Non-Invasive Screening for Fetal Aneuploidy

Brief Title

Non-Invasive Screening for Fetal Aneuploidy

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.

Brief Summary

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

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.
    


Study Type

Observational


Primary Outcome

Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis


Condition

Down Syndrome

Intervention

Maternal Blood Draw

Study Arms / Comparison Groups

 Pregnant Women
Description:  Pregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure
Intervention: Single Maternal blood draw of 20mL

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

340

Start Date

March 2015

Completion Date

November 2018

Primary Completion Date

November 2018

Eligibility Criteria

        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.
      

Gender

Female

Ages

18 Years - 54 Years

Accepts Healthy Volunteers

No

Contacts

Richard Porreco, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02317965

Organization ID

PRO-100


Responsible Party

Sponsor

Study Sponsor

Progenity, Inc.

Collaborators

 Obstetrix Medical Group

Study Sponsor

Richard Porreco, MD, Principal Investigator, Obstetrix Medical Group of Colorado


Verification Date

August 2018