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Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

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ClinicalTrials.gov Identifier: NCT01429389
Recruitment Status : Recruiting
First Posted : September 7, 2011
Last Update Posted : October 31, 2016
Information provided by (Responsible Party):

Study Description
Brief Summary:
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Condition or disease
Down Syndrome Fetal Aneuploidy

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.

Study Design

Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma
Study Start Date : May 2011
Estimated Primary Completion Date : December 2016
Estimated Study Completion Date : March 2017

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome
U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Biospecimen Retention:   Samples With DNA
Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes 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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01429389

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         
Sharp-Rees Stealy Medical Group Recruiting
San Diego, California, United States, 92101
Contact: Mary LaPage    619-446-1624      
Principal Investigator: Denis Tarakjian, 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         
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 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 Recruiting
Toronto, Ontario, Canada
Contact: Clare Gibbons    416 756-6788    clare.gibbons@nygh.on.ca   
Principal Investigator: Wendy Meschino, MD         
Sponsors and Collaborators
Sequenom, Inc.
Study Director: Daniel Grosu, MD Sequenom, Inc.
More Information

Responsible Party: Sequenom, Inc.
ClinicalTrials.gov Identifier: NCT01429389     History of Changes
Other Study ID Numbers: SQNM-T21-107
First Posted: September 7, 2011    Key Record Dates
Last Update Posted: October 31, 2016
Last Verified: October 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Samples are used for research and development of a noninvasive prenatal test. However, samples used for publications will have data shared as defined by journal.

Keywords provided by Sequenom, Inc.:
Down syndrome
fetal aneuploidy
noninvasive screening test

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