International Journal of Neonatal Screening, Volume 11, Issue 1

Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal hyperplasia (CAH) newborn screening is limited. This study aimed to evaluate the clinical utility of LRS in genetic diagnosis and...

This Abstract Book contains abstracts of oral and poster presentations of the 13th ISNS European Regional Meeting in Luxembourg, held from 23 to 26 March 2025.

Florida’s Newborn Screening Program campaign aims to increase the awareness and participation of birthing facilities, providers, and parents. This evaluation aimed to determine the effectiveness and reach of the Newborn Screening Program (NBS)...

Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated in October 2014. Over a 7-year period (January 2015 to December 2021), 43 newborns were diagnosed with VLCAD deficiency out of 356,819 screened, c...

Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practi...

Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid lipase enzyme. Patients present with intestinal failure, malnutrition, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with dietary substrate reduction...

Pennsylvania started newborn screening for Pompe disease (PD) in 2016. As a result, the prevalence of PD has increased with early detection, primarily of late-onset Pompe disease (LOPD). No clear guidelines exist regarding if and when to initiate enz...

Universal Newborn Screening (NBS) programs (for endocrine, immunologic and metabolic disorders) are effective in reducing child morbidity and mortality. Despite available health services, NBS is not carried out for some newborns. The contributing fac...

In the last few decades, neonatal screening (NBS) has expanded to include lysosomal storage diseases, allowing for the early identification of both symptomatic and asymptomatic cases. However, neonatal diagnosis of late-onset disorders can cause pare...

The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylala...

Hemoglobinopathies are commonly detected by newborn screening (NBS). One of the most difficult to accurately diagnose is alpha-thalassemia, which is indicated by the presence of hemoglobin (Hb) Barts on NBS. This mixed methods study incorporated (1)...

Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the...

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn...

Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD...

Background: This study aimed to enhance the scope of neonatal congenital heart disease (CHD) screening by evaluating the effectiveness of training personnel in CHD screening using the “dual-index” method, combining pulse oximetry with car...

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before...

For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as...

Newborn bloodspot screening (NBS) aims to detect treatable disorders in newborns to offer early interventions. According to the official Dutch national NBS guidance, parents in the Netherlands should be informed about NBS during pregnancy by maternit...

Screening for inborn metabolic disorders (IMDs) in newborns is an important way to prevent serious metabolic and developmental difficulties that can result in lasting disabilities or even death. Electrospray ionization tandem mass spectrometry (MS/MS...

Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services. Potential developmental services in the United States include P...

Approximately half of all births globally occur in the Asia Pacific Region. Concerted efforts to support local activities aimed at developing national newborn screening (NBS) have been ongoing for almost 30 years, first by the International Atomic En...

The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand to include IMDs that lack a reliable bio...