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Birth Defects Surveillance Toolkit

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Select a category of birth defects to browse photos and illustrations.

Nervous System
Nervous system - cervical open spina bifida
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Ear
Ear
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Heart
Transposition of great arteries
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Orofacial Clefts
Orofacial Clefts
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Digestive System
Large Intestinal Atresia
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Genital and Urinary Organs
Genital and Urinary Organs
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Musculoskeletal System
Graphic of a baby's hand showing aphalangia
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Abdominal Wall
Abdominal wall defects
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Infectious Syndromes
cataracts
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Last Reviewed: March 21, 2024
Source: Division of Birth Defects and Developmental Disabilities, NCBDDD, Centers for Disease Control and Prevention
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  • Manualplus icon
    • Objectives
    • 1. Surveillance of Congenital Anomaliesplus icon
      • 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 Toolsplus icon
      • 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 Surveillanceplus icon
      • 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 Anomaliesplus icon
      • 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 Syndromesplus icon
      • 5.1 Congenital Rubella Syndrome (CRS)
      • 5.2 Congenital Syphilis
      • 5.3 Congenital Cytomegalovirus (cCMV)
      • 5.4 Congenital Zika Syndrome (CZS)
    • 6. Coding and Diagnosisplus icon
      • 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 Surveillanceplus icon
      • 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
    • Appendicesplus icon
      • Appendix A
      • Appendix B
      • Appendix C
      • Appendix D
      • Appendix E
      • Appendix F
      • Appendix G
      • Appendix H
      • Appendix I
      • Appendix J
      • Appendix K
  • Quick Reference Handbookplus icon
    • Congenital Anomalies of the Nervous Systemplus icon
      • 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 Defectsplus icon
      • Common Truncus
      • Transposition of Great Arteries
      • Tetralogy of Fallot
      • Pulmonary Valve Atresia
      • Tricuspid Valve Atresia
      • Hypoplastic Left Heart Syndrome
      • Interrupted Aortic Arch
    • Orofacial Cleftsplus icon
      • Cleft Palate
      • Cleft Lip Only
      • Cleft Palate with Cleft Lip
    • Congenital Anomalies of the Digestive Systemplus icon
      • Oesophageal Atresia/Tracheo-Oesophageal Fistula
      • Large Intestinal Atresia/Stenosis
      • Anorectal Atresia/Stenosis
    • Congenital Anomalies of Genital and Urinary Organsplus icon
      • Hypospadias
      • Renal Agenesis/Hypoplasia
    • Congenital Anomalies and Deformations of the Musculoskeletal System: Talipes Equinovarus
    • Limb Reduction Defects/Limb Deficienciesplus icon
      • 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 Defectsplus icon
      • Omphalocele
      • Gastroschisis
    • Chromosomal Abnormalities: Trisomy 21 (Down Syndrome)
    • Congenital Infectious Syndromesplus icon
      • Congenital Rubella Syndrome
      • Congenital Syphilis
      • Congenital Cytomegalovirus
      • Congenital Zika Syndrome
  • Image Galleryplus icon
    • 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 Guideplus icon
    • Birth Defects Surveillance Course Overview
    • Module 1: Introduction to Congenital Anomalies Surveillanceplus icon
      • 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 Toolsplus icon
      • 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 Approachesplus icon
      • 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 Anomaliesplus icon
      • 4.1 External Major Congenital Anomalies for Monitoring
      • 4.2 Evaluation Questions 4
    • Module 5: Introduction to Codingplus icon
      • 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 Libraryplus icon
    • Manual (PDF)
    • Facilitator’s Guide (PDF)
    • Quick Reference Handbook (PDF)
    • Downloads
    • References
    • Glossary
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