Pregnancy
Conditions
Brief summary
The purpose of this study is to collect whole blood samples from women with viable pregnancies of at least 10 weeks gestation (at any risk for fetal chromosomal anomaly) for future testing with an investigational noninvasive prenatal test(s) (NIPTs), and to establish clinical truth compared to a clinical reference standard.
Detailed description
This is a prospective, multi-center specimen collection study; each subject's treatment, management, or medical care will not be determined by the study protocol. Women 18 years of age or older with a viable pregnancy of at least 10 weeks gestation will be enrolled. A whole blood sample will be collected from each subject. Subjects will be followed until data or specimens used to establish the clinical reference standard are collected, and pregnancy outcome and birth information is collected (if applicable). If cytogenetic test results from standard-of-care procedures are not available and pregnancies end in live births, a neonatal buccal swab specimen will be collected. Maternal specimens will be processed to plasma and stored for future testing with an investigational NIPT(s). There will be no investigational NIPT results nor centralized CMA LDT results generated under this protocol. Cytogenetic results from standard-of-care procedures and microarray results will be used to classify the clinical status of subjects according to the clinical reference standard.
Interventions
None listed
Sponsors
Agility Clinical, Inc.
Illumina, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Has a viable pregnancy of at least 10 weeks, 0 days gestation at the time of maternal specimen collection (singleton or multiple pregnancy acceptable), * Be 18 years of age or older at enrollment, and * Is willing and able to provide documentation of informed consent.
Exclusion criteria
* Has a prior NIPT result from the current pregnancy, * Had an invasive prenatal diagnostic procedure (eg, CVS, amniocentesis) in the current pregnancy before maternal specimen collection, * Has a history of transplant or malignancy, * Had a transfusion of blood or blood components up to 8 weeks before maternal specimen collection, * Had preimplantation genetic screening for the current pregnancy (for in vitro fertilization patients only), or * Has already participated in the study (enrolled previously)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Absence of chromosomal aneuploidy | 12 months | Collect up to 2,200 maternal blood samples with the number of affected samples with chromosomal aneuploidy less than 0.5% based on clinical data from standard of care invasive procedure, neonate physical exam or chromosomal microarray result from the neonate buccal swab specimen. |
Countries
United States
Outcome results
None listed