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

This study has been completed.
Information provided by:
Sequenom, Inc. Identifier:
First received: October 8, 2008
Last updated: January 4, 2010
Last verified: January 2010
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

Down Syndrome (Trisomy 21)
Edwards Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13)
Turner Syndrome

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

Resource links provided by NLM:

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:
  • Compare investigational assay results for Down Syndrome to standard of care results. [ Time Frame: 3 months ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples Without DNA

Estimated Enrollment: 1000
Study Start Date: June 2008
Study Completion Date: December 2009
Primary Completion Date: October 2009 (Final data collection date for primary outcome measure)
Pregnant women
Pregnant women that will undergo standard of care procedures to evaluate fetus for Down Syndrome


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Fetal care and genetic counseling patients.

Inclusion Criteria:

  • Subject is female
  • Subject is pregnant
  • Subject is high risk aneuploid patient undergoing genetic counseling, unltrasound screening, amniocentesis and/or CVS procedure
  • Subject is willing to provide blood specimen

Exclusion Criteria:

  • Subject is not pregnant
  • Subject is not willing to provide blood specimen
  • Subject is not haveing aneuploid screening
  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 identifier: NCT00770458

United States, California
UCSD Fetal Care & Genetics Center
La Jolla, California, United States, 92037
San Diego Perinatal Center
San Diego, California, United States, 92123
Obstetrix Medical Group of San Jose
San Jose, California, United States, 95008
United States, Colorado
Obstetrix Medical Group of Colorado
Denver, Colorado, United States, 80218
United States, Rhode Island
Women & Infants
Providence, Rhode Island, United States, 02903
United States, Utah
Salt Lake City, Utah, United States, 84108
United States, Washington
Obstetrix Medical Group of Washington
Seattle, Washington, United States, 98104
Sponsors and Collaborators
Sequenom, Inc.
Study Director: Allan Bombard, MD Sequenom, Inc.
  More Information

Responsible Party: Elizabeth Dragon / Sr. VP Research & Development, Sequenom, Inc. Identifier: NCT00770458     History of Changes
Other Study ID Numbers: SQNM-Trisomy21-0100 
Study First Received: October 8, 2008
Last Updated: January 4, 2010
Health Authority: United States: Institutional Review Board

Keywords provided by Sequenom, Inc.:
Down Syndrome

Additional relevant MeSH terms:
Down Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Turner Syndrome
Abnormalities, Multiple
Adnexal Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Chromosome Aberrations
Chromosome Disorders
Chromosome Duplication
Congenital Abnormalities
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Female
Gonadal Disorders
Heart Defects, Congenital
Heart Diseases
Intellectual Disability
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Ovarian Diseases
Pathologic Processes
Sex Chromosome Disorders processed this record on April 27, 2016