Status:

COMPLETED

A New Prenatal Blood Test for Down Syndrome

Lead Sponsor:

Women and Infants Hospital of Rhode Island

Collaborating Sponsors:

Sequenom, Inc.

Conditions:

Down Syndrome

Trisomy 21

Eligibility:

FEMALE

18+ years

Brief 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 additio...

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 ...

Eligibility Criteria

Inclusion

  • 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:
  • the combined test at 10 to 13 weeks (NT, PAPP-A and hCG)
  • the second trimester quadruple test at 15 to 18 weeks gestation
  • 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

  • Nonpregnant women and women at relatively low risk for a Down syndrome baby.

Key Trial Info

Start Date :

February 1 2009

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

May 1 2011

Estimated Enrollment :

4664 Patients enrolled

Trial Details

Trial ID

NCT00877292

Start Date

February 1 2009

End Date

May 1 2011

Last Update

June 3 2015

Active Locations (27)

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Page 1 of 7 (27 locations)

1

University of Alabama at Birmingham

Birmingham, Alabama, United States, 35233

2

Cedars-Sinai Medical Center

Los Angeles, California, United States, 90048

3

Yale University School of Medicine

New Haven, Connecticut, United States, 06520

4

Northwestern University, FSM

Chicago, Illinois, United States, 60611