GENESIS: Genetic Screening Test For Abnormalities In Suspected Miscarriages

Anna Barrett

Cardiff and Vale University Health Board


Miscarriage has a devastating impact on families. The most common cause of early sporadic miscarriage is the presence of a chromosome abnormality, accounting for more than 50% of losses in the first trimester. Approximately 2% of couples suffering recurrent miscarriages carry a balanced chromosome rearrangement, which can result in chromosome abnormalities in the foetus.

Current guidelines recommend that when couples have had a third miscarriage the foetus should be tested for chromosomal abnormalities. Current genetic testing relies on the laboratory receiving products of conception. Collecting such material is distressing and problematic since in most cases patients will be at home at this time. Additionally, there is a high risk of an erroneous result as the sample may be maternal and not foetal in origin.

Project Aims


Outcomes and Next Steps

Microlab equipment

Bevan Exemplar Experience

I’ve gained some new skills, heard some great talks and really enjoyed hearing about developments in other areas of healthcare.