OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on tandem mass-spectrometry (tandem MS) for a wide range of disorders of amino acid and organic acid metabolism in the UK. To evaluate screening for cystic fibrosis, Duchenne muscular ...

This report describes our first experience with a clinically important true false positive neonatal screening test for Duchenne muscular dystrophy (DMD). Neonatal screening for DMD began as a pilot programme in Manitoba on 1 January 1986 by analysis of creatine kinase (CK) activity in dried filter paper blood spots. To date, all except two males with positive initial and follow up neonatal CK s...

Introduction: Newborn screening is a systematic application of tests for early detection, diagnosis, and treatment of certain genetic or metabolic disorders that may lead to mortality and morbidity if untreated. As stated by WHO, each year over 330,000 babies are born worldwide with a severe form of hemoglobinopathy. Newborn screening for hemoglobinopathies could become one of the most importan...

OBJECTIVES To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. METHODS Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais. RESULTS The prevalence found was 2.1 for 1,000,000 live ...

objective: although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.method: using panel neonatal screening for detection of metabolic diseases in 650 high risk iranian patie...

The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im­ prove the sensitivity of PKU screening procedures for newborns.

BACKGROUND Developments in screening technology and increased understanding of the natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure to extend neonatal screening programmes. This review aims to assess the evidence for the appropriateness of such programmes. METHODS A formal systematic literature review was conducted. Exclusion and inclusion criteria we...

Background: About 20 years ago, the national neonatal screening program (PNTN) was implemented in Brazil for early screening, diagnosis, and treatment of some diseases, such as hyperphenylalaninemia (HP). This condition with inadequate can result neurological changes intellectual disability autism spectrum disorder (ASD).

This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis ...

In response to your request for advice dated 12 August 2003, I hereby present an advisory report on the screening of newborns. It has been prepared by a Health Council Committee that I established and was reviewed by the Standing Committee on Genetics and the Standing Committee on Medical Ethics and Health Law. The Committee considers the screening criteria that have already been formulated by ...