Non-Invasive Chromosomal Evaluation of Trisomy Study

NCT02201862 | Completed

• 1 other identifier: AD201
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 3

Brief Summary

This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.

Conditions

Aneuploidy; Trisomy 21; Trisomy 18; Trisomy 13; Down Syndrome

Keywords

Aneuploidy; Down Syndrome; amniocentesis; chronic villus sampling; Trisomy; non-invasive prenatal testing; Chromosome disorders

Outcome Measures

Primary Outcomes (1)

• Detection of aneuploidy

  24 months

Study Arms (2)

Euploid Subjects

Subject's with fetal euploidy confirmed by chromosome analysis

Aneuploid Subjects

Subject's with fetal aneuploidy confirmed by chromosome analysis

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant women planning to undergo chorionic villus sampling (CVS) and/or amniocentesis for the purpose of genetic evaluation of the fetus.

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 CVS and/or amniocentesis for the purpose of genetic analysis of the fetus OR the subject has already undergone CVS and/or amniocentesis and is known to have a fetus with a chromosomal abnormality confirmed by genetic analysis.

You may not qualify if:

• \. Subject 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

• Cindy Cisneros: lead

Study Sites (3)

University California San Diego

San Diego, California, United States

Location

Women's Healthcare Group of PA

Oaks, Pennsylvania, 19456, United States

Location

Regional Obestrical Consultants

Chattanooga, Tennessee, 37403, United States

Location

Related Publications (1)

• Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1.

  PMID: 22742782 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Plasma

MeSH Terms

Conditions

Aneuploidy; Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Trisomy; Chromosome Disorders

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Chromosome Duplication

Study Design

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

Study Record Dates

• First Submitted: July 22, 2014
• First Posted: July 28, 2014
• Study Start: April 1, 2014
• Primary Completion: August 1, 2019
• Study Completion: August 1, 2019
• Last Updated: April 30, 2020

Record last verified: 2020-04

Locations

US (3)