creening information for parents for early detection of ... · newborn hearing screening hearing...
TRANSCRIPT
Ho
w
do
w
e
carr
y
ou
t th
e
mu
cov
isci
do
sis
scre
en
ing
?
No
rma
lly,
no
a
dd
itio
na
l b
loo
d
takin
g
is
ne
cess
ary
fo
r th
is
exa
min
ati
on
. T
he
m
uco
visc
ido
sis
scre
en
ing
ta
ke
s p
lace
a
t th
e
sam
e t
ime
an
d f
rom
th
e s
am
e b
loo
d s
am
ple
wh
ich
wa
s ta
ke
n
fro
m y
ou
r b
ab
y fo
r th
e e
xte
nd
ed
ne
wb
orn
scr
ee
nin
g.
Th
e
lab
ora
tory
fi
rst
de
term
ine
s th
e
so
call
ed
e
nzy
me
imm
un
ore
act
ive
try
psi
n (
IRT
). I
n c
ase
of
a h
eig
hte
ne
d f
act
or,
a
seco
nd
te
st f
or
the
pa
ncr
ea
titi
s a
sso
cia
ted
pro
tein
(P
AP
) ta
kes
pla
ces
fro
m t
he
sa
me
blo
od
sa
mp
le.
If t
he
se
con
d f
act
or
is a
lso
he
igh
ten
ed
, a
DN
A t
est
(g
en
eti
c e
xam
ina
tio
n)
tak
es
pla
ce w
ith
the
a
im
to
de
tect
o
ne
o
f th
e
31
m
ost
fr
eq
ue
ntl
y
ap
pe
ari
ng
ge
ne
tic
alt
era
tio
ns
wh
ich
ap
pe
ar
at
pre
sen
ce o
f m
uco
vis
cid
osi
s.
If
the
fi
rst
test
is
ve
ry
he
igh
ten
ed
o
r a
t le
ast
o
ne
g
en
eti
c
alt
era
tio
n
wa
s d
ete
cte
d,
the
m
uco
vis
cid
osi
s sc
ree
nin
g
is
de
cla
red
to
be
su
spic
iou
s.
A c
om
bin
ati
on
of
the
dif
fere
nt
test
ste
ps
gu
ara
nte
es
a m
axi
mu
m
pre
cisi
on
an
d r
eli
ab
ilit
y o
f th
e t
est
re
sult
s. H
ow
eve
r, i
n v
ery
ra
re
case
s it
is
als
o p
oss
ible
th
at
a c
hil
d f
all
s il
l w
ith
mu
covis
cid
osi
s
an
d
did
n
ot
ha
ve
a
su
spic
iou
s te
st
resu
lt
du
rin
g
this
e
arl
y
de
tect
ion
exa
min
ati
on
.
Wh
at
ha
pp
en
s a
t p
rese
nce
o
f a
su
spic
iou
s
scre
en
ing
re
sult
?
In c
ase
of
a r
esu
lt w
hic
h h
as
to b
e c
on
tro
lle
d a
ga
in,
yo
u a
nd
yo
ur
ba
by
are
re
ferr
ed
to
a s
pe
cia
lise
d m
uco
visc
ido
sis
cen
tre
wh
ere
a
swe
at
test
ta
ke
s p
lace
a
s co
nfi
rma
tio
n
exa
min
ati
on
. P
lea
se
con
sid
er
tha
t a
re
sult
wh
ich
ne
ed
s a
fo
llo
w u
p e
xam
ina
tio
n d
oe
s
no
t m
ea
n t
ha
t y
ou
r n
ew
bo
rn h
as
mu
covis
cid
osi
s. O
nly
on
e o
ut
of
five
ch
ild
ren
wit
h a
su
spic
iou
s re
sult
an
d w
ho
ne
ed
ed
a f
ollo
w
up
exa
min
ati
on
act
ua
lly h
as
mu
covis
cid
osi
s. F
urt
he
rmo
re,
the
swe
at
test
is
ha
rmle
ss a
nd
pa
inle
ss a
nd
do
es
no
t st
ress
yo
ur
ba
by.
Yo
u d
eci
de
fo
r y
ou
r b
ab
y!
Th
e
pa
rtic
ipa
tio
n
in
the
m
ass
scre
en
ing
is
volu
nta
ry.
Als
o t
he
cost
s fo
r th
is
exa
min
ati
on
a
re
take
n
if
you
a
re
insu
red
in
a
sta
tuto
ry h
ea
lth
in
sura
nce
. T
he
resu
lts
of
this
e
xam
ina
tio
n
un
de
rlie
th
e
me
dic
al
con
fid
en
tia
lity
an
d m
ay
no
t b
e
tra
nsm
itte
d
to
oth
er
pe
rso
ns
wit
ho
ut
you
r a
gre
em
en
t.
Th
e
scre
en
ing
la
bo
rato
ry
tra
nsm
its
the
re
sult
s d
ire
ctly
to
th
e
resp
on
sib
le p
ers
on
wh
o c
on
tact
s yo
u i
n c
ase
of
a p
osi
tiv
e r
esu
lt.
Yo
u h
ave
th
e r
igh
t to
re
vo
ke
yo
ur
ag
ree
me
nt
to p
art
icip
ate
in
the
mu
cov
isci
do
sis
ma
ss s
cre
en
ing
at
an
y t
ime
.
No
tice
:
Als
o a
n e
arl
y tr
ea
tme
nt
can
no
t p
reve
nt
con
seq
ue
nce
s o
f
the
me
nti
on
ed
dis
ea
ses
com
ple
tely
in
all
ca
ses.
Ho
we
ve
r,
an
im
me
dia
te
tre
atm
en
t m
ak
es
a
no
rma
l d
eve
lop
me
nt
po
ssib
le f
or
con
cern
ed
ch
ild
ren
in
th
e m
ost
ca
ses.
Imp
ort
an
t F
RA
ME
wo
rk c
on
dit
ion
s
•
Th
e p
art
icip
ati
on
in
th
e n
ew
bo
rn s
cre
en
ing
exa
min
ati
on
s is
vo
lun
tary
. Y
ou
r a
gre
em
en
t to
pa
rtic
ipa
te i
ncl
ud
es
a t
est
fo
r
the
he
re m
en
tio
ne
d d
ise
ase
s.
•
Da
ta p
rote
ctio
n:
Th
e f
ilte
r p
ap
er
card
an
d t
he
pa
rt w
ith
pe
rso
na
l d
ata
of
yo
u a
nd
yo
ur
ba
by a
re s
ep
ara
ted
aft
er
the
an
aly
ses
ha
ve
b
ee
n
fin
ish
ed
. T
he
e
xam
ine
d
dri
ed
b
loo
d
sam
ple
is
de
stro
ye
d a
fte
r fi
nis
hin
g o
f a
ll a
na
lyse
s (a
t th
e
late
st a
fte
r 3
mo
nth
s).
•
Th
e
resu
lts
of
the
e
xam
ina
tio
ns
un
de
rlie
th
e
me
dic
al
con
fid
en
tia
lity
a
nd
m
ay
no
t b
e
tra
nsm
itte
d
to
oth
er
pe
rso
ns
wit
ho
ut
yo
ur
ag
ree
me
nt.
•
Th
e co
sts
for
this
e
xam
ina
tio
n a
re
ov
ert
ake
n
if y
ou
a
re
insu
red
in
a s
tatu
tory
he
alt
h i
nsu
ran
ce.
If y
ou
are
pri
va
tely
insu
red
th
e c
ost
s a
re n
orm
all
y a
lso
ov
ert
ake
n,
ho
we
ve
r, f
or
furt
he
r d
eta
ils
ple
ase
co
nta
ct y
ou
r in
sura
nce
co
mp
an
y.
In
ca
se y
ou
ha
ve
an
y f
urt
he
r q
ue
stio
ns
ab
ou
t th
e t
op
ic o
f th
e
ne
wb
orn
scr
ee
nin
g,
ple
ase
co
nta
ct y
ou
r m
ate
rny c
lin
ic o
r yo
ur
pa
ed
iatr
ist.
Ou
r te
am
of
the
ne
wb
orn
scr
ee
nin
g l
ab
ora
tory
wis
he
s y
ou
an
d y
ou
r b
ab
y a
ll t
he
be
st f
or
yo
ur
futu
re.
Un
ive
rsit
äts
kli
nik
um
Ma
gd
eb
urg
A .
ö.R
.
