Table 12: Malformation details

The following CDE items should be completed for each fetus in the reported pregnancy.

Display only CDE items recommended as ESSENTIAL when studying: Pregnancy and infant outcomes Longer term childhood outcomes

CDE Item Definition Recommended data format and suggested values Essential to collect when studying pregnancy and infant outcomes Essential to collect when studying longer term childhood outcomes Source Purpose Notes
Congenital anomaly Presence of any structural/morphological, functional or biochemical anomaly(ies) in the fetus that occur during intrauterine life and can be identified prenatally, at birth or later in life Options: a). Yes, b) No, c) Unknown Yes Yes Directly reported Report statistics
Details of all congenital anomaly(ies) Details of the anomaly(ies) present in the exposed fetus Value 1 (diagnosis: free text in accordance with coded diagnostic term(s)): Text

Value 2 (MedDRA/ICD diagnosis code): Text

Value 3 (Coding system) - Options: a) MedDRA, b) ICD10, c) Other (detail) - Text

Value 4 (age at diagnosis): Text
Yes Yes Directly reported Report statistics

These fields will be empty where no anomalies are described. It is important to confirm the details through postnatal examination or investigation, or post-mortem.

Record details for each anomaly separately.
Infant malformation case classification Classification of status of a fetus / infant case with an anomaly(ies) based on a hierarchy of observed events Options: a) Genetic malformation case, b) Major malformation case (non-genetic), c) NOS malformation case (non-genetic), d) Minor malformation case (non-genetic). Yes Yes Reported

Derived (based on reported details and classification system)
Report statistics

It is strongly recommended that this element is completed by an expert committee.

Classifications should only be undertaken by experienced researchers/clinicians.

For statistics reporting purposes it is the fetus or infant that is categorized not each individual malformation.

Cases are categorised according to the following hierarchical logic:

1. Does the baby have any structural malformation events or birth defects (i.e., non-functional/biochemical anomalies)?

2: (if yes) Does the baby have any genetic/cytogentic malformation events?

2a: (if yes) classify case as genetic malformation case

2b: (if no) classify case per EUROCAT as: - Major malformation case

if the fetus has a malformation but there are insufficient details to allow the classification, then classify as: - NOS malformation case

if not major or NOS, then classify as: - Minor malformation case

Each congenital malformation event is judged by experienced adjudicators (qualified paediatrician, clinical geneticist, teratologist, paediatric neurologist, nephrologist, toxicologist, or clinical pharmacologist), according to the EUROCAT guidance.

In fetuses/infants with more than one malformation, the case categorisation is determined by the presence of any anomaly meeting the criteria of the highest-ranking category in the following hierarchy: Genetic malformation > Major malformation (non-genetic)> Unspecified malformation (NOS (non-genetic); not otherwise specified) > Minor malformation (non-genetic).