on-invasive diagnosis of fetal Down syndrome using fetal DNA or RNA present in the maternal blood

Recruiting

Conditions: Down syndrome
trisomy 21
10083624
10028920

Registration Number: NL-OMON32725

Lead Sponsor: niversitair Medisch Centrum Sint Radboud

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 260

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

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.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>As the test is suppose to replace the current non-invasive and invasive tests<br /><br>(for specific referral reasons), the characteristics of the test will have to<br /><br>be comparable to the current tests, as far as sensitivity and specificity are<br /><br>concerned.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Besides sensitivity and specificity, the robustness of the test has to be<br /><br>studied too (the number of technical failures).<br /><br><br /><br>As far as is known now, blood samples will have to be processed soon after<br /><br>withdrawal. A routine diagnostic test might be hampered by this, as not all<br /><br>samples will be drawn in the institute in which the test is performed and they<br /><br>may not always reach the laboratory within limited time (e.g. due to trafic).<br /><br>Therefore, before implementation into routine diagnosis, logistics will have to<br /><br>be studied (end of phase 2). </p><br>