Automated Screen for Fetal Aneuploidy (FAST1)

Fluidic Automated Screening for Trisomy Study I

The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.

Study Overview

• Status: Unknown
• Conditions: Trisomy 21 and Other Fetal Aneuploidy
• Intervention / Treatment: Diagnostic test: blood test

• Study Type: Observational
• Enrollment (Anticipated): 2000

Contacts and Locations

Study Locations

• Australia
  • Sydney, Australia
    • Royal Prince Alfred Hospital
• Belgium
  • Brussels, Belgium
    • University Hospital Brugmann
• Canada
  • Vancouver, Canada
    • University of British Columbia
• Portugal
  • Lisbon, Portugal
    • Hospital Cuf Descobertas
• Spain
  • Murcia, Spain
    • Hospital Clinico Universitario Virgen de la Arrixaca
• United Kingdom
  • London, United Kingdom
    • University College London Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Pregnant with singleton or twin pregnancy and having and indicated physician prescribed prenatal diagnostic procedure.

Description

Inclusion Criteria:

1. Subject is at least 18 years old and can provide informed consent;
2. Subject has a viable singleton or twin pregnancy;
3. Subject is confirmed to be at least 10 weeks, 0 days gestation at the time of the study blood draw;
4. Subject is planning to undergo chorionic villus sampling and/or amniocentesis for the purpose of genetic analysis of the fetus because of a suspected fetal chromosomal anomaly based on cell-free DNA test results, standard serum screening result, or fetal ultrasound abnormality.
5. OR the subject has already undergone chorionic villus sampling and/or amniocentesis and is known to have a fetus with a chromosomal abnormality confirmed by genetic analysis.

Exclusion Criteria:

1. Subject (the mother) has known aneuploidy;
2. Subject is pregnant with more than two fetuses or has had sonographic evidence of three or more gestational sacs at any time during pregnancy;
3. Subject has a fetal demise (including natural or elective reduction) identified prior to consent;
4. Subject has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
positive for fetal aneuploidy	Diagnostic test: blood test; analysis of cell-free DNA in maternal plasma
negative for fetal aneuploidy	Diagnostic test: blood test; analysis of cell-free DNA in maternal plasma

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of blood test to fetal karyotype	Maternal plasma cell-free DNA will be analyzed to determine copy number of specific chromosomes and compared to the fetal karyotype as obtained through invasive diagnostic testing of the fetus.	21 months

Collaborators and Investigators

• Sponsor: BioCeryx
• Collaborators: University of British Columbia; University College London Hospitals; Brugmann University Hospital; Hospital Universitario Virgen de la Arrixaca; Royal Prince Alfred Hospital, Sydney, Australia; Hospital CUF Descobertas, Lisbon, Portugal
• Investigators: Principal Investigator: Thomas J Musci, MD, BioCeryx

Study record dates

Study Major Dates

• Study Start (ACTUAL): July 15, 2017
• Primary Completion (ANTICIPATED): March 31, 2019
• Study Completion (ANTICIPATED): June 30, 2019

Study Registration Dates

• First Submitted: August 14, 2018
• First Submitted That Met QC Criteria: August 14, 2018
• First Posted (ACTUAL): August 17, 2018

Study Record Updates

• Last Update Posted (ACTUAL): August 17, 2018
• Last Update Submitted That Met QC Criteria: August 14, 2018
• Last Verified: August 1, 2018

More Information

Terms related to this study

• Keywords: fetal; aneuploidy; screening test; trisomy; copy number variant
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Chromosome Duplication; Down Syndrome; Aneuploidy; Trisomy
• Other Study ID Numbers: BCX 120

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No