UPDATING AND PLANNING UPDATING AND PLANNING ON-LINE NOTIFICATION OF ON-LINE NOTIFICATION OF

HUNGARIAN CONGENITAL ABNORMALITY HUNGARIAN CONGENITAL ABNORMALITY REGISTRY AND REGISTRY AND

SURVEILLANCE (HCARS)SURVEILLANCE (HCARS)

Judit Béres, János Sándor,Judit Béres, János Sándor,Júlia MétnekiJúlia Métneki

Department ofDepartment ofHungarian Congenital Abnormality Registry and SurveillanceHungarian Congenital Abnormality Registry and Surveillance

National Centre for Healthcare Audit and Inspection, BudapestNational Centre for Healthcare Audit and Inspection, Budapest

EUROCAT 24th REGISTRY LEADERS’ MEETING EUROCAT 24th REGISTRY LEADERS’ MEETING Bilbao, 11-12 June 2009 Bilbao, 11-12 June 2009

HISTORY OF HCARSHISTORY OF HCARS

1962 1962 – Start of reporting e– Start of reporting establishstablisheded in the Heim Pál Children in the Heim Pál Children Hospital Hospital

nationwide systemnationwide system

1970 1970 - - Official startOfficial start (regulated by law) (regulated by law)compulsory reportingcompulsory reporting

1974 - Monitoring of CAs 1974 - Monitoring of CAs temporal and geographical cluster analysistemporal and geographical cluster analysis

1980 – Start of CA ethiological monitoring1980 – Start of CA ethiological monitoring Hungarian Case-Control Surveillance of Hungarian Case-Control Surveillance of CAs (HCCSCA)CAs (HCCSCA)

REORGANISATIONS

National Institute of Public HealthNational Institute of Public Health (1970-1997) (1970-1997)

National Center for EpidemiologyNational Center for Epidemiology (1998-2006) (1998-2006)

Department of Human Genetics and TeratologyDepartment of Human Genetics and Teratology,,

Hungarian Hungarian Congenital Abnormality Registry Congenital Abnormality Registry and and Surveillance Surveillance ((HHCARCARSS))

National Centre for Healthcare Audit and InspectionNational Centre for Healthcare Audit and Inspection (2006-) (2006-)

Congenital Abnormality Registry (Congenital Abnormality Registry (HHCARCARSS))

INTERNATIONAL MEMBERSHIPSINTERNATIONAL MEMBERSHIPS

2003 –2003 – European Surveillance of Congenital European Surveillance of Congenital Anomalies (EUROCAT) Anomalies (EUROCAT) ((www.eurocat.ulster.ac.ukwww.eurocat.ulster.ac.uk))

1984-1998 – WHO Reference CenterWHO Collaborating Center for the Community Control of Hereditary Diseases

1974 -1974 - International Clearinghouse for Birth International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) Defects Surveillance and Research (ICBDSR) VRONY, founder full-legal member VRONY, founder full-legal member (www.icbdsr.org)(www.icbdsr.org)

HUNGARIAN HUNGARIAN CCONGENITALONGENITAL ABNORMALITY ABNORMALITY RREGISTRYEGISTRY ((HCAR)HCAR)

• Based on obligatory notification of congenital Based on obligatory notification of congenital abnormalities (CA) cases by medical doctorsabnormalities (CA) cases by medical doctors

• Continually collects, records and keeps the personal Continually collects, records and keeps the personal and health data of cases with CA from the birth and health data of cases with CA from the birth till till the age of one yearthe age of one year (including the prenatally (including the prenatally diagnosed and terminated malformed fetuses (from diagnosed and terminated malformed fetuses (from 1985 onwards)1985 onwards)

FUNCTIONSFUNCTIONS

• REGISTRATION REGISTRATION – – by types, personal data, by types, personal data, pregnancy outcome, pregnancy outcome, medical medical diagnosisdiagnosis

• MONITORINGMONITORING – – clearing up of clusters and clearing up of clusters and

environmental risk factors environmental risk factors

• SURVEILLANCESURVEILLANCE – – sstatistical tatistical evaluation of evaluation of changes, time-trend analysis (years)changes, time-trend analysis (years)

CHARACTERISTICS OF HCARCHARACTERISTICS OF HCAR

• All Q00-Q99 CAs are registeredAll Q00-Q99 CAs are registered

• Covers whole Hungarian population Covers whole Hungarian population 2006: 5770 affected cases 2006: 5770 affected cases (100.000 births/annually)(100.000 births/annually)

• Epidemiological study on multiple congenital anomaliesEpidemiological study on multiple congenital anomalies

isolated: single, complex, sequens, polytopic isolated: single, complex, sequens, polytopic field defectfield defect

multiple: syndrome, association, random multiple: syndrome, association, random combination)combination)

ANNUAL REPORTANNUAL REPORTEvaluations of CAs (tables, graphics, maps, etc.)Evaluations of CAs (tables, graphics, maps, etc.)

