IDCFA IDCFA Internationa Internationa l l Database Database of of Craniofacial Craniofacial Anomalies Anomalies 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 System Coordinators : Pierpaolo Mastroiacovo and Elisabeth Robert Gnansia Advisor : Eduardo E Castilla ICBD www.icbd.org
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IDCFA - WHO | World Health Organization · IDCFA International Database of Craniofacial Anomalies ... Cleft lip and palate (749.2) Q37 A congenital malformation characterized by partial
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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
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
IICCBBDDwww.icbd.org
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
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
MADRE
MMI
Special Projects
B
A
Support Associations
Each database provides specific information, it is based on :
and is
Periodically updated
Established
case by
caseinformation
or
IICCBBDDwww.icbd.org
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
IICCBBDDwww.icbd.org
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
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
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
IICCBBDDwww.icbd.org
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
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
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
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
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
IICCBBDDwww.icbd.org
Request informationWhen ?
• Median cleft lip (holoprosencephaly ? Syndrome ?)