Transcript Novorozenecký screening

Newborn screening
Doc. MUDr. Marie Černá, CSc.
Lecture No 423-H
What is screening programme?
Newborn screening (NS) is an active
and nation-wide searching of
diseases during their early, preclinical
periods so as to diagnose and treat
these diseases before their clinical
manifestations and subsequently
irreversible health damage of newborns.
Its performance
It is based on the analysis of dry drop
of blood bound to the filter paper – socalled the newborn screening card.
Blood is sampling under defined
conditions from all newborns born in
the region of the Czech Republic
(the 48th -72nd hour of life).
Sampling of blood dry drop
Sampling of blood dry drop
Sampling of blood
dry drop



time sampling
(the 48th – 72nd hour)
sample shipment
every working day
into 2 laboratories
acquainted approval
Numbers of tested diseases
in the U.S.A. (state in 2008):
35
35
29
31
50
45
34
50
49
45
13
51
32
50
47
51
31
52
4
9
37
30
29
33
52 DC
41
48
53
48
29
45
31
32
31
46
24
41
50
52
51
48
45
49
31
44
32
33
54
44
46
35
40
41
31
36
Source: US National Newborn Screening Network, public domain, no copyrights
Numbers of tested diseases
in Europe (state in 2009):
Source: International Society for Neonatal Screening (ISNS)
13 diseases are tested in the
Czech Republic from 1.10.2009:





congenital decreased function of thyroid gland
(congenital hypothyroidism - CH)
congenital insufficiency of hormone production in
adrenal glands
(congenital adrenal hyperplasia - CAH)
congenital disorder of mucus production
(cystic fibrosis - CF)
4 hereditary disturbances of amino acid metabolism
6 hereditary disorders of fatty acid oxidation
Congenital adrenal hyperplasia
Cystic fibrosis
Phenylketonuria
Hereditary disturbances of
amino acid metabolism
–
–
–
–
congenital disturbance of amino acid metabolism
of phenylalanine (phenylketonuria - PKU and
hyperphenylalaninemia - HPA)
congenital disturbance of metabolism of
branching amino acids (leucinosis, Maple syrup
urine disease - MSUD)
glutaric aciduria type I (GA I)
isovaleric aciduria (IVA)
Hereditary disorders of
fatty acid oxidation
–
–
–
–
–
–
medium chain acyl-CoA dehydrogenase deficiency
(MCAD deficiency)
long chain 3-hydroxyacyl-CoA dehydrogenase
deficiency (LCHAD deficiency)
very long chain acyl-CoA dehydrogenase deficiency
(VLCAD deficiency)
carnitine palmitoyl transferase I deficiency (CPT I d.)
carnitine palmitoyl transferase II deficiency (CPT II d.)
carnitine-acylcarnitine translocase deficiency (CACT d.)