6.Mihaela Nanu TSH Si PKU
Transcript of 6.Mihaela Nanu TSH Si PKU
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Institutul pentru Ocrotirea Mamei si Copilului “Alfred Rusescu”
Unitatea de Management a Programului National de Sanatate 5
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Screening neonatal pentru depistarea fenilcetonuriei si hipotiroidismului congenital,
dr. Michaela Nanu, dr. Despan Vasile, dr. Iorgulescu Daniela, dr Moldovanu Florentina Dr. Denisa Leu , biol.Haidautu Daniela ,biol. Lacatus Nicoleta
ec. Donici Florentina
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fenilcetonurie - hipotiroidie
Fenilcetonuria este o boala metabolica cu transmitere genetica recesiva , caracterizata printr-o tulburare in sinteza fenilalaninei
Hipotiroidia este o afectiune hormonala provocata de agenezia sau disgenezia glandei tiroide
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Complicatii
• Intarziere marcata in dezvoltarea psihointelectuala
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Profilaxie
Diagnosicul precoceTratamentul instituit in prima luna de viata
previn consecintele invalidate a copiilor afectati, permitand integrarea sociala a acestora si scutind familia si societatea de povara ingrijirii unei persoane cu un handicap psihic sever.
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Profilaxie
• SCREENINGUL NEONATAL
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Istorie Screening
• 1978 PILOT
• 1999 PROGRAM NATIONAL
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Activitati / Activities
• Instruirea personalului implicat in screening
• Recoltarea probelor de la nou-nascuti prin tehnica dry spot
•Training of staff
•Dry spot 3-5 days after birth
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Activitati/Activities
Transportul probelor la laboratorul de referinta
Dozarea TSH neonatal si a fenilalaninei
Transport of dry spot test to reference laboratories
neo TSH detection using Delfia technique and
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Activitati
• Comunicarea rezultatelor pozitive la Autoritatile de Sanatate Publica
• Contactarea familiei si indrumarea spre serviciul de confirmare a diagnosticului
•Information of local health authorithies about positive results
•Information of the family through the local health authorities
• Reference to the regional health unit for diagnosis confirmation
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Activitati/Activities
• Confirmarea diagnosticului prin dozarea T 4 si TSH din ser
T4 and TSH blood tests for confirmation
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Activitati
• Referinta spre un centru de specialitate pentru tratament si monitorizare
Reference to a specialised medical unit for treatment and monitoring
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Repartitia centrelor regionale de screening neonatal pentru depistarea fenilcetonuriei si hipotiroidismului congenital in anul 2009
Centrul regional Bucuresti din structura IOMC
Centrul regional Iasi
Centrul regional Cluj
Centrul regional Timisoara
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Repartitia centrelor regionale de screening neonatal pentru depistarea fenilcetonuriei si hipotiroidismului congenital in anul 2010
Centrul regional Bucuresti din structura IOMC
Centrul regional Iasi
Centrul regional Cluj
Centrul regional Timisoara
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Dinamica copiiilor testati pentru fenilcetonurie PKU
Nr.copii testatii PKU
51061
65329 68920
53462
7905071699 73641
86028
141000
0
20000
40000
60000
80000
100000
120000
140000
160000
Nr.beneficiari
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Dinamica copiilor testati pentru hipotiroidism congenital HTC
Nr.copii testati HTC
4377554071
6607153435
79092 70975 75372
96221
141000
0
2000040000
60000
80000
100000120000
140000
160000
Nr.beneficiari
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Dinamica copiiilor testatii pentru PKU pe centre regionale in perioada 2007 - 2009
Nr. Nou nascuti testati pentru fenilcetonurie
150231919121374
36440
5056 5227 3945 3555
4780550505
56043
0
10000
20000
30000
40000
50000
60000
2007 2008 2009 2007 2008 2009 2007 2008 2009 2007 2008 2009
cluj iasi timis IOMC
Nr. Nou nascutitestati pentrufenilcetonurie
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Dinamica copiiilor testatii pentru HTC pe centre regionale in perioada 2007 - 2009
Nr. Nou nascuti testati pentru hipotiroidism
1502319200 21431
36440
5056 5227 3945 3601
4780552227
66133
0
10000
20000
30000
40000
50000
60000
70000
2007 2008 2009 2007 2008 2009 2007 2008 2009 2007 2008 2009
cluj iasi timis IOMC
Nr. Nou nascutitestati pentruhipotiroidism
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Dinamica copiilor diagnosticati cu HTC
Nr. Copii diagnosticati HTC
67
12
8
6
10
13
0
2
4
6
8
10
12
14
2002 2003 2004 2005 2006 2007 2008 2009
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Dinamica copiilor diagnosticati cu PKU
Nr. Copii diagnosticati PKU
1922
97
5
27
2 2
0
5
10
15
20
25
30
2002 2003 2004 2005 2006 2007 2008 2009
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Dinamica testarii in centrul regional IOMC Bucuresti/ Screening trend in the regional center
Bucharest
An/year 2002 2003 2004 2005 2006 2007 2008
total 32704 44436 46007 47511 47785 48243 51631
Suspecti/suspects
