NCT00877292

A New Prenatal Blood Test for Down Syndrome

The RNA (RNA-Based Noninvasive Aneuploidy) Study

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 4,664 (actual)
• Sponsor: Women and Infants Hospital of Rhode Island · Academic / Other
• Sex: Female
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The study will examine the sensitivity and specificity of a circulating cell-free nucleic acid test (DNA/RNA) to identify Down syndrome between about 10 weeks and 21 weeks 6 days gestation. In addition, the new test may be used to identify trisomy 13 and 18 as part of a more complete laboratory developed test. We hypothesize that the new circulating cell-free fetal NA-based test will accurately and precisely measure specific fetal markers in maternal circulation and that measurement will lead to the ability to noninvasively identify with high sensitivity and specificity, fetal chromosome abnormalities, such as Down syndrome.

Detailed description

The RNA study is an observational trial whose primary aim is to document the performance (sensitivity and specificity) of one or more laboratory developed test (LDT) using circulating cell-free fetal nucleic acids from maternal plasma to identify Down syndrome. Multiple test modalities are being pursued, including massively parallel sequencing and those utilizing differential methylation. The population being studied is women already having a diagnostic test (e.g., amniocentesis, CVS) between 10 weeks and 21 weeks 6 days gestation, and whose pregnancy is at high risk for having Down syndrome. The women provide informed consent. The karyotype will provide the gold standard against which the LDT test is judged. Samples and karyotypes will be collected from up to 25 prenatal diagnostic centers around the world and tested in several laboratories in the United States. The secondary aim is to develop a nucleic acid sample bank to allow documentation of subsequent improvements or new methodologies to identify fetal aneuploidy using circulating cell-free fetal nucleic acids.

Conditions

• Down Syndrome
• Trisomy 21

Timeline

• Start date: 2009-02-01
• Primary completion: 2011-01-01
• Completion: 2011-05-01
• First posted: 2009-04-07
• Last updated: 2015-06-03

Locations

27 sites across 10 countries: United States, Argentina, Australia, Canada, Czechia, Hungary, Ireland, Israel, Italy, Spain