Clinical trial NCT00847990: Non-Invasive Screening for Fetal Aneuploidy
Official title: Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Down Syndrome
Edwards Syndrome
Keywords: Down syndrome
aneuploidy
chromosome abnormality
amniocentesis
chorionic villus sampling
Laboratory Developed Test (LDT)
Lead sponsor: Sequenom, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Obstetrix
First posted: 2009-02-20
Enrollment: 5000
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.

Brief summary: The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.


Eligibility criteria: Inclusion Criteria:

* Subject is willing to provide written informed consent
* Pregnant female with singleton gestation 18 years of age or older
* Subject agrees to provide a 20 to 30 mL venous blood sample
* Subject is one of the following: A) currently scheduled to undergo an amniocentesis and/or CVS procedure, OR B) currently in the first trimester of pregnancy and planning to undergo an amniocentesis in the second trimester
* Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy

Exclusion Criteria:

* Subject lacks the capacity to provide informed consent
* Twins, triplets or other multiple gestation

Primary outcomes:
measure: Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis
timeFrame: During the 1st and 2nd trimester of pregnancy
Secondary outcomes:
Other outcomes:
Locations:
city: Mesa
country: United States
facility: Desert Good Samaritan Hospital
state: Arizona
city: Phoenix
country: United States
facility: Banner Good Samaritan Hospital
state: Arizona
city: Phoenix
country: United States
facility: Phoenix Perinatal Associates, Phoenix Arizona Clinic
state: Arizona
city: Tucson
country: United States
facility: Obstetric Perinatal Clinic Tucson (WOMB)
state: Arizona
city: Laguna Hills
country: United States
facility: Fetal Diagnostic Center
state: California
city: Long Beach
country: United States
facility: Long Beach Memorial Medical Center - Magella Medical Group
state: California
city: San Jose
country: United States
facility: Obstetrix Medical Group of California - Hamilton
state: California
city: Denver
country: United States
facility: Obstetrix Medical Group - Colorado at Presbyterian/St. Luke's Center
state: Colorado
city: Denver
country: United States
facility: Obstetrix Medical Group Colorado - Antepartum Testing Unit at Rose Medical Center
state: Colorado
city: Englewood
country: United States
facility: Obstetrix Medical Group Colorada - Perinatal Resource Center at Swedish Medical Center
state: Colorado
city: Littleton
country: United States
facility: Obstetrix Medical Group - Colorado at Littleton Adventist Hospital Perinatal Care Center
state: Colorado
city: Lonetree
country: United States
facility: Obstetrix Medical Group Colorado at Skyridge Medical Center
state: Colorado
city: Atlanta
country: United States
facility: Maternal Fetal Specialists - Northside Atlanta Geogia
state: Georgia
city: Duluth
country: United States
facility: Maternal Fetal Specialist of John's Creek
state: Georgia
city: Lawrenceville
country: United States
facility: Maternal Fetal Specialists - Gwinnett
state: Georgia
city: Kansas City
country: United States
facility: Obstetrix Medical Group of Kansas City, Missouri, Saint Luke's Perinatal Center
state: Missouri
city: Las Vegas
country: United States
facility: Center for Maternal Fetal Medicine - 7 Hills Office
state: Nevada
city: Las Vegas
country: United States
facility: Center for Maternal Fetal Medicine - Pinto Office
state: Nevada
city: Las Vegas
country: United States
facility: Center for Maternal Fetal Medicine - Post Road Office
state: Nevada
city: Chattanooga
country: United States
facility: Regional Obstetrical Consultants, Chattanooga Tennessee
state: Tennessee
city: Knoxville
country: United States
facility: Regional Obstetrical Consultants, Knoxville Tennessee
state: Tennessee
city: San Antonio
country: United States
facility: Texas Prenatal Group of San Antonio
state: Texas
city: Bellevue
country: United States
facility: Obstetrix Medical Group of Washington, Eastside Maternal Fetal Medicine
state: Washington
city: Kirkland
country: United States
facility: Obstetrix Medical Group of Washington, MFM Clinic at Evergreen Medical Center
state: Washington
city: Seattle
country: United States
facility: Obstetrix Medical Group of Washington, Inc
state: Washington
Study officials:
affiliation: Obstetrix Medical Group of Colorado
name: Richard Porreco, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Obstetrix
name: Thomas J Garite, MD
role: STUDY_DIRECTOR
References: