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A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Controls | |||
| Aneuploidy | T13, 18, 21 and other chromosomal abnormalities yet to be determined |
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| Measure | Description | Time Frame |
|---|---|---|
| Validation of method of novel analysis for Aneuploidy | 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. | 2013 Approx |
| Measure | Description | Time Frame |
|---|---|---|
| Optimization of existing methods for maximising ffDNA | 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. | up to July 2019 |
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Inclusion Criteria:
Exclusion Criteria:
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Mothers attending clinic for routine screening. Followed up at around 1 years duration.
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| Name | Affiliation | Role |
|---|---|---|
| Brenda Kelly, MBBS | National Health Service, United Kingdom | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Premaitha Health | Manchester | M156SZ | United Kingdom |
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| ID | Term |
|---|---|
| D000782 | Aneuploidy |
| ID | Term |
|---|---|
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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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.