International Journal of Neonatal Screening

11 pages, 226 KB

Open AccessArticle

Pediatric Residents’ Awareness and Practices Toward Critical Congenital Heart Disease Screening in Saudi Arabia: A Multicenter Study

by Hussien Abdo Babiker, Turki Omaish Alotaibi, Hiba Hassan, Sulaiman Almohaimeed, Shadin Alamrah, Asalah Alhazmi and Abdulwahab H. Alharbi

Int. J. Neonatal Screen. 2026, 12(1), 12; https://doi.org/10.3390/ijns12010012 - 27 Feb 2026

Abstract

Critical congenital heart disease (CCHD) is a major cause of neonatal morbidity and mortality. Pulse oximetry screening enables early detection, potentially reducing complications and improving outcomes. This study evaluated pediatric residents’ knowledge, attitudes, and practices (KAP) related to CCHD screening in Saudi Arabia. [...] Read more.

Critical congenital heart disease (CCHD) is a major cause of neonatal morbidity and mortality. Pulse oximetry screening enables early detection, potentially reducing complications and improving outcomes. This study evaluated pediatric residents’ knowledge, attitudes, and practices (KAP) related to CCHD screening in Saudi Arabia. A cross-sectional survey was distributed to pediatric residents across Saudi Arabia. The questionnaire assessed knowledge, attitude, and practice regarding CCHD screening. A total of 123 pediatric residents in training were included in the study. Of these, 57 (46.3%) were male, and 66 (53.7%) were female. A progressive increase in mean scores was observed with advancing training years (p = 0.010). A significant difference was observed in knowledge scores based on completion of a cardiology rotation (p = 0.006). A progressive increase in attitude scores was observed with each successive year of training. Current year in training showed a statistically significant association with attitude scores (p < 0.001). Completion of a newborn nursery or NICU rotation was also significantly associated with higher attitude scores (p = 0.027). Similarly, attitude scores were significantly higher among those who had completed a cardiology rotation (mean = 12.99, SD = 1.52) compared to those who had not (mean = 11.60, SD = 1.84; p < 0.001). While practice scores were not statistically different across most groups, senior residents demonstrated better adherence to screening. Residents exhibit increasing awareness and positive attitudes with experience; however, practical implementation remains inconsistent. Targeted education and standardized protocols are necessary to improve outcomes. A positive correlation was observed between knowledge and attitude scores (r = 0.346, p < 0.001). Full article

(This article belongs to the Special Issue Global Updates on the Advancements in CCHD Screening)

7 pages, 210 KB

Open AccessCase Report

Exposure to CFTR Modulators During Pregnancy in Cystic Fibrosis: Four Cases to Highlight Neonatal Diagnostic Challenges and Outcomes

by Louis Domenach, Adrien Pagin, Camille Cisterne, Marie-Pierre Audrezet, Laure Couderc, Laetitia Monteil, Léa Roditis, Marlène Murris, Julie Macey, Michael Fayon, Stéphanie Bui and Marie-Pierre Reboul

Int. J. Neonatal Screen. 2026, 12(1), 11; https://doi.org/10.3390/ijns12010011 - 26 Feb 2026

Abstract

CFTR modulators have transformed the clinical evolution of patients with CF. The number of pregnancies is increasing in women with CF, most of whom are now treated with CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) or Tezacaftor/Ivacaftor. This raises some questions as we still [...] Read more.

CFTR modulators have transformed the clinical evolution of patients with CF. The number of pregnancies is increasing in women with CF, most of whom are now treated with CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) or Tezacaftor/Ivacaftor. This raises some questions as we still lack data on foetal and maternal safety. The preliminary data seem to support the continuation of modulators. Some of these mothers may also give birth to newborns with CF and this raises more questions. We report here four cases of CF newborns whose mothers were treated with CFTR modulators throughout pregnancy to help refine potential foetal outcomes of in utero administration of CF modulators. No maternal or foetal complications could be attributed to CFTR modulators. Three CF newborns were exposed to ETI and were false negative of the newborn screening. Two of them were pancreatic sufficient at birth. The remaining patient, exposed to Tezacaftor/Ivacaftor (TI) alone, showed elevated immunoreactive trypsin (IRT) and severe pancreatic insufficiency at birth. These cases highlight that in utero administration of ETI could potentially improve neonatal outcomes of CF newborns and cause newborn screening false negative. Full article

(This article belongs to the Special Issue Advances in Cystic Fibrosis Newborn Screening: From Laboratory Testing to Diagnosis)

20 pages, 2069 KB

Open AccessReview

Birth Prevalence of Sickle Cell Disease in India: A Systematic Review and Meta-Analysis

by Emine A. Rahiman, Rajendra Prasad Anne and Rajasekharan P. Warrier

Int. J. Neonatal Screen. 2026, 12(1), 10; https://doi.org/10.3390/ijns12010010 - 25 Feb 2026

Viewed by 17

Abstract

Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last [...] Read more.

Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last decade. Our aim was to pool the birth prevalence of SCD and sickle cell trait (SCT). A systematic review of published evidence on nontargeted, universal screening for SCD or SCT in newborns was performed (16 studies). The pooled prevalence of SCD was 1100 per 100,000 (10 studies, 88,276 neonates, 95% CI: 432, 1768), while that of SCT was 9639 per 100,000 (7 studies, 72,702 neonates, 95% CI: 6283, 12,995) in endemic regions. Limited data exist from nonendemic regions. Only three studies had data on follow-up and confirmatory genetic diagnosis. Sparse data exist on cost-effectiveness, long-term follow-up, and the impact of early screening on mortality. Concerted ongoing efforts in the identification of the burden are needed. The needs of the hour are universalization of NBS, integration into existing health systems, and maintenance of birth cohorts with early introduction of penicillin prophylaxis, hydroxyurea, parental education, appropriate immunization, and continued follow-up by an experienced medical team. Full article

(This article belongs to the Special Issue Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?)

9 pages, 210 KB

Open AccessArticle

Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016–2023

by Scott D. Grosse, Kai Hong, Golriz K. Yazdanpanah, Ashley Nash, Amy Gaviglio, Marcus Gaffney, Kendra A. K. Lawrence and Jennifer M. Kwon

Int. J. Neonatal Screen. 2026, 12(1), 9; https://doi.org/10.3390/ijns12010009 - 18 Feb 2026

Viewed by 210

Abstract

Screening for spinal muscular atrophy (SMA) was adopted by all US state newborn screening programs between 2018 and 2024; by the end of 2022, 48 states were screening for SMA. We assessed trends in health insurance records of SMA diagnoses to quantify improvements [...] Read more.

Screening for spinal muscular atrophy (SMA) was adopted by all US state newborn screening programs between 2018 and 2024; by the end of 2022, 48 states were screening for SMA. We assessed trends in health insurance records of SMA diagnoses to quantify improvements in the timeliness of SMA identification following the adoption of screening. We used nationally representative Medicaid claims data for approximately half of US births covered by public insurance and a convenience sample of employer-sponsored health plans. We analyzed records for birth cohorts with at least 1 full year of follow-up (i.e., through the end of the following calendar year). For 2017 births, 1.3 per 100,000 infants had SMA codes first recorded by 1 month of age; this increased to 6.6 per 100,000 among publicly insured newborns born in 2022. The rollout of SMA newborn screening across US states was also followed by improvements in the timely detection of SMA. The proportion of infants with SMA detected by 1 month increased from 18% in 2017 to 61% in 2021 and is projected to reach 75% in 2022. Growth in timely detection was even greater in the employer-insured sample. Timely diagnosis of SMA can enable the initiation of treatment prior to the irreversible loss of motor function. Full article

26 pages, 431 KB

Open AccessReview

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026

by Bradford L. Therrell, Jr.

Int. J. Neonatal Screen. 2026, 12(1), 8; https://doi.org/10.3390/ijns12010008 - 17 Feb 2026

Viewed by 326

Abstract

Newborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually including sickle cell anemia, which was included [...] Read more.

Newborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually including sickle cell anemia, which was included in the screening panel in New York in 1975. Universal inclusion of full population screening for sickle cell anemia was included in all US NBS programs by 2006. Through the years, NBS for sickle cell anemia has expanded to include other clinically significant hemoglobin disorders (both hemoglobinopathies and thalassemias). While NBS programs exist in most high-income countries, their implementation in low- and middle-income settings has been slow, with the inclusion of hemoglobin disorders occurring even more slowly. It is particularly noteworthy that the low-resource settings with the highest incidences of sickle cell diseases (Sub-Saharan Africa, the Caribbean Islands, and India) and therefore the greatest potential for benefitting from NBS, continue to struggle with its implementation. Recent advances in curative treatments further emphasize the importance of NBS in early disease identification. This report reviews some of the history of newborn screening for hemoglobinopathies and thalassemias and provides an update of related activities currently ongoing globally. Full article

(This article belongs to the Special Issue Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?)

