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Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

This study has been completed.
PRA Health Sciences
Information provided by (Responsible Party):
Sequenom, Inc. Identifier:
First received: September 1, 2009
Last updated: February 15, 2012
Last verified: February 2012
The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploid test will be compared to the chromosomal analysis obtained via CVS or amniocentesis.

Pregnancy Aneuploidy Down Syndrome Edwards Syndrome

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

Resource links provided by NLM:

Further study details as provided by Sequenom, Inc.:

Biospecimen Retention:   Samples With DNA
Plasma and PBMCs

Enrollment: 2502
Study Start Date: August 2009
Study Completion Date: December 2011
Primary Completion Date: September 2011 (Final data collection date for primary outcome measure)

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
Pregnant women who are scheduled to undergo a CVS or amniocentesis procedure and will receive the FISH, karyotype and/or QF-PCR results from the procedure.

Inclusion Criteria:

  • Subject is female
  • Subject is pregnant
  • Subject is 18 years of age or older
  • Subject provides a signed and dated informed consent
  • Subject agrees to provide a 30-50mL blood sample
  • Subject is at increased risk for Down syndrome or other aneuploidies (greater than or equal to 35 years of age at time of delivery, elevated risk by maternal serum markers including Triple, Quad and integrated test, fetal birth defects or markers identified by ultrasound or family history of aneuploidy).
  • Subject plans to undergo an amniocentesis and/or CVS procedure
  • Subject agrees that the FISH, karyotype, and/or QF-PCR results obtained via the invasive procedure will be provided

Exclusion Criteria:

  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: NCT00971334

  Show 35 Study Locations
Sponsors and Collaborators
Sequenom, Inc.
PRA Health Sciences
Study Director: Allan T Bombard, MD Sequenom, Inc.
  More Information

Responsible Party: Sequenom, Inc. Identifier: NCT00971334     History of Changes
Other Study ID Numbers: SQNM-T21-202
Study First Received: September 1, 2009
Last Updated: February 15, 2012

Keywords provided by Sequenom, Inc.:
Down Syndrome

Additional relevant MeSH terms:
Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations processed this record on September 21, 2017