Automated Screen for Fetal Aneuploidy

NCT03635359 | Unknown

• 1 other identifier: BCX 120
• Study Type: observational
• Target: 2,000
• Locations: 6 countries
• Sites: 6

Brief Summary

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.

Conditions

Trisomy 21 and Other Fetal Aneuploidy

Keywords

fetal; screening test; trisomy; aneuploidy; copy number variant

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

positive for fetal aneuploidy

Diagnostic Test: blood test

negative for fetal aneuploidy

Diagnostic Test: blood test

Interventions

blood test DIAGNOSTIC_TEST

analysis of cell-free DNA in maternal plasma

negative for fetal aneuploidy; positive for fetal aneuploidy

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• Subject is at least 18 years old and can provide informed consent;
• Subject has a viable singleton or twin pregnancy;
• Subject is confirmed to be at least 10 weeks, 0 days gestation at the time of the study blood draw;
• 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.
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• BioCeryx: lead
• Brugmann University Hospital: collaborator
• University of British Columbia: collaborator
• Royal Prince Alfred Hospital, Sydney, Australia: collaborator
• Hospital Universitario Virgen de la Arrixaca: collaborator
• Hospital CUF Descobertas, Lisbon, Portugal: collaborator
• University College London Hospitals: collaborator

Study Sites (6)

Royal Prince Alfred Hospital

Sydney, Australia

Location

University Hospital Brugmann

Brussels, Belgium

Location

University of British Columbia

Vancouver, Canada

Location

Hospital CUF Descobertas

Lisbon, Portugal

Location

Hospital Clínico Universitario Virgen de la Arrixaca

Murcia, Spain

Location

University College London Hospital

London, United Kingdom

Location

MeSH Terms

Conditions

Down Syndrome; Trisomy; Aneuploidy

Interventions

Hematologic Tests

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; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Chromosome Duplication

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Thomas J Musci, MD

  BioCeryx

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: August 14, 2018
• First Posted: August 17, 2018
• Study Start: July 15, 2017
• Primary Completion: March 31, 2019
• Study Completion: June 30, 2019
• Last Updated: August 17, 2018

Record last verified: 2018-08

Data Sharing

• IPD Sharing: Will not share

Locations

PT (1); BE (1); ES (1); GB (1); AU (1); CA (1)