178 128 45 75 68 30 13
Confirmati/confirmed
11 12 9 7 6 13 10
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Confirmarea diagnosticului in centrul regional Bucuresti
• 2008
3 - 8 saptamani • 2009
8-10 saptamani • 2010 • 3 -5 saptamani
Confirmation of the diagnosis –regional centre Bucharest•2008
3 weeks- 8 weeks of life ( 1 case 16 weeks •2009
8-10 week of life
2010
3-5 week of life
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Confirmarea diagnosticului 2002-2008/ Diagnosis confirmation
178
128
45
7568
301311 12 9 7 6 13 10
0
20
40
60
80
100
120
140
160
180
200
1 2 3 4 5 6 7
suspecti
confirmati
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Dinamica copiilor tratati PKU
Nr. Copii tratati PKU
24
33
4146
54
0
10
20
30
40
50
60
2005 2006 2007 2008 2009
Nr. Copii tratati PKU
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Dinamica copiilor tratati HTC
Nr. Copii tratati HTC
33
24 24
39
69
0
10
20
30
40
50
60
70
80
2005 2006 2007 2008 2009
Nr. Copii tratati HTC
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Management screening
• Training personal -responsabilitate centru regional
• Recoltare responsabilitate -maternitate
• Testare neonatala –resp. laborator de referinta
• Contactare pacienti- Centru de referinta-ASP
• Confirmare diagnostic. IOMC-Laboratoare desemnate
• Tratament-Centru desemnat ASP locale
• Monitorizare: resp. centru desemnat
• Centralizarea si raportarea datelor ASP/ IOMC
Location Department of Pediatrics:•Training of staff•Neonatal tests •Confirmation of diagnosis•Treatment•Monitoring•Report
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PROBLEME/PROBLEMS
SCREENINGUL NEONATAL NU SE FACE IN TOATA ROMANIA
NEONATAL SCREENING IS NOT AVAILABLE FOR ALL THE NEWBORNS
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Repartitia centrelor regionale in care se deruleaza programul de screening neonatal pentru depistarea fenilcetonuriei si hipotiroidismului congenital in anul 2010
Centrul regional Bucuresti din structura IOMC
Centrul regional Iasi
Centrul regional Cluj
Centrul regional Timisoara
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PROBLEME/PROBLEMS
INTARZIERI IN TESTARE
DELAY IN
PERFORMING NEONATAL TESTS
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Cauze /Causes
• Buget insuficient
• Fluctuatii in aprovizionarea cu chituri de diagnostic datorita intarzierilor licitatiilor si a contractarii.
• Fluctuatii in aprovizionarea cu chituri de diagnostic datorita discontinuitatii de finantare
•Low budget
•Delay of tender for provision of tests ,at regional level
•Delay in getting funds
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Probleme/ Problems Cauze /Cause
• Deficiente in tehnica de recoltare
• Deficiente in inregistrarea copiilor in momentul recoltarii
Registration deficiencies of tests at local level
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Probleme/ Problems Cauze /Cause
• Intarziere in recoltare la copiii cu greutate mica la nastere care necesita spitalizare prelungita in maternitate.
• Intarziere de transport a probelor de la centrele de screening locale
Delays in transport of tests from the local maternity to the regional center
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Probleme/ Problems Cauze /Cause
• Intarzieri in identificarea copiilor la nivel local.
• Intarzieri in prezentarea copiilor pentru confirmare
• informare scazuta a parintilor in maternitate despre screening
Delays in identification of the children
Delayed presentation of parents for confirmation
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Probleme/ Problems Cauze /Cause
• Migratia de personalului de laborator datorita grilei de salarizare scazute.
• raportare neadecvata si absenta unei baze de date
Deficit of trained staff
Reporting problems
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RECOMANDARI RECOMANDATION
• Extinderea screeningului la nivel national
• Creerea unor standarde a metodologiei de screening
• Repartitia bugetului in centrele regionale conformitate cu numarul de beneficiari
• Informatizarea raportarii ( raportare on line)
• Creerea unei retele de colaborare intre centrele regionale
•Extension of the screening•Development of standards in screening•A better distribution of the budget at regional level according the number of the target group•Development of a web based report system•Networking among regional centers
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RECOMANDARI/ RECOMANDATION
• Identificarea unor noi surse de finantare
• Introducerea cheltuielilor de capital pentru achzitionarea de echipament.
• Creerea unui sistem informatic de raportare
• Imbunatatirea managmentului screeningului de la recoltare la creerea bazei de date
•Identification of new funding sources
•Funding for equipment
•Improvement of management
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RECOMANDARI/RECOMANDATION
• Creerea registrelor nationale
• Cresterea vizibilitatii internationale
• Imbuntatirea colaborarii intre diferitii actori implicati in screening: decidenti de politici de sanatate , specialisti organizatii de parinti , organizatii nonguvernamentale, furnizor de materiale de laborator.
•Registry development•Networking at country level among different actors including provision of lab materials•Increasing international cooperation
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