International Journal of Neonatal Screening, Volume 4, Issue 1

This article reviews the development of the Ninth Clinical Consensus Statement by SIBEN (the Ibero-American of Neonatology) on “Early Detection with Pulse Oximetry (SpO2) of Hypoxemic Neonatal Conditions”. It describes the process of the consensus, a...

Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo...

While the early and asymptomatic recognition of treatable conditions offered by newborn screening confers clear health benefits for the affected child, the clinical referral of patients with screen positive results can cause significant harm for some...

Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker me...

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that...

Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neo...

Pulse oximetry screening of the well newborn to assist in the diagnosis of critical congenital heart disease (CCHD) is increasingly being adopted. There are advantages to diagnosing CCHD prior to collapse, particularly if this occurs outside of the h...

Despite the progress in the fetal echocardiographic detection of congenital critical heart defects and neonatal physical examination, a significant number of newborn infants are discharged and readmitted to the hospital in severe condition due to car...

A new and fully automated newborn screening method for mass spectrometry was introduced in this paper. Pathological relevant amino acids, acylcarnitines, and certain steroids are detected within 4 min per sample. Each sample is treated in an automate...

As newborn screening (NBS) programs in the US implement expanded screening panels, utilize emerging technologies and identify areas for improvement, the need to establish and maintain a community engagement based national technical assistance center...