• Observed frequency of CAs according to each CA by ICD codesObserved frequency of CAs according to each CA by ICD codes• Pregnancy outcomes of cases with CA (live birth, stillbirth, miscarriage, therapeutic Pregnancy outcomes of cases with CA (live birth, stillbirth, miscarriage, therapeutic

abortion, infant mortality)abortion, infant mortality)• Sex distribution (ratio of male/female)Sex distribution (ratio of male/female)• Monthly distribution (seasonality) Monthly distribution (seasonality) • Territorial distribution by countiesTerritorial distribution by counties

Dissemination of Annual Reports Dissemination of Annual Reports

• Management of Ministry of Health Management of Ministry of Health • State Health Public Service in the capitol and the countiesState Health Public Service in the capitol and the counties• Directors of Clinics and HospitalsDirectors of Clinics and Hospitals• Head of relevant departments of Clinics and HospitalsHead of relevant departments of Clinics and Hospitals• Medical experts and general practitionersMedical experts and general practitioners

Summary of database is published on the web-site: Summary of database is published on the web-site: www.oszmk.huwww.oszmk.hu

PRESENTPRESENT SITUATIONSITUATION

• 2007 – Frequency of notified cases above 5% 2007 – Frequency of notified cases above 5% – – significant significant quantitativequantitative improvement improvement

• 2009 – Importance of qualitative changing 2009 – Importance of qualitative changing

Aims: Aims:

- harmonization of national and internation- harmonization of national and internationalal expectations expectations

- requirement to the „data quality minimum” - requirement to the „data quality minimum”

- increasing the completeness of reported data - increasing the completeness of reported data

- geographical homogeneity- geographical homogeneity

UPDATE OF HCARSUPDATE OF HCARS

ChangesChanges

Essential Essential FormalFormal

ModificationModification ElectronicalElectronical

of notification card of notification card notificationnotification

MODIFICATION ON NOTIFICATION CARDMODIFICATION ON NOTIFICATION CARD

More detailed information More detailed information - Prenatally diagnosed CAs (indication, method)- Prenatally diagnosed CAs (indication, method)

- Fertility intervention/treatment becaming pregnant - Fertility intervention/treatment becaming pregnant (under discussion) (under discussion) (suggestion of treatment,(suggestion of treatment, type of intervention, etc.)type of intervention, etc.)

RemarksRemarks- Criteria of diagnoses- Criteria of diagnoses

hernias hernias – only in operated cases– only in operated casescong. pylorus stenosis cong. pylorus stenosis – only in operated cases– only in operated casesundescended testicleundescended testicle – from 3. postnatal month – from 3. postnatal month

(in maturated newborn)(in maturated newborn)

Changes Changes - Revision (exclusion of genetic diseases and some minor anomalies Revision (exclusion of genetic diseases and some minor anomalies

notified previously) notified previously)

MMAIN CHANGES AIN CHANGES OF THE NOTIFICATION CARD OF THE NOTIFICATION CARD

Was the CA diagnosed prenatally? Was the CA diagnosed prenatally? YesYes No If yes: No If yes:

Indication of pIndication of prenatal diagnrenatal diagnosisosis ((window)window)• maternal agematernal age• biochemical (abnormal value of triple,biochemical (abnormal value of triple, quarter,quarter, in integtegrrateate test, AFP, test, AFP, other)other)• ultrasound featureultrasound feature• positive family history/pedigreepositive family history/pedigree

Method of prenatal sample Method of prenatal sample • ggenetieneticc amniocentesis amniocentesis• cchoriohorion villi samplen villi sample (CVS) (CVS)• cordocentesiscordocentesis• bbiopsiopsyy from fetus tissuesfrom fetus tissues• maternal serum maternal serum

Laboratory method and result Laboratory method and result • cytogenetical (kariotyping, chromosome-binding, FISH)cytogenetical (kariotyping, chromosome-binding, FISH)• DNA analysis (DNA sequences, other mutation analysis)DNA analysis (DNA sequences, other mutation analysis)• biochemichal parameterbiochemichal parameter• fetus histopathology fetus histopathology

