Aneuploidy, NIPT
Conditions
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.
Interventions
None listed
Sponsors
Premaitha Health
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
FEMALE
Age
16 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United Kingdom
Outcome results
None listed