A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test

Illumina

Status: Completed

Conditions: Pregnancy

Study type: Observational

Funder types: Industry

Identifiers

NCT03620110

NIPT-C00-002

Details and patient eligibility

About

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.

Full 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.

Enrollment: 2,209 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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)