11 pages, 731 KB

Open AccessArticle

Optimal Timing for Neonatal Hearing Screening in Well-Babies

by Lisanne Vonk, Paula van Dommelen, Iris Eekhout, Noëlle N. Uilenburg, Paul H. Verkerk and Catharina (Kitty) P. B. van der Ploeg

Int. J. Neonatal Screen. 2026, 12(1), 7; https://doi.org/10.3390/ijns12010007 - 15 Feb 2026

Viewed by 202

Abstract

In The Netherlands, preventive child healthcare (PCHC) has been carrying out neonatal hearing screening in well-babies since 2006. The aim of this study was to examine the relationship between the age of newborns and the false positive referral rate of the first hearing [...] Read more.

In The Netherlands, preventive child healthcare (PCHC) has been carrying out neonatal hearing screening in well-babies since 2006. The aim of this study was to examine the relationship between the age of newborns and the false positive referral rate of the first hearing screening using a transient evoked otoacoustic emission (OAE) test, to identify the most efficient timing for OAE screening. Additionally, we investigated the relationship between the type of OAE screening device (Echoscreen (ES)I/II versus ESIII) and the referral rate during the first screening. We used data from the Dutch universal well-baby neonatal hearing screening programme by PCHC between 2013 and 2023. Multilevel logistic regression analyses were performed to estimate the probability of a referral in 2023 for newborns screened in 2022 and 2023. We included a total of 1,650,506 newborns for 2013–2022 and 323,194 newborns for 2022–2023. The lowest false positive referral rates were found between days five and thirteen, ranging from 3.3 to 3.9%. ESIII significantly increased the probability of a referral compared to ESI/II (odds ratio = 1.84, 95% confidence interval = 1.65–2.06). In conclusion, the timing of neonatal hearing screening significantly impacts the false positive referral rate. Furthermore, the likelihood of a referral is significantly higher when using the ESIII compared to the ESI/II. Full article

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15 pages, 1399 KB

Open AccessArticle

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program

by Madalina Cristina Leanca, Gelu Onose, Georgiana Nicolae, Elena Neagu, Daniela Vasile, Ecaterina Bercu, Oana Mirabela Balanescu, Andrei Capitanescu, Constantin Munteanu, Cristina Popescu and Andrada Mirea

Int. J. Neonatal Screen. 2026, 12(1), 6; https://doi.org/10.3390/ijns12010006 - 1 Feb 2026

Viewed by 515

Abstract

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA [...] Read more.

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA was launched in Romania, aiming to assess feasibility and impact. Objectives are to present the preliminary results of the ongoing SMA neonatal screening pilot program in Romania, evaluating its effectiveness in early detection and referral for treatment. The program started in August 2022 with four maternity hospitals and has progressively expanded to 28 maternity hospitals nationwide. Dried blood spot samples from newborns were analyzed for SMN1 gene deletions using real-time PCR. Positive results were confirmed through genetic testing, and affected infants, along with their families, were referred for further medical evaluation and early therapeutic intervention. Approximately 60,000 newborns have been screened since the program’s inception, and 12 newborns tested positive for SMN1 deletions, resulting in an estimated incidence rate of 1 in 5125 live births. All confirmed cases were promptly referred for specialized care, with early access to disease-modifying therapies. The program has faced challenges in logistics, parental awareness, and equitable access to treatment, but its expansion from 4 to 28 maternities demonstrates increasing feasibility, suitability, and acceptance. Conclusions: The Romanian pilot neonatal screening program for SMA has successfully identified affected infants early, proving its feasibility and clinical impact. The ongoing expansion suggests a strong foundation for a future national program, which could significantly improve early SMA diagnosis and patient outcomes in Romania. Full article

9 pages, 201 KB

Open AccessConference Report

Integrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report

by Olumuyiwa S. Folayan, Bose E. Orimadegun, Adejumoke I. Ayede, Baba P. Inusa, Marika K. Kase and John I. Anetor

Int. J. Neonatal Screen. 2026, 12(1), 5; https://doi.org/10.3390/ijns12010005 - 29 Jan 2026

Cited by 1 | Viewed by 437

Abstract

Newborn screening (NBS) is a cost-effective public health strategy for the early detection of congenital disorders that cause neonatal/infant morbidity and mortality. It is standard care in many high-income and emerging economies. Nigeria, despite its high birth number, has no newborn screening (NBS) [...] Read more.

