Newborn screening for inborn errors of immunity and spinal muscular atrophy (SMA) enables early identification of infants at risk for severe disorders, facilitating timely treatment and improved outcomes. This study describes the first Greek experien...
Given the substantial morbidity of congenital cytomegalovirus (cCMV) infection on child health, there is considerable interest in the question of whether every newborn infant should be screened for this infection, toward the goal of identifying infan...
Severe combined immunodeficiency (SCID) is a pediatric emergency in which affected infants appear healthy at birth and are typically diagnosed only after life-threatening infection develops, by which point survival after hematopoietic stem cell trans...
Establishing a National Newborn Screening Stakeholder Workgroup offers a timely opportunity to rebuild a coherent national process for evaluating conditions for the Recommended Uniform Screening Panel (RUSP) [...]
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder most commonly caused by 21-hydroxylase deficiency and can lead to life-threatening adrenal crises in infancy if not detected early. In Pakistan, the true incidence of CAH remains...
Krabbe disease (KD) is a rare, inherited leukodystrophy associated with early mortality. Infantile Krabbe disease (IKD) was added to the Recommended Uniform Screening Panel (RUSP) in July 2024. Since then, U.S. states have continued to evaluate imple...
Expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) can identify multiple inborn errors of metabolism (IEMs), but regional disease and genetic spectra vary. We retrospectively analyzed 611,080 newborns screened at the Women and Ch...
Pompe disease, Krabbe disease, and mucopolysaccharidosis type I were added to the newborn screen in Indiana in 2020. Clinical and laboratory teams collaborated to determine optimal strategies for first- and second-tier testing on newborn screen prior...
Haemoglobinopathies are an increasing health concern in Europe due to changing population demographics. In Italy, however, newborn screening (NBS) for haemoglobinopathies is not yet included in the national mandatory screening panel. The primary aim...
Phenylketonuria (PKU) is a treatable inherited disorder causing severe, irreversible neurocognitive impairment if not detected and treated early. In Morocco, PKU care is limited by the absence of universal newborn screening (NBS), inadequate diagnost...
Newborn screening (NBS) is an effective public health intervention for the early detection of treatable congenital disorders, which may reduce the long-term healthcare burden and yield potential cost for families. Despite its proven benefits, NBS upt...
Expanded newborn screening (eNBS) using tandem mass spectrometry (MS/MS) optimizes outcomes for inborn errors of metabolism (IEMs). Following Thailand’s universal eNBS rollout, we evaluated the 4-year diagnostic performance, disease spectrum, a...
Lysosomal storage disorders (LSDs) are genetically and clinically heterogeneous conditions in which delayed recognition may permit irreversible multisystem injury. Flow-injection analysis tandem mass spectrometry (FIA-MS/MS) of dried blood spots (DBS...
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder causing progressive neurodegeneration through central and peripheral demyelination, leading to premature death. Recent advances in ex vivo lentiviral gene therapy have developed...
The purpose of this research was to evaluate the implementation and relative diagnostic accuracy of dried blood spot (DBS) and dried saliva spot (DSS)-based newborn screening for congenital cytomegalovirus infection (cCMV). This prospective paired-sa...
Primary carnitine deficiency (PCD), caused by Organic Cation Transporter Novel 2 (OCTN2) deficiency, is detected by newborn screening (NBS) through low blood free carnitine (C0) concentrations. Confirmation of the diagnosis may be supported by demons...
Maple syrup urine disease (MSUD) is a time-critical inborn error of metabolism in which early detection may prevent irreversible neurological injury, yet the success of newborn screening (NBS) depends on timely post-screening care. We retrospectively...
Newborn bloodspot screening (NBS) has expanded in scope owing to technological advances and the development of novel therapies. In Japan, coverage of standard NBS is nearly 100%; however, uptake of expanded newborn bloodspot screening (eNBS), which h...
Universal newborn screening for human immunodeficiency virus (HIV) has been mandatory in New York State (NYS) since 1997. The goal of screening is to prevent mother-to-child transmission (MTCT) by using approaches including antiretroviral therapy (AR...
X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and peroxisomal disorder. It was added to newborn screening (NBS) programs following its first implementation in New York in 2013. Since then, X-ALD screening has expanded rapidl...
Newborn screening (NBS) is an essential public health intervention for early detection and secondary prevention of inherited disorders in asymptomatic infants at birth. Advances in this field and the accessibility of new screening methods and therapi...
Communication of screen-positive newborn bloodspot screening (NBS) results is inherently challenging for both parents and HCPs. There is no internationally accepted gold-standard model, with heterogeneity in practice and with many jurisdictions repor...
Advances in metabolomics and genomics present new opportunities to expand newborn screening. Traditional screening approaches have relied on condition-specific biomarkers; however, untargeted metabolomic profiling may enable broader detection of gene...
Newborn screening (NBS) is an established public health intervention capable of preventing death, disability, and lifelong disease through early identification and treatment of affected newborns. However, equitable access to NBS remains limited, part...
