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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by Premaitha Health
Information provided by (Responsible Party):
Premaitha Health Identifier:
First received: October 11, 2011
Last updated: September 9, 2016
Last verified: September 2016
A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.

Aneuploidy, NIPT

Study Type: Observational
Official Title: A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood

Resource links provided by NLM:

Further study details as provided by Premaitha Health:

Primary Outcome Measures:
  • Validation of method of novel analysis for Aneuploidy [ Time Frame: 2013 Approx ] [ Designated as safety issue: No ]
    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:
  • Optimization of existing methods for maximising ffDNA [ Time Frame: up to July 2019 ] [ Designated as safety issue: No ]
    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.

Biospecimen Retention:   Samples With DNA

Maternal peripheral blood samples taken in EDTA with that required for existing analysis.

Approx 1ml of fluid from amniocentesis/chorionic villus sampling is taken additional. Patients will be followed up for 1 year after sample taken.

Estimated Enrollment: 600
Study Start Date: April 2007
Estimated Study Completion Date: July 2019
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)
T13, 18, 21 and other chromosomal abnormalities yet to be determined

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.

Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Mothers attending clinic for routine screening. Followed up at around 1 years duration.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01472523

Contact: Rosalyn Mazey, BSc(hons) 01616676865 ext 1037

United Kingdom
Premaitha Health Recruiting
Manchester, United Kingdom, M156SZ
Contact: Rosalyn Mazey, BSc(hons)    01616676865 ext 1037   
Contact: William Denman, MBBS    0016177630620   
Principal Investigator: Brenda Kelly, MBBS         
Sponsors and Collaborators
Premaitha Health
Principal Investigator: Brenda Kelly, MBBS National Health Service, United Kingdom
  More Information

Responsible Party: Premaitha Health Identifier: NCT01472523     History of Changes
Other Study ID Numbers: 07H0607101 
Study First Received: October 11, 2011
Last Updated: September 9, 2016
Health Authority: United Kingdom: Medicines and Healthcare Products Regulatory Agency

Additional relevant MeSH terms:
Chromosome Aberrations
Pathologic Processes processed this record on October 21, 2016