5.2 Certainty of Diagnosis

Expected time: 30 minutes

Difficulty with Diagnosis

The certainty of diagnosis could vary for live births versus stillbirths and for prenatal versus postnatal assessments.

With pregnancy terminations, the prenatal diagnosis may not be verified for many reasons, including the method of termination, the condition of the specimen, or lack of post-termination examination or autopsy.

Programmes interested in more detailed information on inclusion of prenatal diagnosis in congenital anomalies surveillance can find useful and practical suggestions and tips in the guidelines developed by the National Birth Defects Prevention Network in the USA. Guidelines are included under the resources section of your workbook.

Among neonates who die shortly after birth, the diagnosis could also cause difficulties if certain examinations such as X-rays or an autopsy are not done.

Coding Diagnoses Differently

It is beneficial to code possible diagnoses differently from confirmed diagnoses (for analytic purposes). This can be done by using a separate field on the congenital anomalies abstraction form to include this information. An extra digit can also be added to the ICD-10-RCPCH codes.

Possible responses:

  • Hydrocephalus suggested by prenatal ultrasound and no postnatal confirmation is done
  • Cleft lip prenatally diagnosed without postnatal confirmation
  • Clinical diagnosis of holoprosencephaly without imagining studies or postmortem examination