idcfa - who.int · definitions cleft palate (749.0) q35 a visible congenital malformation...

IDCFAIDCFAInternationaInternational l DatabaseDatabase of of CraniofacialCraniofacial AnomaliesAnomalies

A world-wide initiative supported by WHO – Human Genetics Programme

NIDCR – National Institute of Dental and Craniofacial Research

Coordinating Centre :ICBD – International Centre on Birth Defects

Headquarter of the International Clearinghouse for Birth Defects Monitoring SystemCoordinators :

Pierpaolo Mastroiacovo and Elisabeth Robert Gnansia

Advisor : Eduardo E Castilla IICCBBDD

www.icbd.org

The aim of the IDCFA

World-widedatabases

in thesamebasket

IICCBBDDwww.icbd.org

Classical descriptive epidemiology

Risk factors

Quality of life

Quality of health care services

Other cranio-facial

defects and / or

syndromes

General philosophy

Syndromes with

oral clefts

TypicalOral

Clefts

Long terms aims of the IDCFA

• To evaluate :– the incidence and prevalence of the various CFA in

some populations around the world– the main risk factors– the main characteristics (e.g.: clinical, genetic, psyco-

social) of persons with a CFA– the needs of persons with a CFA and of their families in

the various populations– the answers of the health care services and social

organizations to the patients’ and their families’ needs in the various countries

Long terms aims of the IDCFA

• Health care services• Quality of life

• Prevention and risk factors• Clinical and genetic studies• Incidence and prevalence

Areas who needs major attention, efforts and impulses

Person’s needs

Main Sources of IDCFA

Surgical Departments

Clinical Genetic Services

ECLAMC

USNBDPN

Eurocat ICBDMS

Birth Defects Registries

Special Projects

Support Associations

Each database provides specific information, it is based on :

and is

Periodically updated

Established

case by

caseinformation

Some organizational aspects of IDCFA

• Each database will be anonymous at the central level– Key code available only to the local organizations

• All databases will be located within the WHO – Human Genetics Programme

• Aggregated data will be available on tables, figures and maps through the web site

• The access to case by case data of any database will be possible for any researcher according to specific rules developed by the IDCFA Steering Committee IICCBBDD

www.icbd.org

Typical Oral Cleft PerinatalDatabase

Source :Birth Defects Registries

The first step

SimpleDescriptive

Epidemiology

DefinitionsCleft palate (749.0) Q35

A visible congenital malformation characterized by a closure defect of the hard palate and/or soft palate behind the foramen incisivum without cleft lip.

Exclude : submucous cleft palate, occult cleft palate, cleft uvula. In some database cleft palate includes Pierre Robin Sequence

Cleft palate, ambition !

Cleft palate

wide U shaped

narrow V shaped

wide U shaped

narrow V shaped

Pierre Robin Sequence

Working definitionPierre Robin Sequence(756.03) Q87.08A congenital malformation characterized by a closure defect of the palate behind the foramen incisivumwithout cleft lip associated to (a significant)micrognathia (small mandible) with or without a clinically relevant glossoptosis (retroposition of tongue) or respiratory distress. This is not a multiple malformations condition but a sequence. This means that may be isolated or associated to unrelated defects or part of a known syndrome.In some database this condition has a distinct code and it is differentiated from usual cleft palates

The critical point is “a significant” small mandible IICCBBDDwww.icbd.org

DefinitionsCleft lip (749.1) Q36A congenital malformation characterized by partial or complete clefting of the upper lip. Exclude : median cleft lip part of Holoprosencephaly Sequence; rare and oblique facial clefts

DefinitionsCleft lip and palate (749.2) Q37

A congenital malformation characterized by partial or complete clefting of the upper lip with clefting of the alveolar ridge and/or the hard palate. Exclude : any oral cleft part of the Holoprosencephaly Sequence; rare and oblique facial clefts

DefinitionsIsolated casesAny case with only one major defect registered. In this Database with only a oro-facial cleft.

Cases with associated defects, multimalformed infantAny case with a major defect registered other than the orofacial cleft.

SyndromesAny case with appropriate field filled by a name of recognized pattern of multiple malformations

An algorithm is applied and a review is performed centrally, to define more uniformelycases with major associated malformations, the so called : multi-malformed infants (MMI).See Guidelines for MMI used at ICBD since 2001

Typical Oral Cleft Perinatal Database

Information for each case

• All information available in a participating register

OR• Suggested set of data

OR• Minimum dataset

Suggested and minimum information dataset

• Subject code (§)

• Date of birth (at least month and year) • Place of birth, Area of residence codes (§)

• Sex, BW, GA, singleton/twin• Maternal age, gravidity and parity• Family history of birth defects• Living status at registration• Diagnosis

• ICD IX or ICD X Code– Verbatim description – Photographs, Rx, drawings, clinical evaluation, diagnosis of syndrome if appropriate

(when and where)

(§) All codes are hidden centrally, key available only locally

In yellow the minimum data set

How data arrives at ICBD

Any format, in Excel, is accepted. Just code’s keys needed

What ICBD does before sending “final” data to WHO

• General check of all data• Create the appropriate variables needed (e.g.: date

of birth by yy/mm/dd; specific field for OFC; country code; gravidity)

• Code the final diagnosis :– Isolated – Multimalformed infants, coded by number of associated

unrelated malformations– Cases with syndromes, coded with OMIM

• Request of information when needed• Interact with local registries

Request informationWhen ?

• Median cleft lip (holoprosencephaly ? Syndrome ?)

• Bilateral cleft lip (only lip ?!)• Cleft lip / palate in :

– chromosomal syndromes (holoprosencephaly ?)– so called “amniotic band syndrome”

• Pierre Robin with cleft lip • Any syndrome :

– with a too generic name (eg.: first arch syndrome)– without a commonly available lab confirmation : please

what is the evidence ?

Interaction with source database

• Sending back the final database and asking comments and agreement

• Asking comments to the ongoing results

From May 1st, 2004

Typical Oral Cleft Database

Recent dataRecent data

2001 – 2002 – (2003)

Participating registries – areas

November 7, 2003

Europe – EU15 Europe – Others 8 Reg

Other Countries

South America

9 Areas

17 Reg52

1,300,000 births per year are expected

Probably more, since some registries have expressed the desire to participate

Case by case information available

16Smoking, alcohol

11Prenatal diagnosis, CVS

Not always perfect (trimester; specific type)

19Drugs in pregnancy

9Maternal education

Not aways spec before / during18Maternal occupation

19Gravidity (ToP+Sab+SB+LV)

21Parity (SB + LB)24Maternal age

… but 3, do not report GA41Full minimum data set

Problems# of RegInformation

10Blood’s group Proband+Mother+Father

1 !Verbatim, full description

…. but, 2 report only sibsOften not specified

25Nuclear family malformations

18Consanguineity

9Father education

18Father occupation

21Father age

Problems# of RegInformation

Case by case information available

Routine tables or maps

Gran Total

Reg Grouped x 4 (or more)

Registers (41)

TotalCPPRCPCL/PCLPCLVariable X (e.g. sex ratio)

Year(s)

Sex ratio

BWMedian

GAMedian

MotherAge

Median

Parity

Gravi-dity

Isolated

Multimalf

Rates; Rate Ratios; Range of Values; Heterogeneity Test, Confidence Intervals

Spec Synd

Others, on request :

Number of Typical Oral Clefts

# of Reg.

1 263 980325 358207 423329 908401 586

Total Births

2001-2002

2001 (1)

Period sent

505Europe Others

2 272Total

367South America649Other Countries

681Europe 15

# of Cases

Registries Set

(1) France Paris only 2002-1; Germany Saxony Anhalt also 2002 2003-1

Total cases

Male sex proportion

Cleft lip +/ – palate Cleft palate

“Not yet” heterogeneity for • cleft lip vs cleft lip palate• isolated vs MMI• among registries or group of them

Total cases

M:F = 1.56

M:F = 0.75

11.815.712.39.79.4

Total CL +/- P

Pierre

4.94.35.45.64.6

Tot CP

16.720.017.715.3 14.0

Total Oral

Clefts

6.4Europe Others

8Total

9.4South America10.6Other Countries

6.1Europe 15

CLPGroup of Registries

Rates of Oral Clefts by Group of Registries

Total cases

Rates per 10 000 births* Not yet reviewed centrally

Variations in oral clefts rates seems to be due mainly to CLP rates variations

Cleft lip

Cleft palate

EU 15 EU Others SAM Others

Cleft lip and palate

OralClefts

Total cases

Highest and lowest rates

16 Reg

Northern Europe = 17.3

Southern Europe = 8.7

26.4 (n=14)

13.4(n=67)

5.6 (n=10)

6.6 (n=17)

Total cases

8 Reg18.7(n=170)

11.1(n=25)

Total cases

South America

9 Areas

14.7 (17)

27.6 (19)

Equador

Uruguay

Total cases

Other Countries

24.0(468)

8.3(n=18)

Total cases

16.71.32.214.983.7Total4.35.55.74.6

Tot CP

2.23.21.91.9

0.81.91.71.4

Ratio CL : CLP : CP

5.12.93.33.3

20.017.715.3 14.0

Total Oral

Clefts

6.3Europe Others

Published

9.4South America11.0Other Countries

6.1Europe 15

CLPGroupedRegistries

Rate Ratios of Oral Clefts by Group of Registries

Total cases

0.0 5.0 10.0 15.0 20.0 25.0 30.0

Rate per 10.000 of Cleft lip +/– palate

pHigher rates of CL+/– P are associated to higher CLP : CL

ratios = more severe types of primary palate defects

South Africa

Mexico

r =0.35; p=0.036

Proportion of specific types

Only registries with less than 20% of unknown

CasesReg%CasesReg%CasesReg%

CLP bilateral

C P hard

17Europe Others17Other Countries

11Europe 15

CL bilateralRegistries Set

South America not yet coded

Total cases

Proportion of specific types

Only registries with less than 20% of unknown

CasesReg%CasesReg%CasesReg%

CLP bilateral

C P hard

17Europe Others17Other Countries

11Europe 15

CL bilateralRegistries Set

Legittima suspicione

Total cases

Proportion (%) of isolated cases

84.479.781.379.587.185.290.8Europe Others72.072.666.774.171.767.280.2Europe 15

Tot CL +/- P

Pierre

Tot CP

Total OralClefts

71.5Other Countries

CLPRegistries Set

Other european countrieshas lower ascertainment of

associated defects ?

Legittima suspicione

Small for gestational ageWeight < 10° centile for gestational age from Canadian data (1994-96).

Pediatrics 2001 108:2 www.pediatrics

% (n)% (n)% (n)% (n)

25.0 (5)11.1 (55)20.0 (125)28.6 (56)S America (1)50.0 (5)25.6 (68)27.6 (234)21.2 (125)Others

28.6 (7)23.2 (69)26.2 (84)12.2 (41)Eu-Others

5.6 (18)11.7 (77)14.3 (112)10.3 (68)Europe 15

PRCPCLPCL

Total cases

Suggestion : compare between columns, not between rows

Registered syndromes

1 : 193.0006Amniotic bandQ899A

1 : 64.00038Trisomy 18Q91.0-3

1 : 386.0003E E C129900

1 : 290.0004 Hemifacial Microsomia164210

1 : 290.0004VATERQ899V

1 : 231.0005Van der Woude119300

1: 231.00054p –Q93.3

1 : 165.0007Trisomy 21Q90.0-9

1 : 20.00058Trisomy 13Q91.4-7

Prevalence of……. with oral clefts

NumberNameCode

Registered syndromes

1 : 193.0006Amniotic bandQ899A

1 : 64.00038Trisomy 18Q91.0-3

1 : 386.0003E E C129900

1 : 290.0004 Hemifacial Microsomia164210

1 : 290.0004VATERQ899V

1 : 231.0005Van der Woude119300

1: 231.00054p –Q93.3

1 : 165.0007Trisomy 21Q90.0-9

1 : 20.00058Trisomy 13Q91.4-7

Prevalence of……. with oral

clefts

NumberNameCode

1 : 33.000

Exp 35 cases

Registries’s coordinator and local doctors should be ready to collaborate to improve the

quality of data

Quality of data may be improved

A specificsyndromedatabase

Source :Support Organization

The second step

Case Finding

and Simple Epi

Craniofacial AnomaliesDatabase

Source :Surgical Dpts

The third step

Case Finding

and Simple Epi

Requested information

• Date of form compilation• Participating Hospital–Doctor• New/old patient – new/old follow

up• Patient’s identity code • Date of birth (mm/yy)• Place of birth (Nation, region)• Residence (Nation, region)• Sex

• Date of diagnosis (mm/yy)

• Place of diagnosis• Evidence of diagnosis• Full and detailed

description • Copy of relevant medical record

• Consultation diary• Informed consent and

agreement to be furtherly contacted

Requested Information

• Selected clinical data– Month and year of

• CFA – Discovery (6) – Diagnosis confirmed

• Syndrome– Suspected– Diagnosis confirmed

• Selected data on surgical treatment of CFA– Surgery procedure(s) : yes/not

• Place (specify hospital name and city)• Type of surgery • Month and year• Outcome

• Father and Mother– working activity at present (*)– years of school attended (*)– affected or operated upon of any congenital anomaly (if

yes specify)

• Siblings – Total number of sibs (include aborted fetuses after

prenatal diagnosis of any congenital anomaly; specify sex and birthweight)

– Affected sibs by any congenital anomaly (if yes specify)

Requested Information

(*) The common best indicator of socio-economic status IICCBBDDwww.icbd.org

The fourth step

World-widedatabases

in thesamebasket

MADREMADRE

All cases with CL/Pplus random controls

MMIMMIAll cases with CL/P

idcfa - who.int · definitions cleft palate (749.0) q35 a visible congenital malformation...

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