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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00770458
Recruitment Status : Completed
First Posted : October 10, 2008
Last Update Posted : January 6, 2010
Information provided by:
Sequenom, Inc.

Brief Summary:
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.

Condition or disease
Down Syndrome (Trisomy 21) Edwards Syndrome (Trisomy 18) Patau Syndrome (Trisomy 13) Turner Syndrome

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Study Start Date : June 2008
Primary Completion Date : October 2009
Study Completion Date : December 2009

Pregnant women
Pregnant women that will undergo standard of care procedures to evaluate fetus for Down Syndrome

Primary Outcome Measures :
  1. Compare investigational assay results for Down Syndrome to standard of care results. [ Time Frame: 3 months ]

Biospecimen Retention:   Samples Without DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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.

Responsible Party: Elizabeth Dragon / Sr. VP Research & Development, Sequenom, Inc. Identifier: NCT00770458     History of Changes
Other Study ID Numbers: SQNM-Trisomy21-0100
First Posted: October 10, 2008    Key Record Dates
Last Update Posted: January 6, 2010
Last Verified: January 2010

Keywords provided by Sequenom, Inc.:
Down Syndrome

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