The project involves the coding of medical record text information on congenital minor malformations primarily from the ‘liveborn baby’ section of 6000 ALSPAC delivery questionnaires, and subsequently to investigate for any correlations with antenatal factors and childhood health outcomes.

CACH Team: Peter Lunt & Jean Golding

Around 1 in 4 newborns has one or more minor congenital malformations (mCMs);  features which are not themselves life-threatening, nor alter overall body anatomy, and are sufficiently infrequent to appear ‘unusual’, although often common enough to be considered part of normal variation.  The mCMs could reflect genetic factors, antenatal exposures or other prenatal epigenetic influences; or might be a marker for, or direct/indirect influence on, childhood outcomes.   This project involves categorising and coding (using ‘Human-Phenotype-Ontology’ system) medical record text information on mCMs (and potential neonatal and antenatal confounders), primarily from the transcribed ‘liveborn baby’ section of 6000 ALSPAC delivery questionnaires;  and subsequent investigation for correlations with antenatal factors and childhood health outcomes recorded in ‘ALSPAC’ data.