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Structural or functional anomalies that occur during gestation and so are present from birth. They may be identified prenatally, at birth or during infancy.

Use in clinical context

The cause of congenital anomalies may not always be apparent. Possible causes include genetic, infectious and environmental causes (including nutrition).

Many patients with congenital anomalies undergo multiple tests with the aim of obtaining a diagnosis. Where it is suspected that the cause may be genetic, testing reflects this. Whole genome and whole exome sequencing have now been introduced into the NHS and can be appropriate to investigate the cause of some congenital anomalies.

Last updated on 16th November, 2021