1 640 727,43 EUR Newborn screening Eszter Karg SCREENGEN: 1st Joint Workshop Szeged 27-29.06.2011.

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1 1 640 727,43 EUR Newborn screening Eszter Karg SCREENGEN: 1st Joint Workshop Szeged 27-29.06.2011

2 – Sample collection – Assay – Data evaluation – Reporting

3 Dried Blood Spot (DBS) collection for newborn screening –Timing –Blood collection –Package and transfer

4 PONZONE ET AL. J Pediatr Gastroenterol Nutr 46(5), 2008 Newborn with PKU on a diet without phenylalanine

5 Etiology: –Birth stress –Postnatalis éhezés –Low energy intake –Immature enzyme systems Clinical symptoms: –Weight loss –Increased nitrogen excretion (urine) Catabolism

6 Metabolite levels change related to time Maximal sensitivity and specificity: 2-6 days after birth

7 Time of blood collection 0. 1. 3. 4. 2.nap 24 48 72 96 120 óra Limited Acceptable Optimal (Newborn Screening in New York State, 2003)

8 Hypothyroidism: 2005-6: 23/126 = 18,2% 2009-2010:28/129 = 21,7% Classic PKU: < 2007 ~1 / 9 000 2008-2010 1 / 8 333 Incidence

9 Criteria: 60 ml milk/formula intake ? Screening test for galactosemia – blood galactose level Repeated sample is needed 2 weeks and 60days after blood transfusion

10 –Feeding – parenteral feeding –Blood transfusion –Gestational age –Drugs Factors with influence on metabolite levels

11 Beküldő intézet (pecsét): Orvos (pecsétszám): Gyermek családi neve: ❏ ♂ ❏ ♀ Születési súly: Utóneve: └┴┴┴┘g Terhességi hét:└┴┘ Születési dátum: 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 51Fax: (06 62) 54 53 29 Correctly complete all the information on the card

12 Name: Birth date: Metabolic Laboratory, Dept. Pediatrics, Univ Szeged

13

14 Repeated testing –Gestational age < 32 weeks –Blood collection < 48 h after birth –Food intake < 60 ml –Blood tansfusion/parenteral feeding

15 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 Site of puncture

16 Safe

17 Clean site with alcohol Allow to air dry for 30 seconds Puncture to a depth less than 2 mm using a sterile lancet

18 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

19 Lightly touch the filter paper to the large drop of blood

20 Avoid touching the spots

21 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

22 Fill remaining circles in the same manner with successive drops of blood If blood flow is diminished repeated puncturing may be necessary

23 Inspect card to ensure you have collected enough blood, and the specimen is valid Valid Specimen

24 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

25 Do not store, transport cards every day

26 Valid and invalid DBS

27 Invalid DBS

28 Assay

29 QC CDC: amino acids (Phe, Tyr), galactose, TSH 17OH-progesterone Interlaboratory Quality Assurance for Newborn Screening (Geesthacht, Germany): Phe, galactose ERNDIM:

30 Evaluation of data

31 Cut-off levels Sahai I, Marsden D: Crit Rev Clin Lab Sci 46(2):55-82,2009 Analyte concentration Mean (Normal) Mean (Affected) Cut-Off Affected Normal Population Mean (Normal) Normal Population Affected Fals Positives Fals Negatives True positives Number of neonates True Negatives

32 Screening test performance Sensitivity Specificity False negative rate False positive rate Positive predictive value Negative predictive value

33 Problems Incorrect blood sampling Repeated sample - parents not found

34 Screening assay Does not exclude all metabolic disorders Keep in mind

35 Second-tier tests Beutler-test BH4-assay T3, T4 Steroid profile

36 Mutation analysis Diagnosis Prognostic value Prenatal diagnosis

37 Protocols Analytical side- Clinical side screening therapy follow up

38 Anyagcsere betegségek újszülöttkori szűrése Szülői tájékoztató

39 Thanks for your attention!