Clinical trial NCT01555346: Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Official title: A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Down Syndrome
Fetal Aneuploidy
Keywords: Down syndrome
fetal aneuploidy
trisomy
noninvasive prenatal test
Lead sponsor: Sequenom, Inc.
Sponsor class: INDUSTRY
First posted: 2012-03-15
Enrollment: 3062
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.

Brief summary: Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.


Eligibility criteria: Inclusion Criteria:

* Pregnant woman 18 years of age or older at 10 - 22 weeks gestation inclusive
* Subject has one or more high risk indicator for fetal chromosome 21 aneuploidy
* Subject provides signed and dated informed consent
* Subject agrees to provide a whole blood sample

Exclusion Criteria:

* Fetal demise at the time of the blood draw
* Previous specimen donation under this protocol

Primary outcomes:
measure: Clinical Assay Performance
timeFrame: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype.
Secondary outcomes:
measure: Subject selection bias assessment
timeFrame: A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure.
Other outcomes:
Locations:
city: Mobile
country: United States
facility: University of South Alabama
state: Alabama
city: Tucson
country: United States
facility: Visions Clinical Research Tuscon
state: Arizona
city: Campbell
country: United States
facility: Obstetrix Medical Group of California
state: California
city: Long Beach
country: United States
facility: Long Beach Memorial Medical Center
state: California
city: Los Angeles
country: United States
facility: Cedars-Sinai Medical Center
state: California
city: Monterey Park
country: United States
facility: San Gabriel Valley Perinatal Medical Center
state: California
city: San Diego
country: United States
facility: Scripps Clinic Carmel Valley
state: California
city: Miami
country: United States
facility: South Florida Perinatal
state: Florida
city: Miramar
country: United States
facility: Southeast Perinatal Associates - Miramar
state: Florida
city: Sunrise
country: United States
facility: Southeast Perinatal Associates - Weston
state: Florida
city: Honolulu
country: United States
facility: Hawaii Pacific Health
state: Hawaii
city: Iowa City
country: United States
facility: University of Iowa Health Care
state: Iowa
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Louisville
country: United States
facility: Norton Healthcare
state: Kentucky
city: Shreveport
country: United States
facility: Willis-Knighton Physician Network
state: Louisiana
city: Baltimore
country: United States
facility: University of Maryland
state: Maryland
city: Royal Oak
country: United States
facility: William Beaumont Hospital
state: Michigan
city: Kansas City
country: United States
facility: Saint Lukes Hospital of Kansas City
state: Missouri
city: Neptune
country: United States
facility: Jersey Shore University Medical Center
state: New Jersey
city: New Brunswick
country: United States
facility: Saint Peter's Hospital
state: New Jersey
city: Sewell
country: United States
facility: Virtua Health
state: New Jersey
city: Voorhees
country: United States
facility: Virtua Health
state: New Jersey
city: Cincinnati
country: United States
facility: University of Cincinnati
state: Ohio
city: Columbus
country: United States
facility: Complete Healthcare for Women
state: Ohio
city: Oklahoma City
country: United States
facility: University of Oklahoma Health Sciences Center
state: Oklahoma
city: Chatanooga
country: United States
facility: Regional Obstetrical Consultants
state: Tennessee
city: Seattle
country: United States
facility: Obstetrix Medical Group of Washington, Inc.
state: Washington
city: Toronto
country: Canada
facility: North York General Hospital
state: Ontario
city: Quebec City
country: Canada
facility: Chuq/Chul
state: Quebec
Study officials:
affiliation: Sequenom Laboratories
name: Juan-Sebastian Saldivar, MD
role: STUDY_DIRECTOR
References:
citation: Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
citation: Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
citation: Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.