Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

Purpose

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

Conditions

  • Down Syndrome
  • Fetal Aneuploidy

Eligibility

Eligible Ages
Over 18 Years
Eligible Sex
Female
Accepts Healthy Volunteers
No

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

Phase
Study Type
Observational
Observational Model
Case-Only
Time Perspective
Prospective

Recruiting Locations

University of Alabama Birmingham
Birmingham, Alabama 35294
Contact:
Rachel Copper
205 934-5509
rachel.copper@obgyn.uab.edu

Cedars-Sinai Medical Center
Los Angeles, California 90048
Contact:
Deebra Smith, MD
310- 423-5860

Sharp-Rees Stealy Medical Group
San Diego, California 92101
Contact:
Mary LaPage
619 446-1624

UCSD
San Diego, California 92121
Contact:
Jason Chibuck
jchibuck@ucsd.edu

Women's Health Care Research
San Diego, California 92123
Contact:
Nora Martinez
858 505-8672
research@womenwellness.com

Specialty Obstetrics of San Diego
San Diego, California 92130
Contact:
Deborah Malone
858 794-7700
d.malone@specialtyobstetrics.com

Reproductive Genetics Institute
Chicago, Illinois 60602
Contact:
Denise Ginsberg
773 472-4900

University of Iowa Health Care
Iowa City, Iowa 52242
Contact:
Diedre Fleener
319 356-2913
deidre-fleener@uiowa.edu

Henry Ford Hospital
Detroit, Michigan 48202
Contact:
Ellen Martindell
313 916-3190
emartin1@hfhs.org

Spectrum Health
Grand Rapids, Michigan 49503
Contact:
Yvonne Edgerly
616 391-5066

The Cooper Health System
Camden, New Jersey
Contact:
Clare Hanson
hansen-clare@cooperhealth.edu

Medical University of South Carolina
Charleston, South Carolina 29466
Contact:
Betty Oswald
843 792-0347
oswaldbw@musc.edu

More Details

Status
Recruiting
Sponsor
Sequenom, Inc.

Study Contact

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.