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

NCT00770458 | Completed

• 1 other identifier: SQNM-Trisomy21-0100
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 7

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.

Conditions

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

Keywords

Down Syndrome

Outcome Measures

Primary Outcomes (1)

• Compare investigational assay results for Down Syndrome to standard of care results.

  3 months

Study Arms (1)

Pregnant women

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

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Fetal care and genetic counseling patients.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Sequenom, Inc.: lead

Study Sites (7)

UCSD Fetal Care & Genetics Center

La Jolla, California, 92037, United States

Location

San Diego Perinatal Center

San Diego, California, 92123, United States

Location

Obstetrix Medical Group of San Jose

San Jose, California, 95008, United States

Location

Obstetrix Medical Group of Colorado

Denver, Colorado, 80218, United States

Location

Women & Infants

Providence, Rhode Island, 02903, United States

Location

A.R.U.P.

Salt Lake City, Utah, 84108, United States

Location

Obstetrix Medical Group of Washington

Seattle, Washington, 98104, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma

MeSH Terms

Conditions

Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Turner Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Allan Bombard, MD

  Sequenom, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: October 8, 2008
• First Posted: October 10, 2008
• Study Start: June 1, 2008
• Primary Completion: October 1, 2009
• Study Completion: December 1, 2009
• Last Updated: January 6, 2010

Record last verified: 2010-01

Locations

US (7)