiles and reanalysis of the corresponding biological samples, all the samples were correctly reclassified without prompting further alerts. All of the samples for which the results were not tagged were well classified (i.e., sensitivity and specificity = 1). The alerts were mainly designed for detecting false-negative classifications; all the FAS samples misclassified by the software as FA (a false negative) were marked with an alert. The implementation of alerts in the NeoScreening^® Laboratory Information Management System’s decision support software opens up perspectives for the safe, reliable, automated classification of samples, with a visual check solely on abnormal results or samples. It should now be possible to evaluate the combination of the NeoSickle^® analytical solution and the NeoScreening^® Laboratory Information Management System in a real-life, prospective study of first-line SCD screening. Full article

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9 pages, 861 KiB

Open AccessArticle

Newborn Sickle Cell and Thalassaemia Screening Programme: Automating and Enhancing the System to Evaluate the Screening Programme

by Catherine Coppinger and Robyn O’Loughlin

Int. J. Neonatal Screen. 2019, 5(3), 30; https://doi.org/10.3390/ijns5030030 - 31 Aug 2019

Cited by 2 | Viewed by 2978

Abstract

Good information is needed to demonstrate that a screening programme is meeting its objectives, to measure performance against standards and to ensure that action is taken if standards are not met. In 2010, the NHS Sickle Cell and Thalassaemia (SCT) Screening Programme established [...] Read more.

Good information is needed to demonstrate that a screening programme is meeting its objectives, to measure performance against standards and to ensure that action is taken if standards are not met. In 2010, the NHS Sickle Cell and Thalassaemia (SCT) Screening Programme established a process to collect data on the main outcome measures for newborn babies. In 2016, a review identified that data completeness and quality relied on manual processes and there was widespread dissatisfaction amongst data providers due to duplication of data entry, poor feedback and lack of oversight of the baby to ensure safe handover from screening into treatment services. Using an Agile service design process and following the Government Digital Service Model, the SCT Screening Programme worked in close collaboration with users, wider stakeholders and system suppliers to design and build a new automated system. The new system ensures that the screening programme can fulfil its duty to evaluate the effectiveness of the programme, whilst pleasing the users and enhancing safety. User experience must be central to design and ongoing development to ensure that a new IT system is fit for purpose and adopted by users. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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5 pages, 185 KiB

Open AccessArticle

Diagnosis of Carnitine Deficiency in Extremely Preterm Neonates Related to Parenteral Nutrition: Two Step Newborn Screening Approach

by Mamatha Ramaswamy, Victor Anthony Skrinska, Rola Fayez Mitri and Ghassan Abdoh

Int. J. Neonatal Screen. 2019, 5(3), 29; https://doi.org/10.3390/ijns5030029 - 31 Aug 2019

Cited by 7 | Viewed by 3074

Abstract

Currently, there is no evidence in the literature to support the routine supplementation of all parenterally fed premature infants with l-carnitine. In our study, we found that about 8.56% of extremely preterm neonates are diagnosed with carnitine deficiency secondary to malnutrition, either [...] Read more.

Currently, there is no evidence in the literature to support the routine supplementation of all parenterally fed premature infants with l-carnitine. In our study, we found that about 8.56% of extremely preterm neonates are diagnosed with carnitine deficiency secondary to malnutrition, either due to reduced stores at birth or related to total parenteral nutrition (TPN). Our two step approach of performing newborn screening (NBS) again at 32 weeks gestational age (GA) equivalent helps to diagnose 81.4% more preterm babies with carnitine deficiency—who would otherwise be missed—and supplement them with l-carnitine for optimal growth. We performed a retrospective cohort study to diagnose carnitine deficiency related to malnutrition in two groups: those presenting at birth and those presenting later in life. We found that there was a statistically significant difference in the median GA and birth weight (BW) between the two groups, but there was no difference in the free carnitine levels. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

15 pages, 1244 KiB

Open AccessArticle

A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK

by Alice Bessey, James Chilcott, Joanna Leaviss, Carmen de la Cruz and Ruth Wong

Int. J. Neonatal Screen. 2019, 5(3), 28; https://doi.org/10.3390/ijns5030028 - 30 Aug 2019

Cited by 17 | Viewed by 5372

Abstract

Severe combined immunodeficiency (SCID) can be detected through newborn bloodspot screening. In the UK, the National Screening Committee (NSC) requires screening programmes to be cost-effective at standard UK thresholds. To assess the cost-effectiveness of SCID screening for the NSC, a decision-tree model with [...] Read more.

