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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01472523
Recruitment Status : Recruiting
First Posted : November 16, 2011
Last Update Posted : January 18, 2018
Information provided by (Responsible Party):
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.

Condition or disease
Aneuploidy, NIPT

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 Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Other
Time Perspective: Other
Official Title: A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood
Study Start Date : April 2007
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : July 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Prenatal Testing

T13, 18, 21 and other chromosomal abnormalities yet to be determined

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. Optimization of existing methods for maximising ffDNA [ Time Frame: 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.

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01472523

Contact: Victoria Hutchinson, BSc(hons) 01616676865
Contact: Claire Threlfall 01616676865

United Kingdom
Premaitha Health Recruiting
Manchester, United Kingdom, M156SZ
Contact: Victoria Hutchinson, BSc(hons)    01616676865   
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

Responsible Party: Premaitha Health Identifier: NCT01472523     History of Changes
Other Study ID Numbers: 07H0607101
First Posted: November 16, 2011    Key Record Dates
Last Update Posted: January 18, 2018
Last Verified: June 2017

Additional relevant MeSH terms:
Chromosome Aberrations
Pathologic Processes