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30-newborn screening (Bloodscreening (23 different diseases, errors in:…
30-newborn screening
Bloodscreening
23 different diseases, errors in:
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Multisystem disease
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Cong. Hypothyroidism 1/4000, often go unrecognized.
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Amino acid met.
Phenylketonuria 1/10.000 whites -phenylalanine hydroxylase deficiency - phenylalanine accumulation and retardation.
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+slovakia: cerebral, renal, heart and hip USG
Dx. Criteria hemolytic disease
a) jaundice in the first 24h, after the first week of life or if it lasts more than 2 wks. b) Tot. s-bilirubin rises by more than 5mg/dl/day
c) TSB more than 18mg/dl
d) the infant show signs or sympt. of serious illness
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