Newborn screening (NBS) is a cost-effective public health strategy for the early detection of congenital disorders that cause neonatal/infant morbidity and mortality. It is standard care in many high-income and emerging economies. Nigeria, despite its high birth number, has no newborn screening (NBS) programme for any disorder, causing missed opportunities for early therapy. This manuscript is a workshop report and expert consensus of a three-day national workshop organised by the Newborn Screening Consortium–Nigeria (NSC-N) in conjunction with The Federal Ministry of Health Nigeria, Revvity, and international partners. The first meeting comprised experts in different fields of newborn screening and newborn care who reviewed priority congenital disorders, implementation barriers, and national NBS needs in Nigeria. Experts presented pilot data, opinions, and global best practice evidence. Contributions were examined and debated and conclusions were reached by guided discussions and consensus agreement for a pragmatic nationwide NBS plan. The key outcomes were the urgency for Nigeria to begin an integrated, comprehensive NBS programme. Based on standard prioritisation criteria, sickle cell disease and congenital hypothyroidism were selected. Key implementation strategies included integration into routine maternal and child health services, establishing a national screening database, and developing a robust legislative and policy framework. The NBS workshop developed a framework to commence and incorporate integrated NBS into the Nigerian healthcare system. Two conditions were selected to kickstart the programme and establish a foundation for future expansion. This would improve neonatal health outcomes and reduce the long-term burden of congenital disorders. Full article

14 pages, 266 KB

Open AccessCommentary

Advances and Gaps in Global Newborn Screening for Sickle Cell Disease

by Lisa Marie Shook and Russell E. Ware

Int. J. Neonatal Screen. 2026, 12(1), 4; https://doi.org/10.3390/ijns12010004 - 21 Jan 2026

Cited by 1 | Viewed by 621

Abstract

Newborn screening (NBS) for sickle cell disease (SCD) has been performed in the United States (US) for decades, significantly reducing infant morbidity and mortality. A landmark clinical trial demonstrated that early identification of SCD enabled timely and life-saving prophylactic penicillin; this led to [...] Read more.

Newborn screening (NBS) for sickle cell disease (SCD) has been performed in the United States (US) for decades, significantly reducing infant morbidity and mortality. A landmark clinical trial demonstrated that early identification of SCD enabled timely and life-saving prophylactic penicillin; this led to recommendations for universal NBS across the US. Early use of hydroxyurea as a safe and effective treatment for SCD further improved clinical outcomes by preventing acute and chronic disease complications. These advances add to the importance of early diagnosis through NBS, providing an opportunity for early treatment intervention. In recent years, high-resource countries—including those in Europe, the UK, and Canada—have adopted NBS for SCD using diverse strategies. Simultaneously, pilot programs in lower-resource settings such as Africa, Brazil, and India have demonstrated local feasibility and impact through implementation efforts. An overarching equity gap for achieving global NBS for SCD is the variable access to simple, accurate, and affordable testing. Other challenges include timing of NBS testing, targeted populations, laboratory methods, and parental education with genetic counseling. Questions remain about the equitable enrollment of affected infants worldwide into comprehensive care to ensure early treatment. These challenges raise concerns about sustainability, underscore the need for long-term funding and a strategic plan, and highlight persistent inequities from the lack of global NBS standards. Full article

(This article belongs to the Special Issue Equity Issues in Newborn Screening)

15 pages, 1207 KB

Open AccessArticle

Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation

by Praveen Thokala, Alice Bessey, Rachel Knowles, John Marshall, Cristina Visintin, Miranda Lawton and Silvia Lombardo

Int. J. Neonatal Screen. 2026, 12(1), 3; https://doi.org/10.3390/ijns12010003 - 13 Jan 2026

Viewed by 661

Abstract

Spinal muscular atrophy (SMA) is a genetic condition that causes the degeneration of motor neurons in the spinal cord. Newborn blood spot (NBS) screening can potentially enable diagnosis before symptoms, and presymptomatic treatment is considered to be more effective than symptomatic treatment. In [...] Read more.