Ott
o-v
on
-Gu
eri
cke
-Un
ive
rsit
ät
Inst
itu
t fü
r K
lin
isch
e C
he
mie
un
d
Pa
tho
bio
che
mie
Lab
or
für
Ne
ug
eb
ore
ne
nsc
ree
nin
g
Leip
zig
er
Str
aß
e 4
4 /
Ha
us
39
39
12
0 M
ag
de
bu
rg -
Ge
rma
ny
Te
lep
ho
ne
: +
49
39
1 6
7-1
39
59
Te
lefa
x:
+4
9 3
91
67
-29
03
61
ng
-scr
ee
nin
g@
me
d.o
vg
u.d
e
ww
w.s
twz.
ovg
u.d
e
ww
w.m
ed.u
ni-
mag
debu
rg.d
e
Fly
er
Da
te:
01
/20
17
Wh
ich
dis
ea
ses
are
in
clu
de
d i
n t
he
ne
wb
orn
scre
en
ing
?
Co
ng
en
ita
l a
dre
na
l
hy
pe
rpla
sia
E
nd
ocr
ine
d
iso
rde
r d
ue
to
d
efe
ct
of
the
a
dre
na
l co
rte
x:
an
dro
ge
nis
ati
on
at
gir
ls,
po
ssib
le
leth
al
ou
tco
me
a
t
salt
w
ast
ing
cr
isis
. T
rea
tme
nt
by
ho
rmo
ne
in
tak
e.
(Fre
qu
en
cy:
ap
pro
x.
1/1
0,0
00
ne
wb
orn
s)
Ma
ple
sy
rup
uri
ne
dis
ea
se
De
gra
da
tio
n
de
fect
o
f a
min
o
aci
ds:
me
nta
lly
ha
nd
ica
pp
ed
, co
ma
, p
oss
ible
leth
al
ou
tco
me
. T
rea
tme
nt
by
sp
eci
al
die
t.
(Fre
qu
en
cy:
ap
pro
x.
1/2
00
,00
0
ne
wb
orn
s)
Bio
tin
ida
se d
efi
cie
ncy
M
eta
bo
lic
de
fect
o
f th
e
vit
am
in
bio
tin
: S
kin
a
lte
rati
on
, m
eta
bo
lic
cris
is,
me
nta
lly
h
an
dic
ap
pe
d.
Tre
atm
en
t b
y
bio
tin
in
tak
e.
(Fre
qu
en
cy:
1/8
0,0
00
ne
wb
orn
s)
Ca
rnit
ine
me
tab
oli
c d
iso
rde
r M
eta
bo
lic
dis
ord
er
of
fatt
y
aci
ds:
me
tab
oli
c cr
isis
, co
ma
, p
oss
ible
le
tha
l
ou
tco
me
. T
rea
tme
nt
by
sp
eci
al
die
t.
(Fre
qu
en
cy:
ap
pro
x.
1/1
00
,00
0
ne
wb
orn
s)
Ga
lact
ose
mia
Im
pa
ire
d
me
tab
oli
sm
of
lact
ose
sug
ars
: B
lin
dn
ess
, p
hy
sica
l a
nd
inte
lle
ctu
al
dis
ab
ilit
y,
live
r fa
ilu
re,
po
ssib
ly r
esu
ltin
g i
n d
ea
th.
Tre
atm
en
t
thro
ug
h a
sp
eci
al
die
t
(Fre
qu
en
cy:
ap
pro
x.
1/4
0,0
00
ne
wb
orn
s).
Glu
tari
c a
cid
em
ia t
yp
e 1
D
eg
rad
ati
on
d
efe
ct
of
am
ino
a
cid
s:
pe
rma
ne
nt
mo
ve
me
nt
dis
ord
er,
sud
de
n m
eta
bo
lic
cris
is.
Tre
atm
en
t b
y
spe
cia
l d
iet.
(F
req
ue
ncy
: a
pp
rox.
1/8
0,0
00
ne
wb
orn
s)
Hy
po
thy
reo
sis
Co
ng
en
ita
l h
yp
oth
yro
sis:
S
eve
re
me
nta
lly
a
nd
p
hy
sica
l d
eve
lop
me
nt
dis
ord
er.
Tre
atm
en
t b
y h
orm
on
e i
nta
ke
.
