the prevalence of primary infection with t. gondii in pregnant women and risk of congenital infection in their neonates in various parts of tehran are unknown. the prevalence rate of antibodies to t. gondii ranges from 24% in tehran to 62.7% in babol. this study describes the epidemiology of toxoplasma infection in pregnant women in tehran and risk factors of congenital toxoplasmosis in newborn...

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in <em>GBA1 </em>gene, causing a dysfunction hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, neurological impairments case neuronopathic types 2 3. Newborn screening, arguably im...

OBJECTIVES The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems. Aim of the study was to examine the scientific evidence of newborn...

BACKGROUND AND OBJECTIVES In 2011, the US Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHDs), yet few estimates of the number of infants with CCHDs likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHDs in the United States likely to be dete...

BACKGROUND Financing for newborn screening is different from virtually all other public health programs. All except 5 screening programs collect fees as the primary source of program funding. A fee-based approach to financing newborn screening has been adopted by most states, to ensure consistent funding for this critical public health activity. METHODS Two types of data are reported here, ie...

Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with presymptomatic testing and necessary follow-up health care for a variety of medical conditions. The goal of this essential public health program is to decrease morbidity and mortality by screening for disorders in which early intervention will improve neonatal and long-term he...

Newborn screening is increasingly possible for conditions that do not have medical treatments that must be provided early in order to be effective. This raises a fundamental question of what information should be disclosed to parents. Historically the potential for treatment has been essential before conditions are included in newborn screening. Here I argue that the distinction between treatab...

BACKGROUND Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptom...