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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
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The aim of the IDCFA
World-widedatabases
in thesamebasket
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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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
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Main Sources of IDCFA
Surgical Departments
Clinical Genetic Services
ECLAMC
USNBDPN
Eurocat ICBDMS
Birth Defects Registries
MADRE
MMI
Special Projects
B
A
Support Associations
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Each database provides specific information, it is based on :
and is
Periodically updated
Established
case by
caseinformation
or
IICCBBDDwww.icbd.org
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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
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Typical Oral Cleft PerinatalDatabase
Source :Birth Defects Registries
The first step
SimpleDescriptive
Epidemiology
IICCBBDDwww.icbd.org
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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
Tot
al, h
ard+
soft
Sof
t pal
ate
only
IICCBBDDwww.icbd.org
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Cleft palate, ambition !
Cleft palate
Hard
Soft
wide U shaped
narrow V shaped
wide U shaped
narrow V shaped
Pierre Robin Sequence
IICCBBDDwww.icbd.org
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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
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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
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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Typical Oral Cleft Perinatal Database
Information for each case
• All information available in a participating register
OR• Suggested set of data
OR• Minimum dataset
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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How data arrives at ICBD
Any format, in Excel, is accepted. Just code’s keys needed
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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
IICCBBDDwww.icbd.org
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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 ?
IICCBBDDwww.icbd.org
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Interaction with source database
• Sending back the final database and asking comments and agreement
• Asking comments to the ongoing results
From May 1st, 2004
IICCBBDDwww.icbd.org
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Typical Oral Cleft Database
Recent dataRecent data
2001 – 2002 – (2003)
IICCBBDDwww.icbd.org
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Participating registries – areas
November 7, 2003
41
IICCBBDDwww.icbd.org
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Europe – EU15 Europe – Others 8 Reg
Other Countries
7 Reg
South America
9 Areas
17 Reg52
0 00
0E
xp B
irth
s/Y
ear
250
000
Exp
Bir
ths/
Yea
r
330
000
Exp
Bir
ths/
Yea
r21
0 00
0E
xp B
irth
s/Y
ear
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1,300,000 births per year are expected
Probably more, since some registries have expressed the desire to participate
IICCBBDDwww.icbd.org
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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
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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
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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
Class
GAMedian
Class
SGA
Twins
ToP
MotherAge
Median
Class
Parity
Gravi-dity
Isolated
Multimalf
Total
Rates; Rate Ratios; Range of Values; Heterogeneity Test, Confidence Intervals
Spec Synd
Others, on request :
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Number of Typical Oral Clefts
41798
17
# of Reg.
1 263 980325 358207 423329 908401 586
Total Births
2001-2002
2001
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
IICCBBDDwww.icbd.org
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Male sex proportion
0.61
0.43
0.70
0.60
0.50
0.40
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
IICCBBDDwww.icbd.org
M:F = 1.56
M:F = 0.75
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11.815.712.39.79.4
Total CL +/- P
0.5
0.6
0.1 *
0.5
0.9
Pierre
Robin
4.94.35.45.64.6
Tot CP
4.4
3.7
5.4 *
5.1
3.7
CP
3.7
5.1
2.9
3.3
3.3
CL
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
IICCBBDDwww.icbd.org
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Variations in oral clefts rates seems to be due mainly to CLP rates variations
4.0
8.0
12.0
16.0
20.0
Cleft lip
Cleft palate
EU 15 EU Others SAM Others
Cleft lip and palate
OralClefts
IICCBBDDwww.icbd.org
Total cases
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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)
IICCBBDDwww.icbd.org
Total cases
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8 Reg18.7(n=170)
11.1(n=25)
Highest and lowest rates
IICCBBDDwww.icbd.org
Total cases
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South America
9 Areas
14.7 (17)
27.6 (19)
Equador
Chile
Highest and lowest rates
Uruguay
IICCBBDDwww.icbd.org
Total cases
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Other Countries
7 Reg
24.0(468)
8.3(n=18)
Highest and lowest rates
IICCBBDDwww.icbd.org
Total cases
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16.71.32.214.983.7Total4.35.55.74.6
Tot CP
2
2.23.21.91.9
1
0.81.91.71.4
1
1111
Ratio CL : CLP : CP
5.12.93.33.3
CL
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
IICCBBDDwww.icbd.org
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0.0
1.0
2.0
3.0
4.0
5.0
6.0
7.0
8.0
9.0
0.0 5.0 10.0 15.0 20.0 25.0 30.0
Rate per 10.000 of Cleft lip +/– palate
Rat
io C
left
Lip
+ P
alat
e :
Cle
ftLi
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
IICCBBDDwww.icbd.org
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Proportion of specific types
Only registries with less than 20% of unknown
CasesReg%CasesReg%CasesReg%
47
48
44
CLP bilateral
4
7
14
34
125
103
4
8
13
23
99
80
100
66
23
C P hard
4
149
39
1
6
8
17Europe Others17Other Countries
11Europe 15
CL bilateralRegistries Set
South America not yet coded
IICCBBDDwww.icbd.org
Total cases
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Proportion of specific types
Only registries with less than 20% of unknown
CasesReg%CasesReg%CasesReg%
47
48
44
CLP bilateral
4
7
14
34
125
103
4
8
13
23
99
80
100
66
23
C P hard
4
149
39
1
6
8
17Europe Others17Other Countries
11Europe 15
CL bilateralRegistries Set
South America not yet coded
Legittima suspicione
IICCBBDDwww.icbd.org
Total cases
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Proportion (%) of isolated cases
84.479.781.379.587.185.290.8Europe Others72.072.666.774.171.767.280.2Europe 15
73.2
Tot CL +/- P
50.0
Pierre
Robin
65.7
Tot CP
68.1
CP
77.0
CL
71.6
Total OralClefts
71.5Other Countries
CLPRegistries Set
IICCBBDDwww.icbd.org
Other european countrieshas lower ascertainment of
associated defects ?
Legittima suspicione
South America not yet coded
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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
IICCBBDDwww.icbd.org
Suggestion : compare between columns, not between rows
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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
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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Registries’s coordinator and local doctors should be ready to collaborate to improve the
quality of data
IICCBBDDwww.icbd.org
Quality of data may be improved
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A specificsyndromedatabase
Source :Support Organization
The second step
Case Finding
and Simple Epi
IICCBBDDwww.icbd.org
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Craniofacial AnomaliesDatabase
Source :Surgical Dpts
The third step
Case Finding
and Simple Epi
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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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
IICCBBDDwww.icbd.org
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• 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
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The fourth step
World-widedatabases
in thesamebasket
MADREMADRE
All cases with CL/Pplus random controls
(1:5)
MMIMMIAll cases with CL/P
IICCBBDDwww.icbd.org