(Fre
qu
en
cy:
ap
pro
x. 1
/4,0
00
ne
wb
orn
s)
Iso
va
leri
c a
cid
ae
mia
: D
eg
rada
tio
n defe
ct
of
am
ino acid
s:
me
nta
lly
ha
nd
ica
pp
ed
, com
a.
Tre
atm
en
t b
y s
pe
cia
l die
t an
d i
nta
ke
of
am
ino a
cid
s.
(Fre
qu
en
cy:
app
rox.
1/5
0,0
00 n
ew
born
s)
LCH
AD
/VLC
AD
M
eta
bolic
defe
ct
of
long-c
hain
fa
tty
acid
s:
meta
bolic
crisis
, com
a,
mya
sth
enia
, m
yocard
ial in
suff
icie
ncy,
po
ssib
le
leth
al
outc
om
e.
Tre
atm
ent
by
spe
cia
l d
iet,
pre
ve
ntion
of
sta
rva
tio
n
peri
od
s.
(Fre
qu
en
cy:
ap
pro
x. 1
/80
,000
ne
wbo
rns)
MC
AD
-de
fici
en
cy
En
erg
y
pro
du
ctio
n
de
fect
fr
om
fa
tty
aci
ds:
m
eta
bo
lic
cris
is,
com
a,
po
ssib
le
leth
al
ou
tco
me
. T
rea
tme
nt
by
in
tak
e o
f
carn
itin
e,
pre
ven
tio
n
of
sta
rva
tio
n
pe
rio
ds.
(F
req
ue
ncy
: a
pp
rox.
1
/10
,00
0
ne
wb
orn
s)
Ph
en
ylk
eto
nu
ria
M
eta
bo
lic
de
fect
o
f th
e
am
ino
a
cid
ph
en
yla
lan
in:
seiz
ure
s,
spa
stic
ity
,
me
nta
lly
h
an
dic
ap
pe
d.
Tre
atm
en
t b
y
spe
cia
l d
iet.
(F
req
ue
ncy
: a
pp
rox.
1/1
0,0
00
ne
wb
orn
s)
Mu
cov
isci
do
sis
(sin
ce 0
9/2
01
6)
Als
o
call
ed
cy
stic
fi
bro
sis.
D
efe
ct
of
a
tra
nsp
ort
pro
tein
(C
FT
R).
Ca
use
s a
sa
lt
exc
ha
ng
e
dis
ord
er
in
the
g
lan
d
cell
s.
Vis
cou
s m
uco
us
form
ati
on
in
th
e
resp
ira
tory
tr
act
a
nd
o
rga
ns
wh
ich
be
com
e
pe
rma
ne
ntl
y
infl
am
ed
. R
eli
ef
an
d
imp
rov
em
en
t o
f sy
mp
tom
s b
y
foll
ow
ing
tr
ea
tme
nt:
in
ha
lati
on
,
ph
ysi
oth
era
py
, sp
eci
al
die
t,
dru
gs.
(Fre
qu
en
cy:
1/3
,30
0 n
ew
bo
rns)
Ne
wb
orn
he
ari
ng
scr
ee
nin
g
He
ari
ng
d
iso
rde
rs a
re
the
m
ost
fr
eq
ue
nt
sen
sory
d
iso
rde
rs
du
rin
g
infa
ncy
w
ith
mu
ltip
le r
ea
son
s, p
art
ly a
pp
ea
rin
g i
n c
om
bin
ati
on
wit
h o
the
r d
ise
ase
s (c
ard
iac-
,
ren
al-
an
d v
isu
al
dis
ord
ers
). E
arl
y d
ete
ctio
n a
nd
th
era
py
sta
rtin
g a
re c
on
dit
ion
fo
r
an
o
pti
ma
l li
ng
uis
tic
an
d
me
nta
l d
ev
elo
pm
en
t.
To
o
late
d
ete
ctio
n
cau
ses
pe
rma
ne
nt
da
ma
ge
s. T
he
rap
y:
am
on
g o
the
rs s
up
po
rt,
he
ari
ng
de
vic
e s
up
ply
an
d i
f
ne
cess
ary
co
chle
a i
mp
lan
t. (
Fre
qu
en
cy a
pp
rox.
