4.1 Initial List of Congenital Anomalies to Consider for Monitoring

Surveillance programmes can be developed to capture a variety of conditions. Although some countries may have more developed programmes than others, for the purpose of this manual, the following are suggested as an initial list of 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 of them, the potential for primary prevention. Further, programmes interested in more detailed information on the inclusion of 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 (14).

Congenital malformations of the nervous system
  • Anencephaly
  • Craniorachischisis
  • Iniencephaly
  • Encephalocele
  • Spina bifida
Cleft lip and cleft palate
  • Cleft palate alone
  • Cleft lip alone
  • Cleft palate with cleft lip
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

As participating facilities or hospitals and surveillance programme personnel gain experience during the development process, additional congenital anomalies 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: “Congenital malformations, deformations and chromosomal anomalies (Q00–Q99)” of the ICD-10 (12). 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.

It is important that decisions on which defects to include are 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). When coding the congenital anomalies, it is important to be as specific as possible and avoid using codes that are nonspecific or too general. Please refer to Chapter 5 for more information about coding.