Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Arcedi Biotech | INDUSTRY |
| Aarhus University Hospital | OTHER |
Not provided
Not provided
Not provided
Not provided
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.
The study has three main objects:
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| WGA | Experimental | DNA from the cells are amplified by whole genome amplification prior to genetic testing. |
|
| No-WGA | No Intervention | DNA from the cells are tested directly without whole genome amplification |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Whole genome amplification | Genetic | DNA is amplified by whole genome amplification |
|
| Measure | Description | Time Frame |
|---|---|---|
| Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14. | Evaluation of whether cbNIPT be performed in gestational week 7-8. | Within 2 years |
| Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification. | Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells. | Within 2 years (since data analysis is carried out later than sample collection) |
| Specificity and sensitivity of single cell analysis. | Evaluation of the sensitivity and specificity of single cell analysis. | Within 2 years |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fertility Unit, Aalborg University Hospital | Aalborg | 9000 | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33677749 | Result | Toft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn K, Nicolaisen BH, Christensen IB, Kolvraa M, Jeppesen LD, Schelde P, Vogel I, Uldbjerg N, Farlie R, Sommer S, Ostergard MLV, Jensen AN, Mogensen H, Kjartansdottir KR, Degn B, Okkels H, Ernst A, Pedersen IS. Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing. J Assist Reprod Genet. 2021 Aug;38(8):1959-1970. doi: 10.1007/s10815-021-02104-5. Epub 2021 Mar 7. |
| Label | URL |
|---|---|
| ARCEDI Biotech homepage | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
All patients had either one or two blood samples collected. Each blood sampled had either all cells lyzed or cells were split between lysis and whole genome amplification. Hence, the study is considered to have to seperate analysis each with two arms.
Not provided
Not provided
Not provided
Not provided