1-3
/10
00
ne
wb
orn
s)
NE
WB
OR
N S
CR
EE
NIN
G
Info
rma
tio
n f
or
pa
ren
ts
For
ea
rly
de
tect
ion
of
con
ge
nit
al
dis
ord
ers
at
ne
wb
orn
s.
Incl
usi
ve
- S
cre
en
ing
fo
r m
uco
vis
cid
osi
s
De
ar
pa
ren
ts,
yo
u e
xpe
ct yo
ur
ba
by t
o b
e b
orn
soo
n
or
it
just
cam
e
into
th
e
wo
rld
. Y
ou
de
ep
ly w
ish
th
at
it
wil
l g
row
u
p
he
alt
hy.
Fo
r th
is
rea
son
o
ur
ha
nd
ou
t in
form
s
you
a
bo
ut
the
e
arl
y d
ete
ctio
n
exa
min
ati
on
s o
f th
e
Ne
wb
orn
Scr
ee
nin
g,
wh
ich
ta
ke
s p
lace
on
ly a
fe
w d
ays
aft
er
bir
th o
f yo
ur
ba
by.
Wh
y d
o w
e c
arr
y o
ut
ea
rly
de
tect
ion
exa
min
ati
on
s?
Mo
st c
hil
dre
n a
re b
orn
he
alt
hy a
nd
als
o s
tay
he
alt
hy
du
rin
g t
he
ir
life
. H
ow
eve
r, s
om
e n
ew
bo
rns
are
aff
ect
ed
by
rare
ly a
pp
ea
rin
g
con
ge
nit
al
dis
ea
ses
wh
ich
a
re
no
t d
ete
cta
ble
b
y o
ute
r si
gn
s.
Ap
pro
xim
ate
ly,
on
e o
ut
of
10
00
ne
wb
orn
s su
ffe
rs f
rom
su
ch a
rare
ly a
pp
ea
rin
g c
on
ge
nit
al
dis
ord
er
of
the
me
tab
oli
sm o
r o
f th
e
org
an
fu
nct
ion
a
nd
it
s h
ea
lth
is
th
ere
by
in
da
ng
er.
A
n
ea
rly
tre
atm
en
t a
fte
r b
irth
ca
n
avo
id
con
seq
ue
nce
s o
f co
ng
en
ita
l
dis
ea
ses
in
the
m
ost
ca
ses.
T
he
refo
re,
ev
ery
n
ew
bo
rn
in
Ge
rma
ny
is
exa
min
ed
a
lre
ad
y
for
mo
re
tha
n
30
ye
ars
. T
he
me
tab
olic
test
s a
re
imp
rov
ed
st
ea
dil
y
an
d
furt
he
r tr
ea
tab
le
dis
ea
ses
ha
ve
be
en
in
clu
de
d i
nto
th
e e
xam
ina
tio
ns.
Wh
en
pa
rtic
ipa
tin
g i
n t
his
in
ve
stig
ati
on
pro
gra
m y
ou
he
lp t
o
en
sure
th
e h
ea
lth
ine
ss o
f y
ou
r b
ab
y.
If y
ou
are
in
sure
d u
nd
er
a
sta
tuto
ry i
nsu
ran
ce p
lan
, n
o f
urt
he
r co
sts
ari
se.
Wh
en
an
d h
ow
do
we
ca
rry
ou
t
the
exa
min
ati
on
s?
Th
e s
cre
en
ing
exa
min
ati
on
s ta
ke
pla
ce d
uri
ng
th
e s
eco
nd
or
thir
d
da
y o
f li
fe
(36
th
- 7
2n
d
ho
ur
aft
er
bir
th),
w
he
re
ap
pro
pri
ate
als
o i
n c
on
ne
ctio
n w
ith
th
e s
eco
nd
ea
rly
de
tect
ion
exa
min
ati
on
o
f th
e
ne
wb
orn
(s
o-c
all
ed
U
2).
A
fe
w
dro
ps
of
blo
od
are
ta
ke
n f
rom
ve
in o
r h
ee
l o
f th
e n
ew
bo
rn a
nd
dro
pp
ed
on
th
e c
orr
esp
on
din
g f
ilte
r p
ap
er
card
wit
h t
he
pu
rpo
se t
o b
e
sen
d
imm
ed
iate
ly
aft
er
dry
ing
to
th
e
scre
en
ing
la
bo
rato
ry.