INFORMATICAL CHANGESINFORMATICAL CHANGES

Reorganizing the networks:Reorganizing the networks:

- - stopping of stopping of paper based paper based reportingreporting

- - web based reporting web based reporting (questionnaire on the net)(questionnaire on the net)

- - building-in warning signalsbuilding-in warning signals (planned)(planned)

for software applied for software applied by by hospitals /GPs/hospitals /GPs/

outpatient outpatient clinicsclinics

GENERAL ADVANTAGESGENERAL ADVANTAGESOF ON-LINE NOTIFICATIONOF ON-LINE NOTIFICATION

• Simpler, cheaper, more rapid, no time-limit Simpler, cheaper, more rapid, no time-limit

• Application of protective and control system – Application of protective and control system – prevent the falsprevent the falsee data sending data sending

• Data-protection aspects Data-protection aspects

SPECIFIC ADVANTAGESSPECIFIC ADVANTAGESValid data (diagnosis given by medical doctor) – Valid data (diagnosis given by medical doctor) – ICD10ICD10 versionversion and diagnosis in and diagnosis in

wordword//legend appear together – legend appear together – (paper-based – (paper-based – ICD10ICD10 code was not always code was not always indicated)indicated)

Q37 Q37 Cleft palate with cleft lip Cleft palate with cleft lip

• Q37.0 Cleft hard palate with bilateral cleft lip Q37.0 Cleft hard palate with bilateral cleft lip • Q37.1 Cleft hard palate with unilateral cleft lip Q37.1 Cleft hard palate with unilateral cleft lip

Cleft hard palate with cleft lip NOS Cleft hard palate with cleft lip NOS Q37.2 Cleft soft palate with bilateral cleft lip Q37.2 Cleft soft palate with bilateral cleft lip

• Q37.3 Cleft soft palate with unilateral cleft lip Q37.3 Cleft soft palate with unilateral cleft lip Cleft soft palate with cleft lip NOS Cleft soft palate with cleft lip NOS

Q37.4 Cleft hard and soft palate with bilateral cleft lip Q37.4 Cleft hard and soft palate with bilateral cleft lip • Q37.5 Cleft hard and soft palate with unilateral cleft lip Q37.5 Cleft hard and soft palate with unilateral cleft lip

Cleft hard and soft palate with cleft lip NOS Cleft hard and soft palate with cleft lip NOS Q37.8 Unspecified cleft palate with bilateral cleft lip Q37.8 Unspecified cleft palate with bilateral cleft lip

• Q37.9 Unspecified cleft palate with unilateral cleft lip Q37.9 Unspecified cleft palate with unilateral cleft lip Cleft palate with cleft lip NOS Cleft palate with cleft lip NOS

Identified syndromes including CL and/or CP are coded by ICD10 Identified syndromes including CL and/or CP are coded by ICD10 Experts of HCARS try to identify multiple CAs including CL and/or CP Experts of HCARS try to identify multiple CAs including CL and/or CP

on the bases of component CAson the bases of component CAsUnidentified multiple CAs are coded as Q89.7 (given each component CAs)Unidentified multiple CAs are coded as Q89.7 (given each component CAs)

TIME-SCHEDULE OF ON-LINE HCARTIME-SCHEDULE OF ON-LINE HCAR

May 2009 May 2009 Preparation of e-HCARPreparation of e-HCARJune 2009 June 2009 InformaticaInformatical andl and technical preparation technical preparationJuly-September 2009July-September 2009 Sending information package for all Sending information package for all

potential notifpotential notifyingying medical doctors medical doctors1 Sept. – 15 Dec. 20091 Sept. – 15 Dec. 2009 Transient period (paper-based -Transient period (paper-based -

on-lineon-line method simultaneously used? method simultaneously used?

1. January 20101. January 2010 Starting of on-line notificationStarting of on-line notification(paper-based notification will be over(paper-based notification will be over))

Question need to ansQuestion need to answwer:er: Is the overlapping period can be permitted?Is the overlapping period can be permitted?Is it necessary to use ICD9 version besides of ICD10 version?Is it necessary to use ICD9 version besides of ICD10 version?SShould be hould be aall Q00-Q99 diagnoses registered?ll Q00-Q99 diagnoses registered?

