Non-Invasive Screening for Fetal Aneuploidy

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.

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

Study Overview

• Status: Unknown
• Conditions: Down Syndrome; Edwards Syndrome
• Intervention / Treatment: 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.

• Study Type: Observational
• Enrollment (Anticipated): 340

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 54 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Progenity, Inc.
• Collaborators: Obstetrix Medical Group
• Investigators: Principal Investigator: Richard Porreco, MD, Obstetrix Medical Group of Colorado; Study Director: Thomas Garite, MD, Obstetrix Medical Group

Publications and helpful links

General Publications

• Porreco RP, Sekedat M, Bombard A, Garite TJ, Maurel K, Marusiak B, Adair D, Bleich A, Combs CA, Kramer W, Longo S, Nageotte M, Samuel A, Vanderhoeven J, Buis J, Jacobs KB, Stoerker J. Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma. J Med Screen. 2020 Mar;27(1):1-8. doi: 10.1177/0969141319873682. Epub 2019 Sep 11.

Study record dates

Study Major Dates

• Study Start: March 1, 2015
• Primary Completion (Anticipated): November 1, 2018
• Study Completion (Anticipated): November 1, 2018

Study Registration Dates

• First Submitted: December 9, 2014
• First Submitted That Met QC Criteria: December 11, 2014
• First Posted (Estimate): December 17, 2014

Study Record Updates

• Last Update Posted (Actual): August 28, 2018
• Last Update Submitted That Met QC Criteria: August 27, 2018
• Last Verified: August 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Down Syndrome; Trisomy 18 Syndrome
• Other Study ID Numbers: PRO-100

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED