Non-Invasive Chromosomal Evaluation of Trisomy Study (NICHE)

Cindy Cisneros

Status: Completed

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

Study type: Observational

Funder types: Industry

Identifiers

NCT02201862

AD201

Details and patient eligibility

About

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.

Enrollment: 2,000 patients

Sex: Female

Ages: 18 to 60 years old

Volunteers: Accepts Healthy Volunteers

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 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.

Exclusion criteria

• 1. Subject 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;

Trial design

2,000 participants in 2 patient groups

Euploid Subjects

Description:

Subject's with fetal euploidy confirmed by chromosome analysis

Aneuploid Subjects

Description:

Subject's with fetal aneuploidy confirmed by chromosome analysis