Aneuploidy, Down Syndrome, Trisomy 13, Trisomy 18, Trisomy 21
Conditions
Keywords
Aneuploidy, Down Syndrome, amniocentesis, chronic villus sampling, Trisomy, non-invasive prenatal testing, Chromosome disorders
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.
Interventions
None listed
Sponsors
Cindy Cisneros
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 60 Years
Healthy volunteers
Yes
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;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Detection of aneuploidy | 24 months |
Countries
United States
Outcome results
None listed