A New Prenatal Blood Test for Down Syndrome

Completed

Conditions studied: Down Syndrome, Trisomy 21

In brief

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.

Key facts

Study ID

NCT00877292

Run by

Women and Infants Hospital of Rhode Island

People needed

4664

Starts

2009-02-01

Expected to finish

2011-05-01

Last updated by the study team

2015-06-03

Who can join

Age: 18 and older. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

• 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).

You may not qualify if…

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

Where it is running

• University of Alabama at Birmingham — Birmingham, Alabama, United States
• Cedars-Sinai Medical Center — Los Angeles, California, United States
• Yale University School of Medicine — New Haven, Connecticut, United States
• Northwestern University, FSM — Chicago, Illinois, United States
• University of Iowa Hospitals and Clinics — Iowa City, Iowa, United States
• Brigham and Women's Hospital — Boston, Massachusetts, United States
• Henry Ford Hospital — Detroit, Michigan, United States
• New Beginnings Perinatal Consultants — Providence, Rhode Island, United States
• Women and Infants Hospital — Providence, Rhode Island, United States
• Baylor College of Medicine — Houston, Texas, United States
• Intermountain Health Care — Murray, Utah, United States
• UVA Medical Center — Charlottesville, Virginia, United States
• Center for Medical Education and Clinical Investiagtion — Buenos Aires, Argentina
• Sociedad Italiana de Beneficencia en Buenos Aires - Hospital Italiano — Buenos Aires, Argentina
• University of Sydney — St Leonards, New South Wales, Australia
• University of Calgary — Calgary, Alberta, Canada
• Children's and Women's Hospital — Vancouver, British Columbia, Canada
• IWK Health Centre — Halifax, Nova Scotia, Canada
• North York General Hospital — Toronto, Ontario, Canada
• Imalab — Zlín, Zlín, Czechia
• Centrum lekarske genetiky s.r.o. — České Budějovice, Czechia
• Semmelweis University — Budapest, Hungary
• Pecs University — Pécs, Hungary
• Rotunda Hospital — Dublin, Ireland
• Rambam Medical Center — Haifa, Israel

Full record on ClinicalTrials.gov

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