Recruiting

Observational Study

Sponsor:

Sequenom, Inc.

Code:

NCT01429389

Conditions

Down Syndrome

Fetal Aneuploidy

Eligibility Criteria

Sex: Female

Age: 18+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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

Conditions

Down Syndrome

Fetal Aneuploidy

Study ID

NCT01429389

Start date

May, 2011

Status verified date

Sep, 2026

Completion date

Mar, 2028

Anticipated

Primary completion date

Dec, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 18+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Collect samples and data for assay validation. [ Time Frame: 9-24 weeks of gestatational age ]

Central Contacts and Locations

Locations

University of Alabama Birmingham

Recruiting

Birmingham, Alabama, United States, 35294

Contacts

Rachel Copper

205 934-5509rachel.copper@obgyn.uab.edu

Principal Investigator:

Joseph Biggio, MD

Cedars-Sinai Medical Center

Recruiting

Los Angeles, California, United States, 90048

Contacts

Deebra Smith, MD

310- 423-5860

Principal Investigator:

John Williams, MD

Sharp-Rees Stealy Medical Group

Recruiting

San Diego, California, United States, 92101

Contacts

Mary LaPage

619 446-1624

Principal Investigator:

Denis Tarakjian, MD

UCSD

Recruiting

San Diego, California, United States, 92121

Contacts

Jason Chibuck

jchibuck@ucsd.edu

Principal Investigator:

Andrew Hull, MD

Women's Health Care Research

Recruiting

San Diego, California, United States, 92123

Contacts

Nora Martinez

858 505-8672research@womenwellness.com

Principal Investigator:

Rovena Reagan, MD

Specialty Obstetrics of San Diego

Recruiting

San Diego, California, United States, 92130

Contacts

Deborah Malone

858 794-7700d.malone@specialtyobstetrics.com

Principal Investigator:

David Dowling, MD

Reproductive Genetics Institute

Recruiting

Chicago, Illinois, United States, 60602

Contacts

Denise Ginsberg

773 472-4900

Principal Investigator:

Norman Ginsberg, MD

University of Iowa Health Care

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

Diedre Fleener

319 356-2913deidre-fleener@uiowa.edu

Principal Investigator:

Kristi Borowski, MD

Henry Ford Hospital

Recruiting

Detroit, Michigan, United States, 48202

Contacts

Ellen Martindell

313 916-3190emartin1@hfhs.org

Principal Investigator:

Jacquelyn Roberson, MD

Spectrum Health

Recruiting

Grand Rapids, Michigan, United States, 49503

Contacts

Yvonne Edgerly

616 391-5066

Principal Investigator:

Asad Sheikh, MD

The Cooper Health System

Recruiting

Camden, New Jersey, United States

Contacts

Clare Hanson

hansen-clare@cooperhealth.edu

Principal Investigator:

Meena Khandelwal, MD

Medical University of South Carolina

Recruiting

Charleston, South Carolina, United States, 29466

Contacts

Betty Oswald

843 792-0347oswaldbw@musc.edu

Principal Investigator:

Christopher Robinson, MD

IWK Health Centre

Recruiting

Halifax, Nova Scotia, Canada, B3K 6R8

Contacts

Cora Fanning

902 470-7158cora.fanning@iwk.nshealth.ca

Principal Investigator:

Jo-Ann Brock, MD

North York General Hospital

Recruiting

Toronto, Ontario, Canada

Contacts

Clare Gibbons

416 756-6788clare.gibbons@nygh.on.ca

Principal Investigator:

Wendy Meschino, MD

More Information

Sponsor

Sequenom, Inc.

Last update posted

Sep 9, 2026

Last verified

Sep, 2026

Keywords

  • Down syndrome
  • fetal aneuploidy
  • trisomy
  • noninvasive screening test

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-21. This information was provided to ClinicalTrials.gov by Sequenom, Inc. on 2026-09-09.