Spinal muscular atrophy (SMA) is a genetic condition that causes the degeneration of motor neurons in the spinal cord. Newborn blood spot (NBS) screening can potentially enable diagnosis before symptoms, and presymptomatic treatment is considered to be more effective than symptomatic treatment. In this paper, we present an overview of a cost-effectiveness model of NBS screening for SMA in the UK, informed by key clinical trials and the relevant published literature. Our analyses suggest that implementing screening could result in better outcomes and lower costs compared to the current approach of no screening plus treatment. However, several uncertainties and limitations of the model remain. These include uncertainty in the reimbursement status of nusinersen and risdiplam in the future; the ‘actual’ costs of treatments, as they are under confidential commercial agreements; uncertainty in the long-term effectiveness of presymptomatic and symptomatic treatment; and uncertainty around the incidence of SMA and the costs and the accuracy of NBS screening. An SMA in-service evaluation (ISE) that could capture data specific to the UK is under consideration, and an appropriately designed ISE with ongoing data collection could support periodic updates of clinical and cost-effectiveness estimates of NBS screening for SMA in the UK. Full article

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10 pages, 547 KB

Open AccessArticle

Parent Experience and Attitudes Towards Newborn Bloodspot Screening in Ireland

by Mairéad Bracken-Scally, Anna O’Loughlin and Heather Burns

Int. J. Neonatal Screen. 2026, 12(1), 2; https://doi.org/10.3390/ijns12010002 - 7 Jan 2026

Viewed by 662

Abstract

The aim of the evaluation was to gather information on parents’ experiences and attitudes towards the Irish National Newborn Bloodspot Screening Programme (NNBSP). An interviewer-administered survey was completed by 151 parents whose babies underwent newborn bloodspot screening (NBS) between 2023 and 2025 and [...] Read more.

The aim of the evaluation was to gather information on parents’ experiences and attitudes towards the Irish National Newborn Bloodspot Screening Programme (NNBSP). An interviewer-administered survey was completed by 151 parents whose babies underwent newborn bloodspot screening (NBS) between 2023 and 2025 and for whom the screening result was normal. Results suggest that NBS is highly acceptable to parents, with 100% glad their baby underwent screening. The majority (95%) felt they were provided the information needed to understand the importance of NBS for their baby, and 93% are in favour of screening for more conditions. Positive aspects of NBS reported by parents included the following: blood sampling being undertaken in the home, the sample-taker being very nice and being advised in advance to keep the baby’s heel warm to ease the sampling process. Negative aspects of NBS reported included the following: having to return to the hospital for sampling, the baby becoming distressed, not receiving adequate information and not receiving the screening results. Parents were more likely to report negative experiences if the sample was not taken at home and if the sample was taken by a healthcare professional other than a public health nurse. Parents offered recommendations for improvements to the programme. This study provides important insights into parents’ experiences and attitudes towards NBS in Ireland. Full article

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18 pages, 985 KB

Open AccessArticle

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral

by Nils W. F. Meijer, Hidde H. Huidekoper, Klaas Koop, Sabine A. Fuchs, M. Rebecca Heiner Fokkema, Charlotte M. A. Lubout, Andrea B. Haijer-Schreuder, Wouter F. Visser, Rendelien K. Verschoof-Puite, Eugènie Dekkers, Annet M. Bosch, Rose E. Maase and Monique G. M. de Sain-van der Velden

Int. J. Neonatal Screen. 2026, 12(1), 1; https://doi.org/10.3390/ijns12010001 - 24 Dec 2025

Viewed by 867

Abstract

In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test measuring methylcitric acid (MCA) for PA and methylmalonic acid (MMA [...] Read more.

In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test measuring methylcitric acid (MCA) for PA and methylmalonic acid (MMA^mb) for MMA is performed. While this two-tier approach reduces false positives effectively, it can delay referral from the NBS program and diagnosis of propionic aciduria. We describe four early-onset PA cases in which the current Dutch screening algorithm negatively impacted clinical outcomes, highlighting the need for expedited referral. We investigated different alternative screening strategies to identify the most effective approach for improving timeliness, while maintaining the high specificity of Dutch PA NBS. This revised approach prioritizes the evaluation of the C3/C2 ratio in first-tier screening. Specifically, samples with a C3/C2 ratio ≥ 0.75 should be referred directly for medical consultation and confirmatory testing. For all other samples with less pronounced biochemical abnormalities, the existing two-tier screening algorithm remains an appropriate NBS protocol. To position our approach internationally, a survey of European NBS programs was conducted to compare screening and referral protocols for PA across the region. Full article

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Int. J. Neonatal Screen., Volume 12, Issue 1 (March 2026) – 12 articles

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