Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy - Full Text View

Purpose

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Condition
Down Syndrome Fetal Aneuploidy

Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Prospective
Official Title:	Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Aneuploidy for Use in Development of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 Circulating Cell-Free DNA Extracted From Maternal Plasma

Resource links provided by NLM:

Genetics Home Reference related topics: Down syndrome tetrasomy 18p

MedlinePlus related topics: Down Syndrome

U.S. FDA Resources

Further study details as provided by Sequenom, Inc.:

Biospecimen Retention: Samples With DNA

Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.

Estimated Enrollment:	2000
Study Start Date:	May 2011
Estimated Study Completion Date:	March 2014
Estimated Primary Completion Date:	December 2013 (Final data collection date for primary outcome measure)

Detailed Description:

To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.

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 10 and 22 weeks of gestation who are scheduled to undergo a CVS or amniocentesis procedure and will receive the fetal FISH, karyotype and/or QF-PCR results from the procedure.

Criteria

Inclusion Criteria:

pregnant between 10 and 22 weeks gestation
18 years of age or older
provides signed and dated informed consent
subject is at increased risk for fetal aneuploidy
subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
subject agrees to provide the genetic results of the invasive procedure

Exclusion Criteria:

Fetal demise at time of specimen sampling
Previous sample donation under this protocol

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01429389

Locations

United States, Alabama
University of Alabama Birmingham	Recruiting
Birmingham, Alabama, United States, 35294
Contact: Rachel Copper 205-934-5509 rachel.copper@obgyn.uab.edu
Principal Investigator: Joseph Biggio, MD
United States, California
Cedars-Sinai Medical Center	Recruiting
Los Angeles, California, United States, 90048
Contact: Deebra Smith, MD 310-423-5860
Principal Investigator: John Williams, MD
UCSD	Recruiting
San Diego, California, United States, 92121
Contact: Jason Chibuck jchibuck@ucsd.edu
Principal Investigator: Andrew Hull, MD
Women's Health Care Research	Recruiting
San Diego, California, United States, 92123
Contact: Nora Martinez 858-505-8672 research@womenwellness.com
Principal Investigator: Rovena Reagan, MD
Sharp-Rees Stealy Medical Group	Recruiting
San Diego, California, United States, 92101
Contact: Mary LaPage 619-446-1624
Principal Investigator: Denis Tarakjian, MD
Specialty Obstetrics of San Diego	Recruiting
San Diego, California, United States, 92130
Contact: Deborah Malone 858-794-7700 d.malone@specialtyobstetrics.com
Principal Investigator: David Dowling, MD
United States, Illinois
Reproductive Genetics Institute	Recruiting
Chicago, Illinois, United States, 60602
Contact: Denise Ginsberg 773-472-4900
Principal Investigator: Norman Ginsberg, MD
United States, Iowa
University of Iowa Health Care	Recruiting
Iowa City, Iowa, United States, 52242
Contact: Diedre Fleener 319-356-2913 deidre-fleener@uiowa.edu
Principal Investigator: Kristi Borowski, MD
United States, Michigan
Henry Ford Hospital	Recruiting
Detroit, Michigan, United States, 48202
Contact: Ellen Martindell 313-916-3190 emartin1@hfhs.org
Principal Investigator: Jacquelyn Roberson, MD
Spectrum Health	Recruiting
Grand Rapids, Michigan, United States, 49503
Contact: Yvonne Edgerly 616-391-5066
Principal Investigator: Asad Sheikh, MD
United States, New Jersey
The Cooper Health System	Not yet recruiting
Camden, New Jersey, United States
Contact: Clare Hanson hansen-clare@cooperhealth.edu
Principal Investigator: Meena Khandelwal, MD
United States, South Carolina
Medical University of South Carolina	Recruiting
Charleston, South Carolina, United States, 29466
Contact: Betty Oswald 843-792-0347 oswaldbw@musc.edu
Principal Investigator: Christopher Robinson, MD
Canada, Nova Scotia
IWK Health Centre	Recruiting
Halifax, Nova Scotia, Canada, B3K 6R8
Contact: Cora Fanning 902 470-7158 cora.fanning@iwk.nshealth.ca
Principal Investigator: Jo-Ann Brock, MD
Canada, Ontario
North York General Hospital	Active, not recruiting
Toronto, Ontario, Canada

Sponsors and Collaborators

Sequenom, Inc.

Investigators

Study Director:

Allan T Bombard, MD, MBA

Sequenom, Inc.

More Information

No publications provided

Responsible Party:	Sequenom, Inc.
ClinicalTrials.gov Identifier:	NCT01429389 History of Changes
Other Study ID Numbers:	SQNM-T21-107
Study First Received:	September 2, 2011
Last Updated:	April 10, 2013
Health Authority:	Canada: Health Canada

Keywords provided by Sequenom, Inc.:

Down syndrome
fetal aneuploidy
trisomy
noninvasive screening test

Additional relevant MeSH terms:

Aneuploidy
Down Syndrome
Chromosome Aberrations
Pathologic Processes
Mental Retardation
Neurobehavioral Manifestations

Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 23, 2013