No abstract available.
Humans ; Infant, Newborn* ; Mass Screening*

Humans ; Infant, Newborn ; Neonatal Screening

Legal issues arise if some persons or institutions feel wrongfully treated whether or not this feeling is justified. In neonatal screening, the following topics may be causing legal issues: no screening programme where such a programme should be (UN Convention for the right of the child); neonate(s) not screened for conditions within the established programme; no consent when it should have been given; error(s) in sampling, analysis, reporting; no follow-up available, error(s) in confirmatory diagnostics and treatment; irregular storage of dried blood spot specimen. Legal issues can be solved easily when responsibilities of parties concerned have been established and documented. Unfortunately, legal systems vary from country to country and what has become "normal" practice in one jurisdiction may still be battled about in another. The management of a neonatal screening programme should try to define as best as possible the performance criteria and to have the programme assessed and accredited to certain internationally accepted standards. It diminishes the chances for errors and it helps to avoid legal issues.
Humans ; Infant, Newborn ; Neonatal Screening ; legislation & jurisprudence

No abstract available.
Infant, Newborn ; Metabolism, Inborn Errors* ; Neonatal Screening*

Five years ago, we made the cut-off value of Tsh by dry filter paper method as 15 microU/ml to sereening congenital hypothyroidism. Since then, 1,210 term neonates, who had no perinatal problems, were born in SNUCH between Aug. 1987 and Apr. 1992, had been performed this neonatal Tsh screening test with this cut-off point. Neonates had been recalled for measurement of serum T4/TSH to rule out congenital hypoothyroidism if their TSH value by screening tests reveal more than 15 microU/ml. Because there had been high false-positive rate during 5 years, we felt thiscut-off value of TSH should be set higher than 15 microU/ml with same method. Therefore, we analyzedthis TSH values to set a new cut-off point to recall the neonates. The results ars asbelow: 1) TSH value by dry filter paper method was 8.48+/-4.41 U/ml(mean+/-S.D.) 2) Assuming 15 microU/ml as a cut-off point for recall the neonates, the false positive fate is 8.01% 3) Tomake the false positive rates as 0.3%, it is reasonable to set the cut-off point at 22 microU/ml, whichis +/-3S.D.(99.7 percentile) of measured TSH level by dry filter paper method.
Congenital Hypothyroidism ; Humans ; Infant, Newborn* ; Mass Screening*

Hearing Tests ; Humans ; Infant, Newborn ; Neonatal Screening

Human ; Infant Newborn ; Neonatal Screening ; Policy ; Research

Humans ; Infant, Newborn ; Neonatal Screening ; China

The trial of external quality assessment for inborn error of metabolism was performed in 2003. A total 10 specimens for neonatal screening tests were distributed to 43 laboratories with a response rate of 83%. All the control materials were sent as a filter paper form. Each laboratory replied the test result as the screening items they were doing as a rountine test at the reception of the specimen among PKU screening, neonatal TSH, neonatal T4(total/free), galactosemia screen, homocytinuria screen and histidinemia screen. The mean, SD, and CV were analyzed.
Galactosemias ; Infant, Newborn ; Korea* ; Mass Screening ; Metabolism* ; Neonatal Screening

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.
Humans ; Infant ; Infant, Newborn ; Korea ; Leucine ; Mass Screening ; Metabolic Diseases ; Metabolism ; Neonatal Screening ; Neurologic Manifestations