TransientTransient period is difficult, first years are the most critical period is difficult, first years are the most critical

STARTING OF ON-LINE SYSTEM, STARTING OF ON-LINE SYSTEM,

DISSEMINATIONDISSEMINATION

PublicationsPublications Hungarian Medical Journals (general and specific periodicals)Hungarian Medical Journals (general and specific periodicals)

- Magyar Orvos- Magyar Orvos - Medical Tribune - Medical Tribune - Magyar Nőorvosok Lapja - Magyar Nőorvosok Lapja

- Nőgyógyászati és Szülészeti - Nőgyógyászati és Szülészeti Továbbképző Továbbképző

SzemleSzemle - Gyermekgyógyászat - Gyermekgyógyászat

Lectures/courses Lectures/courses - Hospitals, universities - Hospitals, universities - different medical forum- different medical forum

Web-sides: Web-sides: - Medical societies - Medical societies

NATIONAL RESEARCH I.NATIONAL RESEARCH I.

• EtEthhiological study of cardiovascular abnormalitiesiological study of cardiovascular abnormalities

ETT project of Ministry of Health (2006-2209) ETT project of Ministry of Health (2006-2209)

Cooperation with the Foundation for the Community Control of Cooperation with the Foundation for the Community Control of Hereditary Diseases Hereditary Diseases

• Relation between parental occupational risk and congenital Relation between parental occupational risk and congenital abnormalities in Hungaryabnormalities in Hungary

Study for the request of National Atomic Energy Office on the data-Study for the request of National Atomic Energy Office on the data-set of the Hungarian Case-Control Surveillance of Congenital set of the Hungarian Case-Control Surveillance of Congenital AbnormalitiesAbnormalities

• EtEthhiological study of iological study of maternal diseases. maternal diseases.

Cooperation with the Foundation for the Community Control of Cooperation with the Foundation for the Community Control of Hereditary Diseases (countinuous work)Hereditary Diseases (countinuous work)

NATIONAL RESEARCH II.NATIONAL RESEARCH II.

• Population-based monitoring of periconceptional folic acid use in Population-based monitoring of periconceptional folic acid use in order to explore the causes of unsufficient folic acid order to explore the causes of unsufficient folic acid supplementation and to work out efficient methods for improving of supplementation and to work out efficient methods for improving of periconceptional folic acid use periconceptional folic acid use Leader of project: Janos SandorLeader of project: Janos Sandor

• Search for new and known susceptibility genes associated with Search for new and known susceptibility genes associated with neuropsychiatric disorders (schizophrenia, affective disorders, neuropsychiatric disorders (schizophrenia, affective disorders, Alzheimer’s diseases and other dementias in roma and non-roma Alzheimer’s diseases and other dementias in roma and non-roma populations in Hungarypopulations in HungaryOTKA project No. K 60589 Cooperation(2006-2009) with OTKA project No. K 60589 Cooperation(2006-2009) with Department of Psychiatry, Medical University of Szeged. János Department of Psychiatry, Medical University of Szeged. János Kálmán, MD. Ph.D)Kálmán, MD. Ph.D)

• Trend of prenatal diagnosis and DS in Hungary, 1990-2007Trend of prenatal diagnosis and DS in Hungary, 1990-2007

INTERNATIONAL RESEARCHINTERNATIONAL RESEARCH

• International Clearinghouse (ICBDRS) – Very rare diseases project International Clearinghouse (ICBDRS) – Very rare diseases project (ethiological study of amelia/phocomelia, syrenomelia, conjoined (ethiological study of amelia/phocomelia, syrenomelia, conjoined twins, bladder extrophy, cloaca exstrophy, acardius-acephalus)twins, bladder extrophy, cloaca exstrophy, acardius-acephalus)

• Department of Epidemiology, Aarhus University (Aarhus, Denmark), Department of Epidemiology, Aarhus University (Aarhus, Denmark), (director: Henrik Toft Sorensen): Potentional teratogenic effect of (director: Henrik Toft Sorensen): Potentional teratogenic effect of maternal diseases, drugs, social status; ethiological study of maternal diseases, drugs, social status; ethiological study of gastroschosis gastroschosis

• Institute of Demography, University of Louvain, BELGIUM Institute of Demography, University of Louvain, BELGIUM (Catherine Gourbin, Vandresse Marie): Paternal age and CAs (Catherine Gourbin, Vandresse Marie): Paternal age and CAs The impact of late fertility on congenital abnormalitiesThe impact of late fertility on congenital abnormalities

• European Alliance of Neuromuscular Disorders Associations European Alliance of Neuromuscular Disorders Associations (EAMDA) – Frequent neuromuscular diseases in Gipsy population(EAMDA) – Frequent neuromuscular diseases in Gipsy population

