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Non-Invasive Screening for Fetal Aneuploidy

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: NCT02317965
Recruitment Status : Active, not recruiting
First Posted : December 17, 2014
Last Update Posted : August 28, 2018
Obstetrix Medical Group
Information provided by (Responsible Party):
Progenity, Inc.

Brief Summary:
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.

Condition or disease Intervention/treatment
Down Syndrome Edwards Syndrome Other: Maternal Blood Draw

Detailed Description:
The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.

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Study Type : Observational
Estimated Enrollment : 340 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.
Study Start Date : March 2015
Estimated Primary Completion Date : November 2018
Estimated Study Completion Date : November 2018

Group/Cohort Intervention/treatment
Pregnant Women

Pregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure

Intervention: Single Maternal blood draw of 20mL

Other: Maternal Blood Draw
Maternal Blood Draw

Primary Outcome Measures :
  1. Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis [ Time Frame: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded. ]

    A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma.

    Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure.

    The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard.

Biospecimen Retention:   Samples With DNA
plasma, 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 to 54 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.

Inclusion Criteria:

  • • Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive;

    • Subject has additional risk indicators for fetal chromosome aneuploidy, including one or more of the following:
    • Maternal age > 34 years at the estimated date of delivery;
    • Positive serum screening test suggesting fetal aneuploidy;
    • Previous positive noninvasive cfDNA test is acceptable
    • Fetal ultrasound abnormality suggesting fetal chromosomal abnormality;
    • Personal or family history of Down syndrome or other chromosomal aneuploidy.
    • Willing to provide written informed consent
    • Willing to be re-contacted subsequently for additional information and/or testing if necessary.

Exclusion Criteria:

  • Subjects will not be entered into this study if they meet the following criteria:

    • Fetal demise at the time of the blood draw;
    • Previous specimen donation under this protocol;
    • Unwilling or lacks the capacity to provide informed consent or to comply with study procedures;
    • Currently under treatment for cancer
    • Any history of autoimmune disease
    • Any pelvic mass
    • Previous history of radiation to pelvis
    • Any history or current evidence of a twin demise at any gestational age.

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): NCT02317965

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United States, California
Obstetrix Medical Group of California
Campbell, California, United States, 92708
Long Beach Memorial Medical Ctr - 2nd Floor Perinatal
Long Beach, California, United States, 90806
United States, Colorado
OBX Med. Group. of Colorado - Pres/St Luke's Clinic
Denver, Colorado, United States, 80205
OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center
Denver, Colorado, United States, 80220
OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.
Englewood, Colorado, United States, 80113
OBX Med. Group. of Colorado - Skyridge
Lone Tree, Colorado, United States, 80124
United States, Tennessee
Regional Obstetrical Consultants
Chattanooga, Tennessee, United States, 37403
United States, Texas
Obstetrix Medical Group of Texas
Fort Worth, Texas, United States, 76104
Obstetrix Medical Group of Houston
The Woodlands, Texas, United States, 77380
United States, Washington
Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center
Seattle, Washington, United States, 98122
Sponsors and Collaborators
Progenity, Inc.
Obstetrix Medical Group
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Principal Investigator: Richard Porreco, MD Obstetrix Medical Group of Colorado
Study Director: Thomas Garite, MD Obstetrix Medical Group

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Responsible Party: Progenity, Inc. Identifier: NCT02317965     History of Changes
Other Study ID Numbers: PRO-100
First Posted: December 17, 2014    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases