Clinical trial NCT02317965: 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.
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Down Syndrome
Edwards Syndrome
Lead sponsor: Progenity, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Obstetrix Medical Group
First posted: 2014-12-17
Enrollment: 340
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 54
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Primary outcomes:
measure: Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis
timeFrame: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.
Secondary outcomes:
Other outcomes:
Locations:
city: Campbell
country: United States
facility: Obstetrix Medical Group of California
state: California
city: Long Beach
country: United States
facility: Long Beach Memorial Medical Ctr - 2nd Floor Perinatal
state: California
city: Denver
country: United States
facility: OBX Med. Group. of Colorado - Pres/St Luke's Clinic
state: Colorado
city: Denver
country: United States
facility: OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center
state: Colorado
city: Englewood
country: United States
facility: OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.
state: Colorado
city: Lone Tree
country: United States
facility: OBX Med. Group. of Colorado - Skyridge
state: Colorado
city: Chattanooga
country: United States
facility: Regional Obstetrical Consultants
state: Tennessee
city: Fort Worth
country: United States
facility: Obstetrix Medical Group of Texas
state: Texas
city: The Woodlands
country: United States
facility: Obstetrix Medical Group of Houston
state: Texas
city: Seattle
country: United States
facility: Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center
state: Washington
Study officials:
affiliation: Obstetrix Medical Group of Colorado
name: Richard Porreco, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Obstetrix Medical Group
name: Thomas Garite, MD
role: STUDY_DIRECTOR
References:
citation: 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.