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Noninvasive 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: NCT00971334
Recruitment Status : Completed
First Posted : September 3, 2009
Last Update Posted : February 17, 2012
PRA Health Sciences
Information provided by (Responsible Party):
Sequenom, Inc.

Brief Summary:
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.

Condition or disease
Pregnancy Aneuploidy Down Syndrome Edwards Syndrome

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Study Type : Observational
Actual Enrollment : 2502 participants
Time Perspective: Prospective
Official Title: Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Study Start Date : August 2009
Actual Primary Completion Date : September 2011
Actual Study Completion Date : December 2011

Biospecimen Retention:   Samples With DNA
Plasma and PBMCs

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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

  • None

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): NCT00971334

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Sponsors and Collaborators
Sequenom, Inc.
PRA Health Sciences
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Study Director: Allan T Bombard, MD Sequenom, Inc.

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Responsible Party: Sequenom, Inc. Identifier: NCT00971334    
Other Study ID Numbers: SQNM-T21-202
First Posted: September 3, 2009    Key Record Dates
Last Update Posted: February 17, 2012
Last Verified: February 2012
Keywords provided by Sequenom, Inc.:
Down Syndrome
Additional relevant MeSH terms:
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Down Syndrome
Trisomy 18 Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases