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Birth Defects Surveillance Toolkit
Congenital Infectious Syndrome
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Congenital Rubella Syndrome
Congenital Syphilis
Congenital Cytomegalovirus
Congenital Zika Syndrome
Last Reviewed:
January 22, 2021
Source:
Division of Birth Defects and Developmental Disabilities
,
NCBDDD
,
Centers for Disease Control and Prevention
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Home
Manual
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Objectives
1. Surveillance of Congenital Anomalies
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1.1 Introduction
1.2 Purpose of congenital anomalies surveillance
1.3 Types of surveillance programmes
1.4 Congenital anomalies – definitions
2. Planning Activities and Tools
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2.1 Logic models
2.2 Partners and funding
2.3 Legislation
2.4 Privacy and confidentiality issues
2.5 Data dissemination
2.6 Communicating with parents
3. Approaches to Surveillance
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3.1 Population coverage
3.2 Case ascertainment
3.3 Case finding
3.4 Case inclusion
3.5 Description formats for congenital anomalies
3.6 Age of inclusion
3.7 Inclusion of pregnancy outcomes
3.8 Coding system
3.9 Potential inclusion/exclusion criteria
3.10 Core ascertainment variables
3.11 Data-collection methods and tools
3.12 Data management and protocols
3.13 Data collection and management
4. Diagnosing and Coding Congenital Anomalies
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4.1 Lists of selected external and internal congenital anomalies to consider for monitoring
4.2 Congenital Malformations of the Nervous System: Neural tube defects
4.2a Anencephaly
4.2b Craniorachischisis
4.2c Iniencephaly
4.2d Encephalocele
4.2e Spina Bifida
4.3 Congenital anomalies of the nervous system: Microcephaly
4.4 Congenital Malformations of the Ear
4.5a Overview Congenital heart defects: Prenatal diagnosis and postnatal confirmation
4.5b Common Truncus
4.5c Transposition of Great Arteries
4.5d Tetralogy of Fallot
4.5e Pulmonary Valve Atresia
4.5f Tricuspid Valve Atresia
4.5g Hypoplastic Left Heart Syndrome
4.5h Interrupted Aortic Arch
4.6 Orofacial Clefts
4.7 Congenital malformations of the digestive system
4.8 Congenital Malformations of Genital Organs
4.9a Congenital malformations and deformations of the musculoskeletal system: Talipes Equinovarus
4.9b Congenital malformations and deformations of the musculoskeletal system: Limb reduction defects/limb deficiencies
4.9c Limb Deficiency Amelia
4.9d Limb Deficiency: Transverse Intercalary
4.9e Limb Deficiency: Longitudinal Preaxial (Tibia, Radius, First Ray)
4.9f Limb Deficiency): Longitudinal Postaxial (Fibula, Ulna, Fifth Ray)
4.9g Limb Deficiency: Longitudinal Postaxial
4.9h Limb Deficiency: Longitudinal Axial Limb Deficiency – Split Hand and Foot
4.10 Abdominal Wall Defects
4.11 Chromosomal Abnormalities
5. Congenital Infectious Syndromes
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5.1 Congenital Rubella Syndrome (CRS)
5.2 Congenital Syphilis
5.3 Congenital Cytomegalovirus (cCMV)
5.4 Congenital Zika Syndrome (CZS)
6. Coding and Diagnosis
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6.1 Coding of Congenital Anomalies
6.2 International Classification of Diseases
6.3 Personnel Responsible for Diagnosing and Coding
6.4 Effect of the Certainty of Diagnosis on Coding
6.5 Coding Multiple Congenital Anomalies
6.6 Use of Codes for Surveillance, Data Analysis and Presentation
7. Primer on Data Quality in Birth Defects Surveillance
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7.1 Why data quality matters; A surveillance scenario
7.2 Data that are “fit for use”
7.3 SMART and SMARTER goals
7.4 General good data strategies and practices
7.5 Key Characteristics of Data Quality in Public Health Surveillance
7.6 Quality Data come from Quality Processes
7.7 Processes Must be Made Visible
7.8 Quality and “waste” in surveillance
7.9 Simple tools to improve data quality
Chapter 7 Concluding remark
Appendices
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Appendix A
