A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood

Completed

• Conditions: Aneuploidy, NIPT

• Registration Number: NCT01472523
• Lead Sponsor: Premaitha Health

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.

Study Timeline

• Study Start: 2007-04
• Study First Submitted: 2011-10-11
• Study First Submitted QC: 2011-11-15
• Study First Posted: 2011-11-16
• Primary Completion: 2018-02
• Study Completion: 2019-12
• Status Verified: 2020-06
• Last Update Submitted: 2020-06-09
• Last Update Posted: 2020-06-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 1632

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
• Young offenders
• Adults who are unable to consent for themselves
• Any person considered to have a particularly dependent relationship with investigators

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Validation of method of novel analysis for Aneuploidy	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 Outcome Measures

Name	Time	Method
Optimization of existing methods for maximising ffDNA	up to July 2019	Use of novel methods either in conjugation with existing methods or as a substitute for steps in existing methodologies- currently undergoing laboratory development that could increase the titre of fetal DNA within a given sample. Patients will be followed up for 1 year.

Trial Locations

Locations (1)

Premaitha Health; 🇬🇧 Manchester, United Kingdom