Non-Invasive Screening for Fetal Aneuploidy - Full Text View

Purpose

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.

Condition	Intervention
Down Syndrome Edwards Syndrome	Other: Maternal blood screening test for fetal aneuploidy


Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Cross-Sectional
Official Title:	Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

Resource links provided by NLM:

Genetics Home Reference related topics: CASK-related intellectual disability Down syndrome SYNGAP1-related intellectual disability trisomy 18

MedlinePlus related topics: Down Syndrome

Genetic and Rare Diseases Information Center resources: Trisomy 18

U.S. FDA Resources

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:

Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis [ Time Frame: During the 1st and 2nd trimester of pregnancy ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

plasma, PBMCs


Estimated Enrollment:	5000
Study Start Date:	March 2009
Study Completion Date:	August 2011
Primary Completion Date:	April 2011 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
Pregnant women 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.	Other: Maternal blood screening test for fetal aneuploidy One blood draw of 20 to 30 mL

Eligibility


Ages Eligible for Study:	18 Years and older (Adult, Senior)
Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No
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.

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

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00847990

Locations


United States, Arizona
Desert Good Samaritan Hospital
Mesa, Arizona, United States, 85202
Banner Good Samaritan Hospital
Phoenix, Arizona, United States, 85006
Phoenix Perinatal Associates, Phoenix Arizona Clinic
Phoenix, Arizona, United States, 85014
Obstetric Perinatal Clinic Tucson (WOMB)
Tucson, Arizona, United States, 85712
United States, California
Fetal Diagnostic Center
Laguna Hills, California, United States, 92653
Long Beach Memorial Medical Center - Magella Medical Group
Long Beach, California, United States, 90806
Obstetrix Medical Group of California - Hamilton
San Jose, California, United States, 95124
United States, Colorado
Obstetrix Medical Group - Colorado at Presbyterian/St. Luke's Center
Denver, Colorado, United States, 80218
Obstetrix Medical Group Colorado - Antepartum Testing Unit at Rose Medical Center
Denver, Colorado, United States, 80220
Obstetrix Medical Group Colorada - Perinatal Resource Center at Swedish Medical Center
Englewood, Colorado, United States, 80113
Obstetrix Medical Group - Colorado at Littleton Adventist Hospital Perinatal Care Center
Littleton, Colorado, United States, 80122
Obstetrix Medical Group Colorado at Skyridge Medical Center
Lonetree, Colorado, United States, 80124
United States, Georgia
Maternal Fetal Specialists - Northside Atlanta Geogia
Atlanta, Georgia, United States, 303342
Maternal Fetal Specialist of John's Creek
Duluth, Georgia, United States, 30097
Maternal Fetal Specialists - Gwinnett
Lawrenceville, Georgia, United States, 30045
United States, Missouri
Obstetrix Medical Group of Kansas City, Missouri, Saint Luke's Perinatal Center
Kansas City, Missouri, United States, 64111
United States, Nevada
Center for Maternal Fetal Medicine - 7 Hills Office
Las Vegas, Nevada, United States, 89052
Center for Maternal Fetal Medicine - Pinto Office
Las Vegas, Nevada, United States, 89106
Center for Maternal Fetal Medicine - Post Road Office
Las Vegas, Nevada, United States, 89148
United States, Tennessee
Regional Obstetrical Consultants, Chattanooga Tennessee
Chattanooga, Tennessee, United States, 37403
Regional Obstetrical Consultants, Knoxville Tennessee
Knoxville, Tennessee, United States, 37920
United States, Texas
Texas Prenatal Group of San Antonio
San Antonio, Texas, United States, 78229
United States, Washington
Obstetrix Medical Group of Washington, Eastside Maternal Fetal Medicine
Bellevue, Washington, United States, 98004
Obstetrix Medical Group of Washington, MFM Clinic at Evergreen Medical Center
Kirkland, Washington, United States, 98034
Obstetrix Medical Group of Washington, Inc
Seattle, Washington, United States, 98104-3405

Sponsors and Collaborators

Sequenom, Inc.

Obstetrix

Investigators


Principal Investigator:	Richard Porreco, MD	Obstetrix Medical Group of Colorado
Study Director:	Thomas J Garite, MD	Obstetrix

More Information


Responsible Party:	Sequenom, Inc.
ClinicalTrials.gov Identifier:	NCT00847990 History of Changes
Other Study ID Numbers:	SQNM-T21-301
Study First Received:	February 18, 2009
Last Updated:	September 1, 2011
Health Authority:	United States: Institutional Review Board

Keywords provided by Sequenom, Inc.:


Down syndrome aneuploidy chromosome abnormality	amniocentesis chorionic villus sampling Laboratory Developed Test (LDT)

Additional relevant MeSH terms:


Syndrome Down Syndrome Aneuploidy Disease Pathologic Processes Intellectual Disability Neurobehavioral Manifestations	Neurologic Manifestations Nervous System Diseases Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Chromosome Aberrations

ClinicalTrials.gov processed this record on September 26, 2016