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Benefit of newborn screening   

Why screen your baby?





 

Disorder Screened

 

Effect if NOT SCREENED

 

Effect if SCREENED and managed

 


 

Severe Mental Retardation

 

Normal

 

CAH (Congenital Adrenal Hyperplasia)

 

Death

 

Alive and normal

 

GAL (Galactosemia)

 

Death or Cataracts

 

Alive and normal

 

PKU (Phenylketonuria)

 

Severe Mental Retardation

 

Normal

 


 

Severe Anemia, Kernicterus

 

Normal

 

Maple Syrup Urine Disorder*

 

Death

 

Alive and normal

source.http://www.newbornscreening.ph/index.php?option=com_content&view=section&id=3&layout=blog&Itemid=60

 

 


 

"Criterion for including a test in NBS Panel"   

Ideally, detection of genetic disorders should occur
very early in life, in a presymptomatic, well individual,
before the metabolic error could disrupt mental or
physical health and growth. The criteria for inclusion
of a test/disorder into a newborn screening program
continue to evolve. Currently the disorders included in
most newborn screening programs essentially meet
the following criteria:
1. have a significant incidence in the population screened,
2. are clinically well defined with the untreated natural history characterized,
3. have a well-defined biochemical phenotype,
4. cause significant morbidity and/or mortality,
5. are treatable, where treatment improves outcome,
6. testing is safe, simple and sufficiently sensitive.
7. specific confirmatory testing is available
8. testing, treatment and treatment outcome are cost effective with respect to non-treatment.
 
source.http://www.ub.edu.ar/centros_de_estudio/ceegmd/documentos/Jones_P_02a.pdf

Dr Archibald Edward Garrod

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