Transcript Az egyesülések számviteli kezelése

– Sample collection
– Assay
– Data evaluation
– Reporting
Dried Blood Spot (DBS) collection for
newborn screening
– Timing
– Blood collection
– Package and transfer
PONZONE ET AL. J Pediatr Gastroenterol Nutr 46(5), 2008
Newborn with PKU on a diet without
phenylalanine
Catabolism
•
Etiology:
–
–
–
–
•
Birth stress
Postnatalis éhezés
Low energy intake
Immature enzyme systems
Clinical symptoms:
– Weight loss
– Increased nitrogen excretion (urine)
•
Metabolite levels change related to time
•
Maximal sensitivity and specificity:
2-6 days after birth
Time of blood collection
0.
1.
24
2.
48
Limited Acceptable
4.
3.
72
96
nap
120 óra
Optimal
(Newborn Screening in New York State, 2003)
Incidence
•
Hypothyroidism:
2005-6:
23/126 =
2009-2010: 28/129 =
•
Classic PKU:
< 2007
~1 / 9 000
2008-2010
1 / 8 333
21,7%
18,2%
Criteria: 60 ml milk/formula intake
?
Screening test for galactosemia – blood galactose
level
Repeated sample is needed 2 weeks and 60days
after blood transfusion
Factors with influence on metabolite
levels
– Feeding – parenteral feeding
– Blood transfusion
– Gestational age
– Drugs
Beküldő intézet (pecsét):
Orvos (pecsétszám):
Gyermek családi neve:
Utóneve:
Születési dátum:
└┴┴┴┴┴┴┴┘
❏♂ ❏♀
Születési súly:
└┴┴┴┘g
Terhességi hét:└┴┘
Vérvétel időpontja
└┴┴┴┴┴┴┴┘
A vérvétel időpontjában a baba:
□ 48 óránál idősebb
□ 48 óránál fiatalabb
□ koraszülött
Figyelem! Kötelező
□ transzfúzió
a szűrővizsgálat
□ 2. vérvétel
megismétlése!
Táplálás: □ anyatej □ tápszer □ parenter.
Gyógyszerek:
Anya családi neve:
Utóneve:
TAJ:
Telefon:
Irányítószám:
Település:
Utca, házszám:
Szegedi Tudományegyetem, Gyermekgyógyászati Klinika
Anyagcsere laboratórium • Újszülöttkori szűrés
6720 Szeged, Korányi fasor 14-15.
Telefon: (06 62) 54 59 51
Fax: (06 62) 54 53 29
•
Correctly complete all the
information on the card
Metabolic Laboratory, Dept. Pediatrics,
Univ Szeged
Birth date:
Name:
Repeated testing
– Gestational age < 32 weeks
– Blood collection < 48 h after birth
– Food intake < 60 ml
– Blood tansfusion/parenteral feeding
Site of puncture
•
•
Newborns, small infants (<9kg)
– Heel
– Do not puncture the fingers
Larger infants (> 9kg)
– Heel or lateral aspect of the big toe
– Do not puncture the fingers
– Stick fingers in children > 2 years of age
Safe
Safe
•
Clean site with alcohol
•
Allow to air dry for 30 seconds
•
Puncture to a depth less than 2 mm using a sterile
lancet
•
Wipe away first blood with sterile gauze pad
•
The initial drop contains tissue fluid that may
dilute the specimen
•
Allow another large blood drop to form
•
Lightly touch the filter paper to the large drop of blood
•
Avoid touching the spots
•
Allow to soak through and completely fill the circle
•
Apply blood to one side of the filter paper only
•
Do not layer successive drops of blood or apply
blood more than once to the same collection circle
•
Fill remaining circles in the same manner with
successive drops of blood
•
If blood flow is diminished repeated puncturing
may be necessary
•
Inspect card to ensure you have collected
enough blood, and the specimen is valid
Valid Specimen
•
Place filter paper on a
horizontal surface and
AIR DRY for at least 3
hours
•
Keep away from direct
sunlight, heat and dust
•
Do not allow blood
spots to come into
contact with any
surface or each other
•
Do not store, transport
cards every day
Valid and invalid DBS
Invalid DBS
Assay
QC
•
•
CDC:
amino acids (Phe, Tyr),
galactose,
TSH
17OH-progesterone
Interlaboratory Quality Assurance for
Newborn Screening (Geesthacht,
Germany):
Phe,
galactose
•
ERNDIM:
Evaluation of data
Cut-off levels
Normal Population
Normal Population
Number of neonates
True
Negatives
Affected
Affected
Fals
Positives
True
positives
Fals
Negatives
Mean
(Normal)
Cut-Off
Mean
(Affected)
Analyte concentration
Sahai I, Marsden D: Crit Rev Clin Lab Sci 46(2):55-82,2009
Screening test performance
•
•
•
•
•
•
Sensitivity
Specificity
False negative rate
False positive rate
Positive predictive value
Negative predictive value
Problems
•
Incorrect blood sampling
•
Repeated sample
- parents not found
Keep in mind
•
Screening assay
•
Does not exclude all metabolic
disorders
Second-tier tests
• Beutler-test
• BH4-assay
• T3, T4
• Steroid profile
Mutation analysis
•
Diagnosis
•
Prognostic value
•
Prenatal diagnosis
Protocols
Analytical side
screening
follow up
-
Clinical side
therapy
follow up
Anyagcsere betegségek
újszülöttkori
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