Non-Invasive Screening for Fetal Aneuploidy

NCT02317965 | Unknown

• 1 other identifier: PRO-100
• Study Type: observational
• Target: 340
• Locations: 1 country
• Sites: 10

Brief Summary

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

Conditions

Down Syndrome; Edwards Syndrome

Outcome Measures

Primary Outcomes (1)

• 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.

Study Arms (1)

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

Interventions

Maternal Blood Draw OTHER

Maternal Blood Draw

Pregnant Women

Eligibility Criteria

• Age: 18 Years - 54 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Progenity, Inc.: lead
• Obstetrix Medical Group: collaborator

Study Sites (10)

Obstetrix Medical Group of California

Campbell, California, 92708, United States

Location

Long Beach Memorial Medical Ctr - 2nd Floor Perinatal

Long Beach, California, 90806, United States

Location

OBX Med. Group. of Colorado - Pres/St Luke's Clinic

Denver, Colorado, 80205, United States

Location

OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center

Denver, Colorado, 80220, United States

Location

OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.

Englewood, Colorado, 80113, United States

Location

OBX Med. Group. of Colorado - Skyridge

Lone Tree, Colorado, 80124, United States

Location

Regional Obstetrical Consultants

Chattanooga, Tennessee, 37403, United States

Location

Obstetrix Medical Group of Texas

Fort Worth, Texas, 76104, United States

Location

Obstetrix Medical Group of Houston

The Woodlands, Texas, 77380, United States

Location

Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center

Seattle, Washington, 98122, United States

Location

Related Publications (1)

• 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.

  PMID: 31510865 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

plasma, PBMCs

MeSH Terms

Conditions

Down Syndrome; Trisomy 18 Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases

Study Officials

• Richard Porreco, MD

  Obstetrix Medical Group of Colorado

  PRINCIPAL INVESTIGATOR

• Thomas Garite, MD

  Obstetrix Medical Group

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 9, 2014
• First Posted: December 17, 2014
• Study Start: March 1, 2015
• Primary Completion: November 1, 2018
• Study Completion: November 1, 2018
• Last Updated: August 28, 2018

Record last verified: 2018-08

Locations

US (10)