Clinical trial NCT01429389: Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy
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 type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Down Syndrome
Fetal Aneuploidy
Keywords: Down syndrome
fetal aneuploidy
trisomy
noninvasive screening test
Lead sponsor: Sequenom, Inc.
Sponsor class: INDUSTRY
First posted: 2011-09-07
Enrollment: 2000
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_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 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.

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

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 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama Birmingham
state: Alabama
city: Los Angeles
country: United States
facility: Cedars-Sinai Medical Center
state: California
city: San Diego
country: United States
facility: Sharp-Rees Stealy Medical Group
state: California
city: San Diego
country: United States
facility: UCSD
state: California
city: San Diego
country: United States
facility: Women's Health Care Research
state: California
city: San Diego
country: United States
facility: Specialty Obstetrics of San Diego
state: California
city: Chicago
country: United States
facility: Reproductive Genetics Institute
state: Illinois
city: Iowa City
country: United States
facility: University of Iowa Health Care
state: Iowa
city: Detroit
country: United States
facility: Henry Ford Hospital
state: Michigan
city: Grand Rapids
country: United States
facility: Spectrum Health
state: Michigan
city: Camden
country: United States
facility: The Cooper Health System
state: New Jersey
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Halifax
country: Canada
facility: IWK Health Centre
state: Nova Scotia
city: Toronto
country: Canada
facility: North York General Hospital
state: Ontario
Study officials:
affiliation: Sequenom, Inc.
name: Daniel Grosu, MD
role: STUDY_DIRECTOR
References: