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Bevan Exemplar Cohort 5 Projects

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:

  • Understanding pregnancy loss can provide important information for medical management, including treatment decisions, reproductive counselling and support patient care.
  • Non-invasive prenatal testing (NIPT) utilises maternal blood and can analyse DNA fragments from the placenta circulating in the blood. NIPT only requires a maternal blood sample, which could be taken when the patient presents at clinic. This is a less invasive and a more acceptable testing strategy for the patient. Additionally, a NIPT approach accounts for maternal material and can therefore more reliably produce results for the patients.
  • The All Wales Medical Genomics Service (AWMGS) is a UK leader in this field and currently offers NIPT to analyse three chromosomes during routine screening for pregnant women. Extending NIPT to be used in cases of recurrent miscarriage would have huge clinical, and potentially psychological, benefits for patients and their families suffering recurrent miscarriage. It will simplify the patient care pathway and deliver an accurate genetic result.
  • The GENESIS Health Technology Project aims to use and evaluate an innovative NIPT service for couples who have undergone recurrent miscarriages.


  • This project requires blood samples from patients undergoing a miscarriage when they present at the clinic. Participant recruitment had received ethical approval and sample collection had begun.
  • However, at the start of the pandemic all recruitment to research projects were halted in order for the hospitals to cope with the demands of COVID-19. This resulted in a pause for project GENESIS.
  • Since then, research recruitment has been reopened, but significant disruption has been caused to our clinical collaborators, from moving location, staff absences and higher clinical demand.
  • In addition, within the laboratory, jobs roles of project leaders have changed and COVID-19 has affected laboratory practices too.
  • As the patients are everyone’s first priority, patient care has come first for all collaborators and delivering and safe and effective service has been our primary aim. Unfortunately this has resulted limited patient recruitment and fewer than anticipated patient samples being collected.

Outcomes and Next Steps:

  • Although COVID-19 put an almost complete stop to this project, some progress has been made. The AWMGS has set up cutting edge technology in the laboratory that is capable of performing NIPT to look for foetal chromosomal abnormalities across the genome. This technology is currently in action for routine screening for three common chromosomal abnormalities in pregnancy.
  • This means both the technology and the laboratory are ready for the analysis of project GENESIS samples once sufficient numbers have been obtained.
  • Although project participant recruitment has been significantly disrupted during the pandemic, both the AWMGS and the clinical team at UHW Obstetrics and Gynaecology service are keen to continue our collaboration and aim to continue recruitment in the future.

Bevan Exemplar Experience:

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