As infectious causes of child mortality decline, birth defects represent a growing relative proportion of neonatal and under-five deaths (as well as unmeasured morbidity) in low- and middle-income countries (LMICs), underscoring the need to integrate...
Newborn screening (NBS) in Pakistan remains limited by fragmented service delivery, uneven provincial capacity, and the absence of an implementation pathway that links policy intent to operational planning. This study aimed to co-design a provincial...
Classical homocystinuria (HCY) due to cystathionine beta-synthase (CBS) deficiency is included in many newborn screening programs, which traditionally use dried blood spot (DBS) methionine as the primary biomarker. However, some patients have normal...
Newborn screening (NBS) is a critical component of the three-tiered prevention strategy for birth defects, reducing congenital disorder burden and improving long-term child health outcomes. Over the past 45 years, NBS in China has evolved into a nati...
Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NB...
Newborn screening (NBS) for inborn errors of metabolism is challenged by high false-positive rates, which may lead to parental anxiety and increased healthcare costs associated with diagnostic follow-up. False-positive results often arise from change...
Since October 2019, screening for methylmalonic acidemia (MMA) has been implemented in the Dutch Newborn Screening (NBS) program. Since implementation, most referrals for MMA have been the result of (maternal) vitamin B12 deficiency. Although vitamin...
Newborn screening (NBS) for primary immunodeficiencies (PIDs) increasingly incorporates kappa-deleting recombination excision circles (KREC) to enable early detection of B-cell lymphopenia, particularly agammaglobulinemia (AGG). However, optimal KREC...
Newborn screening (NBS) is a cornerstone of preventive medicine, enabling early diagnosis and treatment of severe congenital disorders. In Spain, despite the existence of a Basic Common Portfolio, the absence of a harmonized national panel has led to...
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome), is a rare X-linked lysosomal disease that leads to progressive tissue and organ damage. Early treatment is essential as most symptoms of MPS II are not reversible. Consequently, M...
Informed consent is fundamental to Australian newborn bloodspot screening (NBS), but emerging genomic screening technologies pose new challenges to clinical care and research. Optimizing consent processes is necessary to support ethical practice and...
Neonatal screening using Dried Blood Spot (DBS) cards is an important and successful public health facility in Europe, enabling early detection of congenital disorders for early treatment and prevention of overt disease. Biobanks of stored DBS cards...
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is associated with serious clinical consequences. While newborn screening (NBS) could facilitate early identification and timely intervention, its implementation for X-...
The adoption of pulse oximetry screening (POS) in low- and middle-income countries remains limited. We describe the development, implementation, and evaluation of a POS program at two of the leading tertiary centers in Accra, Ghana, based on a modifi...
Amino acid metabolic disorders (AAMs) are a group of inherited metabolic diseases caused by defects in enzymes or transporters involved in amino acid metabolism. This systematic review and meta-analysis aimed to evaluate the incidence, disease spectr...
Newborn screening (NBS) for cystic fibrosis (CF) was first implemented almost 50 years ago, and many improvements have been made to the initial algorithms, educational approaches, and available therapies [...]
Krabbe disease is an autosomal recessive leukodystrophy caused by a deficiency of the lysosomal enzyme galactosylceramidase (GALC), responsible for the degradation of galactolipids, resulting in toxic psychosine accumulation and progressive demyelina...
Citrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caus...
Congenital cytomegalovirus (cCMV) is characterized by highly variable outcomes; how diagnostic information is communicated to families is critical, yet parent experiences of communication following a cCMV diagnosis are not well described. The objecti...
Newborn screening benefits children with rare diseases by enabling early detection and intervention, which improves health outcomes. False-positive results are one harm of screening, with infants subject to further testing to resolve a positive scree...
Congenital heart disease is the most common birth defect worldwide. Perinatal detection, either in utero or prior to hospital discharge is important for planning delivery, ordering adjunct testing, and planning for surgical or medical care. In countr...
The peripheral perfusion index (PPI) is a non-invasive indicator of peripheral tissue perfusion in neonates. However, reference values for the PPI at different postnatal time points in healthy neonates residing at high altitudes, as well as early per...
Pulse oximetry screening (POS) is a simple non-invasive tool which enables the early detection of critical congenital heart defects (CCHDs). POS has moderate sensitivity and high specificity; it is cost-effective, readily accepted by parents and heal...
Congenital Cytomegalovirus (cCMV) infection is the leading non-genetic cause of sensorineural hearing loss in newborns. Systematic nationwide screening programmes are lacking. Antiviral valganciclovir therapy could improve auditory outcomes if initia...
The early detection of Severe Combined Immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) prevents fatal outcomes. This study presents the first pilot TREC/KREC newborn screening (NBS) program in southern Kazakhstan, a high-birth-rate regi...
5q spinal muscular atrophy (5q-SMA) is a leading genetic cause of infant mortality. Presymptomatic intervention with disease-modifying therapies significantly improves motor outcomes, but effectiveness depends on early detection through newborn scree...