DOWN SYNDROME (DS) DOWN SYNDROME (DS) IN HUNGARYIN HUNGARY

Number of total births: (2001-2007) 681,203

Known number of cases with DS: 1,169

Rate of DS*: 1.72‰*(denominator: livebirths + late fetal deaths)

RATE OF DS IN HUNGARYRATE OF DS IN HUNGARY1970-20071970-2007

0,6

0,8

1

1,2

1,4

1,6

1,8

1970 1975 1980 1985 1990 1995 2000 év

ezre

lék

Gyakoriság

REGISTERED RATE OF DSREGISTERED RATE OF DS1990-20071990-2007

1,7‰

*1,6‰

1

1,2

1,4

1,6

1,8

2

1990 1994 1998 2002 2006

aktív eset felkutatás előtt aktív esetfelkutatás utánLineáris (aktív eset felkutatás előtt) Lineáris (aktív esetfelkutatás után)

before active search

after active search

RATE OF CASES WITH DS RATE OF CASES WITH DS BY PREGNANCY OUTCOMEBY PREGNANCY OUTCOME

0

0,4

0,8

1,2

1,6

2

2001 2002 2003 2004 2005 2006 2007

Összes eset ToP < 16 hét ToP 16 hét után Élveszületések

total cases

live birth

TOP after 16. week

TOP before 16. week

TOP = termination of pregnancy

EUROPEAN RATE OF CASES WITH DSEUROPEAN RATE OF CASES WITH DS

0 1 2 3

Antwerpen (Belgium) Barcelona (Spain)

Dublin (Ireland) Galway (Ireland)

Hainaut (Belgium) Mainz (Germany)

Merseyside & Cheshire (UK) North East Italy

Odense (Denmark) Paris (France)

Saxony-Anhalt (Germany) Styria (Austria)

Vaud (Switzerland) Zagreb (Croatia)

prevalencia / 1000

Hungary: 1,6-1,7 ‰

Average of European countries: 1,92 ‰

CHANGING IN MATERNAL AGECHANGING IN MATERNAL AGE

28,4

33,133,1

49,4

21,213,8

8,412,7

5

15

25

35

45

55

1990-1994 1995-1999 2000-2004 2005-2006 2007

≤ 24 25-29 30-34 ≥35

significant demographic change in the maternal age

≤ 24: decreasing tendency (2007 - less than half of value in 1990-94)

≥ 30-35: increasing tendency (2007 – 2.5 higher than in 1990-94)

RATE OF PRENATALLY RATE OF PRENATALLY DIAGNOSED CASES WITH DSDIAGNOSED CASES WITH DS

0,55,9

20,4

30,936

39,8

52,2

0

10

20

30

40

50

60

1980-1984

1985-1989

1990-1994

1995-1999

2000-2002

2003-2004

2005-2006

EUROCAT2000-2004: 51,9 %

- increasing trend

- corresponds to EUROPEAN average

- significant institutional and territorial differences

e-HCAR CO-WORKERSe-HCAR CO-WORKERS

OSZMK HCAROSZMK HCAR Júlia Métneki PhD Júlia Métneki PhD human geneticist, supervisorhuman geneticist, supervisor János Sándor PhD János Sándor PhD medical-epidemiologistmedical-epidemiologist Andrea Valek Andrea Valek MDMD medical-epidemiologistmedical-epidemiologist ÉvaÉva Pálffy Pálffy assistassistaantnt Monika Monika Pataki Pataki assistassistaantnt Éva Fekécs Éva Fekécs health visitorhealth visitor Judit Béres PhD Judit Béres PhD human geneticisthuman geneticist

OSZMK Department of Informatic and AnalysisOSZMK Department of Informatic and AnalysisHangay István Hangay István DrDr head of department head of department

Professional assistanceProfessional assistance Béla Melegh Béla Melegh Prof. MDProf. MD President of the Hungarian President of the Hungarian

Society of Human GeneticsSociety of Human Genetics György Kosztolányi György Kosztolányi Prof. MDProf. MD Member of the HungarianMember of the Hungarian

Academy of SciencesAcademy of Sciences

USER-FRIEND HCARUSER-FRIEND HCAR

Suggestions, remarks Suggestions, remarks

e-mail: e-vrony@oszmk.antsz.hue-mail: e-vrony@oszmk.antsz.hu

beres.judit@oszmk.antsz.huberes.judit@oszmk.antsz.hu

www.oszmk.huwww.oszmk.hu

Thank you very much Thank you very much

for your collaboration!for your collaboration!