4.1 Lists of selected external and internal congenital anomalies to consider for monitoring

PAGE 2 of 31

View Table of Contents

For surveillance programmes just starting out, the following are suggested as an initial list of external congenital anomalies to consider for monitoring. They were chosen because they are relatively easy to identify at birth, have significant public health impact, and, for some congenital anomalies, there is the potential for primary prevention.

Congenital malformations of the nervous system
  • Anencephaly
  • Craniorachischisis
  • Iniencephaly
  • Encephalocele
  • Spina bifida
  • Microcephaly
Cleft lip and cleft palate
  • Cleft palate alone
  • Cleft lip alone
  • Cleft palate with cleft lip
Congenital malformations of the eye, ear, face and neck
  • Microtia/Anotia
Congenital malformations of genital organs
  • Hypospadias
Congenital malformations and deformations of the musculoskeletal system
  • Talipes equinovarus
  • Reduction defects of upper and lower limbs (longitudinal, transverse, and intercalary)
  • Exomphalos (omphalocele)
  • Gastroschisis

Some countries have more diagnostic resources or more developed programmes than others. For these countries, including selected internal congenital anomalies might be of interest. The following is a list of internal congenital anomalies that are commonly collected by most major congenital anomaly surveillance programmes. Considerations for selection of these anomalies included the public health significance and opportunities for prevention and intervention.

Congenital malformations of the circulatory system
  • Common truncus (truncus arteriosus)
  • Hypoplastic left heart syndrome
  • Interrupted aortic arch
  • Pulmonary valve atresia
  • Tetralogy of Fallot
  • Transposition of the great arteries
  • Tricuspid valve atresia and stenosis
Chromosomal abnormalities
  • Trisomy 21 (Down syndrome)
Congenital malformations of the urinary system
  • Renal agenesis/hypoplasia
Congenital malformations of the digestive system
  • Esophageal agenesis/hypoplasia
  • Large intestinal atresia/stenosis
  • Rectal atresia/stenosis

As participating facilities or hospitals and surveillance programme personnel gain experience during the development process, additional congenital anomalies such as the internal anomalies listed above (or others) can be added in a stepwise fashion, starting with those that are of special interest or concern to the country or region, and eventually could include all of the major congenital anomalies listed in Chapter XVII of the ICD-10: “Congenital malformations, deformations and chromosomal anomalies (Q00–Q99)”. However, high-quality data on a smaller number of congenital anomalies will be more useful for public health than poor-quality data on all congenital anomalies.

The list of congenital anomalies included in this manual is not exhaustive. Programmes interested in more detailed information on the inclusion of additional defects or in prenatal diagnosis in congenital anomalies surveillance programmes can find some useful and practical suggestions and tips in the guidelines developed by the NBDPN in the USA.

The decision on selecting which defects to include in a surveillance programme should be evaluated based on available resources. If the fetus or neonate has at least one eligible congenital anomaly, this and any other observable major and minor congenital anomalies are described in detail and included on the abstraction form (see Appendix G [233 KB, 2 Pages]).

When coding the congenital anomalies, it is important to be as specific as possible and to avoid using codes that are nonspecific or too general. Please refer to Chapter 6 for more information about coding.

Table of Contents

  1. Chapter 4: Diagnosing and Coding Congenital Anomalies
  2. 4.1 List of Selected External and Internal Congenital Anomalies to Consider for Monitoring
  3. 4.2 Congenital Malformations of the Nervous System: Neural Tube Defects
  4. 4.2a Anencephaly
  5. 4.2b Craniorachischisis (Q00.1)
  6. 4.2c Iniencephaly (Q00.2)
  7. 4.2d Encephalocele (Q01.0–Q01.83, Q01.9)
  8. 4.2e Spina Bifida (Q05.0–Q05.9)
  9. 4.3 Congenital Anomalies of the Nervous System: Microcephaly
  10. 4.4 Congenital Malformations of the Ear
  11. 4.5a Overview Congenital Heart D: Prenatal Diagnosis and Postnatal Confirmation
  12. 4.5b Common Truncus (Q20.0)
  13. 4.5c Transposition of Great Arteries (Q20.3)
  14. 4.5d Tetralogy of Fallot
  15. 4.5e Pulmonary Valve Atresia (Q22.0)
  16. 4.5f Tricuspid Valve Atresia (Q22.4)
  17. 4.5g Hypoplastic Left Heart Syndrome (Q23.4)
  18. 4.5h Interrupted Aortic Arch (q25.21, Preferred; Also Q25.2, Q25.4)
  19. 4.6 Orofacial Clefts
  20. 4.7 Congenital Malformations of the Digestive System
  21. 4.8 Congenital Malformations of Genital Organs Hypospadias (Q54.0–Q54.9)
  22. 4.9a Congenital Malformations and Deformations of the Musculoskeletal System: Talipes Equinovarus (Q66.0)
  23. 4.9b Congenital Malformations and Deformations of the Musculoskeletal System: Limb Reduction Defects/Limb Deficiencies
  24. 4.9c Limb Deficiency Amelia (Q71.0, Q72.0, Q73.0)
  25. 4.9d Limb Deficiency: Transverse Terminal (Q71.2, Q71.3, Q71.30, Q72.2, Q72.3, Q72.30)
  26. 4.9e Limb Deficiency: Transverse Intercalary (Q71.1, Q72.1, Q72.4)
  27. 4.9f Limb Deficiency: Longitudinal Preaxial (Tibia, Radius, First Ray) (Q71.31, Q71.4, Q72.31, Q72.5)
  28. 4.9g Limb Deficiency: Longitudinal Postaxial (Fibula, Ulna, Fifth Ray) (Q71.30, Q71.5, Q72.30, Q72.6)
  29. 4.9h Limb Deficiency: Longitudinal Axial Limb Deficiency – Split Hand and Foot (Q71.6, Q72.7)
  30. 4.10 Abdominal Wall Defects
  31. 4.11 Chromosomal Abnormalities