Th
ere
, th
e
sam
ple
s a
re
exa
min
ed
in
sta
ntl
y
by
ve
ry
spe
cia
l,
sen
siti
ve
me
tho
ds.
Wh
ich
dis
ea
ses
can
be
de
tect
ed
by
ou
r N
ew
bo
rn S
cre
en
ing
?
Co
ng
en
ita
l h
yp
oth
yre
osi
s, c
on
ge
nit
al
ad
ren
al
hy
po
pla
sia
(C
AH
),
bio
tin
ida
se
de
fici
en
cy,
ga
lact
ose
mia
, p
he
ny
lke
ton
uri
a
(PK
U)/
hyp
erp
he
nyla
lan
ine
mia
(H
PA
),
ma
ple
sy
rup
u
rin
e
dis
ea
se
(MS
UD
), f
att
y a
cid
me
tab
oli
sm d
efe
cts
(MC
AD
-, L
CH
AD
-, V
LCA
D
de
fici
en
cy),
ca
rnit
ine
cycl
e d
efi
cie
nci
es,
glu
tari
c a
cid
uri
a t
yp
e I
an
d i
sov
ale
ric
aci
da
em
ia (
IVA
) (d
ise
ase
s e
xact
ly d
esc
rib
ed
in
th
e
foll
ow
ing
). A
te
st f
or
mu
covi
scid
osi
s (c
yst
ic f
ibro
sis)
fo
rms
pa
rt
of
the
scr
ee
nin
g s
ince
20
16
. In
mo
st o
f th
e c
on
cern
ed
fa
mil
ies
such
dis
ea
ses
did
no
t a
pp
ea
r b
efo
re.
Th
e n
ew
bo
rn s
cre
en
ing
is
of
gre
at
imp
ort
an
ce b
eca
use
co
nce
rne
d n
ew
bo
rns
oft
en
se
em
to
be
e c
om
ple
tely
he
alt
hy a
t b
irth
. W
e w
an
t to
pro
tect
th
em
fro
m
sev
ere
dis
ea
ses
an
d t
he
ir c
on
seq
ue
nce
s su
ch a
s se
ve
re d
iso
rde
rs
in m
en
tal
an
d p
hysi
cal
de
ve
lop
me
nt.
So
me
of
the
me
nti
on
ed
dis
ea
ses
are
in
he
rite
d.
Fo
r th
is r
ea
son
th
e n
ew
bo
rn s
cre
en
ing
exa
min
es
ge
ne
tic
tra
its
an
d i
s th
ere
fore
of
cou
rse
su
bje
cte
d t
o
the
re
gu
lati
on
s o
f th
e G
en
e D
iag
no
stic
s A
ct.
Wh
at
do
es
the
te
stin
g r
esu
lt t
ell
us?
T
he
re
sult
o
f a
sc
ree
nin
g
test
is
n
o
me
dic
al
dia
gn
osi
s a
nd
a
req
ue
st
for
a
follo
w
up
e
xam
ina
tio
n
do
es
no
t a
uto
ma
tica
lly
me
an
th
at
yo
ur
ba
by
is
ill.
By m
ea
ns
of
the
te
stin
g r
esu
lt i
t is
po
ssib
le r
ath
er
to e
xclu
de
th
e c
on
cern
ed
in
vest
iga
ted
dis
ord
ers
or
to r
eq
uir
e a
no
the
r d
iag
no
stic
exa
min
ati
on
up
on
su
spic
ion
of
a
dis
ea
se.
Ho
we
ve
r, a
re
pe
titi
on
of
a t
est
ca
n a
lso
be
ne
cess
ary
in
case
th
e p
oin
t o
f ti
me
of
blo
od
ta
kin
g w
as
no
t o
pti
ma
l o
r th
e
am
ou
nt
of
blo
od
wa
s n
ot
suff
icie
nt
for
all
te
sts.
We
kin
dly
ask
yo
u
to
rea
ct
qu
ickl
y
wh
en
yo
u
are
a
ske
d
to
pa
rtic
ipa
te
in
a
foll
ow
up
exa
min
ati
on
. It
is
in t
he
in
tere
st o
f yo
ur
ba
by
wh
en
th
e
situ
ati
on
is
cla
rifi
ed
ra
pid
ly.
Is it
po
ssib
le t
o c
ure
th
ese
dis
ea
ses?
