Down syndrome trisomy 21
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Sint Radboud
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Only if an invasive procedure is planned, pregnant women will be asked to participate in the study. Main focus will be pregant women in the first trimester of pregnancy. However, to validate the methods to be used, also a small group of pregnant women with other gestational ages will be asked to participate as well as pregnant women who already underwent an invasive test. Furthermore, a small control group of man and non-pregnant women will be asked to participate.
Exclusion criteria
Exclusion criteria: After the initial phase, during which the methods to be used have to be validated and during which pregnant women who already underwent an invasive test and/or with an gestational age of more than 12 weeks can be included, women who already underwent an invasive test will be excluded. Furthermore, samples will not be included if informed consent is not signed.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| As the test is suppose to replace the current non-invasive and invasive tests (for specific referral reasons), the characteristics of the test will have to be comparable to the current tests, as far as sensitivity and specificity are concerned. | — |
Secondary
| Measure | Time frame |
|---|---|
| Besides sensitivity and specificity, the robustness of the test has to be studied too (the number of technical failures). As far as is known now, blood samples will have to be processed soon after withdrawal. A routine diagnostic test might be hampered by this, as not all samples will be drawn in the institute in which the test is performed and they may not always reach the laboratory within limited time (e.g. due to trafic). Therefore, before implementation into routine diagnosis, logistics will have to be studied (end of phase 2). | — |
Countries
Netherlands
Outcome results
None listed