Screening for cystic fibrosis (CF) was recently added to the neonatal screening programme in the Netherlands. Four patients with renal failure whose heel prick tests were positive for CF as defined by raised levels of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) are described. Both cystic fibrosis transmembrane conductance regulator (CFTR) DNA analysis and sweat te...

OBJECTIVES AND METHOD The Medical Advisory Secretariat undertook a review of the evidence on the effectiveness and cost-effectiveness of using tandem mass spectrometer [MS/MS] for the neonatal screening of inborn errors of metabolism [IEM]. The review is based on two systematic reviews commissioned by the National Health Services (United Kingdom) and relevant research literature that was publis...

Introduction: Congenital hypothyroidism is the most common endocrine disease and is a major cause of preventable mental retardation. In most cases, it seems quite natural born at birth with delayed diagnosis, complications will cause irreparable brain. Now almost all industrialized countries and many developing countries the newborn screening program to systematically do. Khorasan Province neon...

BACKGROUND Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China. MATERIAL/METHODS A total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Provinc...

Background In Indonesia one of the challenges in implementing neonatal screening for congenital hypothyroidism (CH) is early discharge of infants, therefore we could not avoid to take the specimens between 24 to 48 hours of age, resulted in high false-positive rate. Since the begining of the neonatal screening program, radioimmunoassay (RIA) was used for primary TSH screening. Fluoroimmunoassay...

Background: Hearing loss is one of the most common birth defects and early detection of this disorder at birth is not possible without hearing screening. The aim of this study was to determine the frequency of loss to-follow-up after neonatal hearing screening and its related factors in KhoramAbad Province - Iran. Methods: This retrospective correlational study was conducted in the time period...

BACKGROUND In the last years Italy is confronting with massive migratory movements from developing countries where hemoglobinopathies are widespread. This is causing a large diffusion and a changing spectrum in the epidemiology of hemoglobin disorders in Italy. METHODS Investigations recently published in Italy on hemoglobinopathies among immigrants were revised in order to appreciate the imp...

Newborn screening has provided a model of a successful public health screening program for the past 40 years. However, the history of newborn screening is not without controversy. Many of these controversies have been rekindled with the introduction of tandem mass spectrometry, a technology that has greatly increased our ability to detect potential disease in asymptomatic newborns. This review ...

Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.