All
m
en
tio
ne
d
me
tab
oli
c d
efe
cts
an
d e
nd
ocr
ine
d
iso
rde
rs
are
con
ge
nit
al
an
d c
an
no
t b
e c
ure
d.
Ho
we
ve
r, t
he
co
nse
qu
en
ces
of
the
se c
on
ge
nit
al
dis
ord
ers
ca
n b
e p
rev
en
ted
or
at
lea
st r
ed
uce
d
by a
n e
arl
y t
rea
tme
nt.
Tre
atm
en
t d
oe
s m
ea
n e
ith
er
a s
pe
cia
l
die
t a
nd
or
the
in
tak
e o
f ce
rta
in d
rug
s. I
n c
ase
of
mu
covis
cid
osi
s
the
re a
re n
ew
, im
pro
ve
d t
he
rap
eu
tic
ap
pro
ach
es,
so
th
at
the
lif
e
exp
ect
an
cy o
f co
nce
rne
d p
ati
en
ts h
as
incr
ea
sed
co
nti
nu
ou
sly.
Sp
eci
ali
sts
for
me
tab
oli
sm,
ho
rmo
ne
s a
nd
mu
cov
isci
do
sis
are
at
yo
ur
dis
po
sal
for
con
sult
ati
on
an
d s
up
po
rt i
n c
ase
of
susp
icio
n o
f
a d
ise
ase
or
illn
ess
.
Wh
o
is
info
rme
d
ab
ou
t th
e
test
ing
re
sult
?
In e
ve
ry c
ase
th
e s
en
de
r o
f th
e b
loo
d s
am
ple
(m
ate
rny c
lin
ic,
pa
ed
iatr
ist)
re
ceiv
es
wit
hin
a f
ew
da
ys
a w
ritt
en
fin
din
g a
bo
ut
the
re
sult
o
f th
e
ho
rmo
ne
, m
eta
bo
lism
a
nd
m
uco
vis
cid
osi
s
scre
en
ing
. T
he
re
sult
un
de
rlie
s th
e m
ed
ica
l co
nfi
de
nti
ali
ty a
nd
ma
y n
ot
be
tr
an
smit
ted
to
a
ny
oth
er
pe
rso
n
wit
ho
ut
yo
ur
de
cla
rati
on
of
con
sen
t. Y
ou
as
pa
ren
ts d
o n
orm
all
y n
ot
rece
ive
the
fin
din
g.
In u
rge
nt
case
s yo
u w
ill
be
co
nta
cte
d i
mm
ed
iate
ly.
Th
ere
fore
, w
e k
ind
ly a
sk y
ou
to
in
dic
ate
yo
ur
tele
ph
on
e n
um
be
r
an
d a
dd
ress
on
th
e t
est
ing
ca
rd,
wh
ere
yo
u c
an
be
co
nta
cte
d
du
rin
g t
he
fir
st d
ays
aft
er
bir
th o
f yo
ur
ba
by.
Th
e f
oll
ow
ing
ap
pli
es
for
yo
u:
No
Ne
ws
are
Go
od
Ne
ws
E
arl
y d
ete
ctio
n a
nd
tre
atm
en
t o
f co
nce
rne
d n
ew
bo
rns
is o
nly
po
ssib
le
wh
en
a
ll
pa
rtie
s su
ch
as
pa
ren
ts,
ma
tern
y cl
inic
,
pa
ed
iatr
ist
an
d
scre
en
ing
la
bo
rato
ry
wo
rk
tog
eth
er
wit
ho
ut
wa
stin
g
of
tim
e
in
ord
er
to
fin
ish
th
e
test
ing
re
sult
s
imm
ed
iate
ly a
nd
te
sts
can
b
e
rep
ea
ted
if
ne
cess
ary
. Y
ou
a
re
on
ly
info
rme
d
ab
ou
t
un
susp
icio
us
test
ing
resu
lts
up
on
p
ers
on
al
req
ue
st
at
yo
ur
ma
tern
y
clin
ic
or
pa
ed
istr
ist.
Scr
ee
nin
g f
or
mu
covi
scid
osi
s A
t th
e s
am
e t
ime
wit
h a
n e
nla
rge
d n
ew
bo
rn s
cre
en
ing
yo
u a
re
off
ere
d a
ma
ss s
cre
en
ing
fo
r m
uco
vis
cid
osi
s a
fte
r b
irth
of
yo
ur
ba
by.
Aim
o
f th
is
scre
en
ing
is
a
n
ea
rly
d
ete
ctio
n
of
mu
covi
scid
osi
s so
th
at
a t
he
rap
y ca
n s
tart
as
soo
n a
s p
oss
ible
an
d
the
q
ua
lity
o
f li
fe
an
d
life
e
xpe
cta
ncy
o
f ch
ild
ren
w
ith
mu
covi
scid
osi
s ca
n b
e i
mp
rov
ed
.
Wh
at
is m
uco
vis
cid
osi
s?
Mu
covis
cid
osi
s (a
lso
ca
lle
d c
yst
ic f
ibro
sis)
is
a c
on
ge
nit
al
dis
ea
se
wh
ich
a
pp
ea
rs
ap
pro
xim
ate
ly
at
on
e
ou
t o
f 3
30
0
ne
wb
orn
s.
He
re,
a g
en
e a
lte
rati
on
of
the
so
ca
lle
d C
FT
R g
en
e c
au
ses
a s
alt
exc
ha
ng
e
dis
ord
er
in
the
g
lan
d
cell
s.
Th
is
cau
ses
the
de
ve
lop
me
nt
of
vis
cou
s m
ucu
s in
th
e r
esp
ira
tory
tra
ct a
nd
oth
er
org
an
s w
hic
h
the
refo
re
be
com
e
chro
nic
all
y
infl
am
ed
. T
he
sev
eri
ty o
f sy
mp
tom
s ca
n v
ary
du
e t
o d
iffe
ren
t g
en
e a
lte
rati
on
s.
Als
o
the
p
an
cre
ati
c fu
nct
ion
is
li
mit
ed
. T
he
refo
re
con
cern
ed
chil
dre
n a
re o
fte
n u
nd
erw
eig
ht
an
d d
o n
ot
gro
w v
ery
go
od
. In
sev
ere
ca
ses
an
d
in
case
o
f fr
eq
ue
ntl
y
ap
pe
ari
ng
lu
ng
infl
am
ma
tio
ns
the
p
ulm
on
ary
fu
nct
ion
ca
n
be
si
gn
ific
an
tly
imp
air
ed
.
Wh
y d
oe
s a
ma
ss s
cre
en
ing
fo
r m
uco
vis
cid
osi
s
ma
ke
s se
nse
?
A m
ass
scr
ee
nin
g f
or
mu
covis
cid
osi
s e
na
ble
s a
n e
arl
y d
iag
no
sis.
An
d
an
e
arl
y
the
rap
y
sta
rtin
g
can
im
pro
ve
th
e
ph
ysi
cal
de
ve
lop
me
nt
of
con
cern
ed
ch
ild
ren
. T
he
reb
y t
he
ch
an
ce o
f a
lon
ge
r a
nd
mo
re h
ea
lth
y lif
e i
ncr
ea
ses.
Ho
w c
an
mu
cov
isci
do
sis
be
tre
ate
d?
A
t th
e m
om
en
t th
ere
is
no
he
ali
ng
th
era
py
for
mu
covi
scid
osi
s.
Ho
we
ve
r,
the
sy
mp
tom
s ca
n
be
im
pro
ve
d
or
reli
ev
ed
b
y
dif
fere
nt
the
rap
ies,
so
th
at
the
li
fe
exp
ect
an
cy
ha
s in
cre
ase
d
con
tin
uo
usl
y
du
rin
g
the
la
st
de
cad
es.
T
he
tr
ea
tme
nt
of
mu
covi
scid
osi
s co
nsi
sts
in i
nh
ala
tio
ns
an
d p
hy
sio
the
rap
y,
a d
iet
wh
ich
is
e
xtre
me
ly
rich
in
ca
lori
es
an
d
the
in
tak
e
of
dru
gs.
Fu
rth
erm
ore
, it
is
u
sefu
l to
a
tte
nd
co
nst
an
tly
ce
rta
in
con
tro
l
exa
min
ati
on
s in
sp
eci
ali
sed
mu
covi
scid
osi
s ce
ntr
es
to d
ete
ct a
nd
tre
at
ea
rly
cha
ng
es
of
the
dis
ea
se.