Severe combined immunodeficiency (SCID) can be detected through newborn bloodspot screening. In the UK, the National Screening Committee (NSC) requires screening programmes to be cost-effective at standard UK thresholds. To assess the cost-effectiveness of SCID screening for the NSC, a decision-tree model with lifetable estimates of outcomes was built. Model structure and parameterisation were informed by systematic review and expert clinical judgment. A public service perspective was used and lifetime costs and quality-adjusted life years (QALYs) were discounted at 3.5%. Probabilistic, one-way sensitivity analyses and an exploratory disbenefit analysis for the identification of non-SCID patients were conducted. Screening for SCID was estimated to result in an incremental cost-effectiveness ratio (ICER) of £18,222 with a reduction in SCID mortality from 8.1 (5–12) to 1.7 (0.6–4.0) cases per year of screening. Results were sensitive to a number of parameters, including the cost of the screening test, the incidence of SCID and the disbenefit to the healthy at birth and false-positive cases. Screening for SCID is likely to be cost-effective at £20,000 per QALY, key uncertainties relate to the impact on false positives and the impact on the identification of children with non-SCID T Cell lymphopenia. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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11 pages, 1733 KiB

Open AccessArticle

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP^® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

by Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari and Teemu Korpimäki

Int. J. Neonatal Screen. 2019, 5(3), 27; https://doi.org/10.3390/ijns5030027 - 27 Aug 2019

Cited by 30 | Viewed by 7418

Abstract

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment [...] Read more.

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform—the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening. Full article

(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)

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111 pages, 644 KiB

Open AccessMeeting Report

Screening Pathways through China, the Asia Pacific Region, the World

by Veronica Wiley, Dianne Webster and Gerard Loeber

Int. J. Neonatal Screen. 2019, 5(3), 26; https://doi.org/10.3390/ijns5030026 - 22 Aug 2019

Cited by 12 | Viewed by 8692

Abstract

The International Society for Neonatal Screening (ISNS) has met regularly at both international meetings and those of the various chapters [...] Full article

(This article belongs to the Special Issue Selected Papers from 10th ISNS International Symposium/11th Asia Pacific Regional Meeting)

8 pages, 412 KiB

Open AccessArticle

Newborn Screening Long Term Follow-Up in the Medical Home

by Deborah Badawi, Katharine Bisordi, Marilyn J. Timmel, Scott Sorongon and Erin Strovel

Int. J. Neonatal Screen. 2019, 5(3), 25; https://doi.org/10.3390/ijns5030025 - 25 Jul 2019

Cited by 2 | Viewed by 3352

Abstract

This demonstration project explored the feasibility of utilizing data from pediatric primary care providers to evaluate the long-term outcomes of children with disorders identified by newborn screening (NBS). Compliance with national guidelines for care and the morbidity for this population was also examined. [...] Read more.

This demonstration project explored the feasibility of utilizing data from pediatric primary care providers to evaluate the long-term outcomes of children with disorders identified by newborn screening (NBS). Compliance with national guidelines for care and the morbidity for this population was also examined. Primary care practices were recruited and patients with sickle cell disease or who were deaf/hard of hearing were given the opportunity to enroll in the study. Data were collected on the quality of the medical home with practice data compared to family responses. Clinical outcomes for each patient were assessed by review of medical records and patient surveys. These data sources were compared to determine accuracy of primary care data, morbidity, and receipt of preventive care. Electronic data sharing was explored through transmission of Clinical Document Architecture (CDA) files. Care coordination was a challenge, even in highly accredited medical homes. Providers did not have complete information regarding clinical outcomes and children were not consistently receiving recommended preventive care. Electronic data sharing with public health departments encountered interface challenges. Primary care providers in the USA should not currently be used as a sole source to evaluate long-term outcomes of children with disorders identified by NBS. Full article

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Int. J. Neonatal Screen., Volume 5, Issue 3 (September 2019) – 11 articles

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