Appendix B
Appendix C
Appendix D
Appendix E
Appendix F
Appendix G
Appendix H
Appendix I
Appendix J
Appendix K
Quick Reference Handbook
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Congenital Anomalies of the Nervous System
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Neural Tube Defects
Anencephaly
Craniorachischisis
Iniencephaly
Encephalocele
Spina Bifida
Congenital Anomalies of the Nervous System: Microcephaly
Congenital Anomalies of the Ear: Microtia/Anotia
Congenital Heart Defects
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Common Truncus
Transposition of Great Arteries
Tetralogy of Fallot
Pulmonary Valve Atresia
Tricuspid Valve Atresia
Hypoplastic Left Heart Syndrome
Interrupted Aortic Arch
Orofacial Clefts
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Cleft Palate
Cleft Lip Only
Cleft Palate with Cleft Lip
Congenital Anomalies of the Digestive System
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Oesophageal Atresia/Tracheo-Oesophageal Fistula
Large Intestinal Atresia/Stenosis
Anorectal Atresia/Stenosis
Congenital Anomalies of Genital and Urinary Organs
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Hypospadias
Renal Agenesis/Hypoplasia
Congenital Anomalies and Deformations of the Musculoskeletal System: Talipes Equinovarus
Limb Reduction Defects/Limb Deficiencies
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Amelia
Transverse Terminal
Transverse Intercalary
Longitudinal Preaxial (Tibia, Radius, First Ray)
Longitudinal Axial Defects – Split Hand and Foot
Longitudinal Postaxial (Fibula, Ulna, Fifth Ray)
Abdominal Wall Defects
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Omphalocele
Gastroschisis
Chromosomal Abnormalities: Trisomy 21 (Down Syndrome)
Congenital Infectious Syndromes
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Congenital Rubella Syndrome
Congenital Syphilis
Congenital Cytomegalovirus
Congenital Zika Syndrome
Image Gallery
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Congenital anomalies of the nervous system
Congenital anomalies of the ear
Congenital heart defects
Orofacial clefts
Congenital anomalies of the digestive system
Congenital anomalies of the genital and urinary organs
Congenital anomalies and deformations of the musculoskeletal system
Abdominal wall defects
Congenital infectious syndromes
Facilitator’s Guide
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Birth Defects Surveillance Course Overview
Module 1: Introduction to Congenital Anomalies Surveillance
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1.1 Public Health and Surveillance of Congenital Anomalies
1.2 Congenital Anomalies
1.3 Surveillance
1.4 Evaluation Questions 1
Module 2: Introduction to Planning Activities and Tools
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2.1 Logic Models
2.2 Legislation
2.3 Privacy and Confidentiality Issues
2.4 Partnerships and Funding
2.5 Communicating with Parents
2.6 Evaluation Questions 2
Module 3: Introduction to Surveillance Approaches
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3.1 Epidemiology
3.2 Population Coverage
3.3 Case Ascertainment
3.4 Case-Finding
3.5 Case Inclusion
3.6 Inclusion Criteria
3.7 Inclusion of Pregnancy Outcomes
3.8 Description Formats for Congenital Anomalies
3.9 Core Ascertainment Variables
3.10 Data-Collection Methods and Tools
3.11 Data Collection/Management
3.12 Data-Management Protocol
3.13 Data Analysis
3.14 Data Dissemination
3.15 Evaluation Questions 3
Module 4: Introduction to Diagnosis of Selected Congenital Anomalies
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4.1 External Major Congenital Anomalies for Monitoring
4.2 Evaluation Questions 4
Module 5: Introduction to Coding
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5.1 International Classification of Diseases
5.2 Certainty of Diagnosis
5.3 Personnel Responsible for Diagnosis and Coding
5.4 Coding Multiple Congenital Anomalies
5.5 Coding of Congenital Anomalies
5.6 Evaluation Questions 5
Resource Library
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Manual (PDF)
Facilitator’s Guide (PDF)
Quick Reference Handbook (PDF)
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