Non-Invasive Screening for Fetal Aneuploidy

Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

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.

Study Overview

• Status: Completed
• Conditions: Down Syndrome; Edwards Syndrome
• Intervention / Treatment: Other: Maternal blood screening test for fetal aneuploidy

• Study Type: Observational
• Enrollment (Anticipated): 5000

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis	During the 1st and 2nd trimester of pregnancy

Collaborators and Investigators

• Sponsor: Sequenom, Inc.
• Collaborators: Obstetrix
• Investigators: Principal Investigator: Richard Porreco, MD, Obstetrix Medical Group of Colorado; Study Director: Thomas J Garite, MD, Obstetrix

Study record dates

Study Major Dates

• Study Start: March 1, 2009
• Primary Completion (Actual): April 1, 2011
• Study Completion (Actual): August 1, 2011

Study Registration Dates

• First Submitted: February 18, 2009
• First Submitted That Met QC Criteria: February 19, 2009
• First Posted (Estimate): February 20, 2009

Study Record Updates

• Last Update Posted (Estimate): September 5, 2011
• Last Update Submitted That Met QC Criteria: September 1, 2011
• Last Verified: September 1, 2011

More Information

Terms related to this study

• Keywords: aneuploidy; Down syndrome; amniocentesis; chromosome abnormality; chorionic villus sampling; Laboratory Developed Test (LDT)
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Syndrome; Down Syndrome; Aneuploidy; Trisomy 18 Syndrome
• Other Study ID Numbers: SQNM-T21-301