A New Prenatal Blood Test for Down Syndrome (RNA)

This study has been completed.
Sponsor:
Collaborator:
Sequenom, Inc.
Information provided by (Responsible Party):
Jack Canick, Ph.D., Women and Infants Hospital of Rhode Island
ClinicalTrials.gov Identifier:
NCT00877292
First received: April 6, 2009
Last updated: July 23, 2012
Last verified: July 2012
  Purpose

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.


Condition
Down Syndrome
Trisomy 21

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: The RNA (RNA-Based Noninvasive Aneuploidy) Study

Resource links provided by NLM:


Further study details as provided by Women and Infants Hospital of Rhode Island:

Primary Outcome Measures:
  • The RNA study is an observational trial whose primary aim is to document the performance (sensitivity and specificity) of a laboratory developed test (LDT), using fetal nucleic acid in maternal plasma to identify Down syndrome in early pregnancy. [ Time Frame: Within 1st and 2nd trimesters ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • The secondary aim is to develop a sample bank to allow documentation of subsequent improvements in the existing LDT or documenting performance of new methodologies. [ Time Frame: Late1st and early 2nd trimesters ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Fetal RNA and DNA in maternal plasma


Enrollment: 4664
Study Start Date: February 2009
Study Completion Date: May 2011
Primary Completion Date: January 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts
Down syndrome
Women having CVS or amniocentesis who, as a group, have a high prevalence of 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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Pregnant women between about 10 weeks and 21 weeks 6 days gestation who are undergoing a diagnostic procedure (i.e., chorionic villus sampling or amniocentesis) for karyotype analysis.

Criteria

Inclusion Criteria:

  • Pregnant women between about 10 weeks and 21 weeks 6 days gestation who are undergoing a diagnostic procedure (i.e., chorionic villus sampling or amniocentesis) for karyotype analysis who have, on average, a high prevalence of Down syndrome (about 1:30 to 1:50).
  • Three main sources are pregnancies screen positive for:

    1. the combined test at 10 to 13 weeks (NT, PAPP-A and hCG)
    2. the second trimester quadruple test at 15 to 18 weeks gestation
    3. integrated screening (PAPP-A and the quadruple test, with or without NT).
  • Variations of the integrated test such as sequential testing will also be acceptable.
  • Other, less common high risk groups would be women having diagnostic testing because of maternal age of 38 years or older at delivery, pregnancies with an abnormal ultrasound highly suggestive of a chromosome abnormality (e.g., major heart defect, clenched fist), and women with an inherited form of Down syndrome (Robertsonian translocation).

Exclusion Criteria:

  • Nonpregnant women and women at relatively low risk for a Down syndrome baby.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00877292

  Show 27 Study Locations
Sponsors and Collaborators
Women and Infants Hospital of Rhode Island
Sequenom, Inc.
Investigators
Principal Investigator: Barbara O'Brien, MD Women and Infants Hospital
  More Information

Publications:
Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Jack Canick, Ph.D., Prinicpal Investigator, Women and Infants Hospital of Rhode Island
ClinicalTrials.gov Identifier: NCT00877292     History of Changes
Other Study ID Numbers: 09-0004
Study First Received: April 6, 2009
Last Updated: July 23, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Women and Infants Hospital of Rhode Island:
Down Syndrome
trisomy 21
prenatal testing
pregnant women

Additional relevant MeSH terms:
Down Syndrome
Syndrome
Trisomy
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Aneuploidy
Chromosome Aberrations
Chromosome Duplication

ClinicalTrials.gov processed this record on September 18, 2014