2026 December - 22 articles
6 November 2026
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...
