CClinicalTrials.gg
CompletedNCT00847990Updated Sep 5, 2011

Non-Invasive Screening for Fetal Aneuploidy

An observational study in Down Syndrome and Edwards Syndrome, sponsored by Sequenom, Inc.. Completed at 25 sites in United States. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2011-09-05.

Sponsored by Sequenom, Inc. · Observational

Study type
Observational
Model
Case-only
Time perspective
Cross-sectional
Enrollment
5,000
Ages
18 Years and older
Sex
Female
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Study 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.

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Conditions studied

  • Down Syndrome
  • Edwards Syndrome

Keywords

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

Down Syndrome

432 studies on the registry are indexed under Down Syndrome; 100 are open to participants now.

This study's planned enrollment of 5,000 is above the median of 150 across 141 observational studies indexed under Down Syndrome.

Browse Down Syndrome studies →

Lead sponsor

Sequenom, Inc. is the lead sponsor of 26 studies on the registry; 5 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
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.

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

Exclusion Criteria:

  • Subject lacks the capacity to provide informed consent
  • Twins, triplets or other multiple gestation
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Study design

Observational model
Case-only
Time perspective
Cross-sectional
Enrollment
5,000 participants (estimated)
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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

Interventions

  • OtherMaternal blood screening test for fetal aneuploidy

    One blood draw of 20 to 30 mL

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What researchers measure

Primary outcomes

  1. 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

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Study locations

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

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Sep 5, 2011, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00847990
Lead sponsor
Sequenom, Inc.
Collaborators
Obstetrix
Responsible party
Sponsor
First posted
Feb 20, 2009
Start date
Mar 2009
Primary completion
Apr 2011
Completion
Aug 2011
Last update
Sep 5, 2011

Study contacts

Richard Porreco, MD
principal investigator · Obstetrix Medical Group of Colorado
Thomas J Garite, MD
study director · Obstetrix

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Sep 2011. You cannot join it, but the record below documents what was studied.

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