A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Aneuploidy, NIPT
- Sponsor
- Premaitha Health
- Enrollment
- 1632
- Locations
- 1
- Primary Endpoint
- Validation of method of novel analysis for Aneuploidy
- Status
- Completed
- Last Updated
- 5 years ago
Overview
Brief Summary
A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.
Detailed Description
A total of \~2000 participants have donated blood samples used for the development and validation of the IONA non-invasive prenatal screening test for Downs, Edwards and Patau syndrome. The IONA Test was CE marked Feb 2013. We are now recruiting a further 800 participants to provide blood samples to further develop and verify the test for other chromosomal abnormalities and to improve test efficiency.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patient/subject is willing and able to give informed consent for participation in the study.
- •Female, aged 16 years or above.
- •Currently pregnant at time of entry to the study.
- •Pregnancy having been identified as 'high-risk' by screening test.
Exclusion Criteria
- •The patient/subject may not enter the study if ANY of the following apply:
- •The participant herself has Down's Syndrome or other chromosomal abnormality.
- •Children under 16
- •Adults with learning disabilities
- •Adults who are unconscious or very severely ill
- •Adults who have a terminal illness
- •Adults in emergency situations
- •Adults suffering from a mental illness
- •Adults with dementia
- •Prisoners
Outcomes
Primary Outcomes
Validation of method of novel analysis for Aneuploidy
Time Frame: 2013 Approx
Analysis of maternal blood by a selective amplification of fetal DNA over maternal DNA within that sample. Patients to be followed up for 1 year.
Secondary Outcomes
- Optimization of existing methods for maximising ffDNA(up to July 2019)