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

Prospective Collection of Whole Blood Specimens From Pregnant Women at Any Risk of Fetal Chromosomal Anomaly for the Development of a Noninvasive Prenatal Test

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.

Study Overview

• Status: Completed
• Conditions: Pregnancy

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.

• Study Type: Observational
• Enrollment (Actual): 2209

Contacts and Locations

Study Locations

• United States
  • Arizona
    • Phoenix, Arizona, United States, 85004
      • Valley Perinatal Services
  • Maryland
    • Hagerstown, Maryland, United States, 21740
      • Unified Women's Clinical Research - Hagerstown
  • North Carolina
    • Greensboro, North Carolina, United States, 27408
      • United Women's Clinical Research-Greensboro
    • Morehead City, North Carolina, United States, 28557
      • Unified Women's Clinical Research - Morehead City
    • Raleigh, North Carolina, United States, 27607
      • Unified Women's Clinical Research - Raleigh
    • Winston-Salem, North Carolina, United States, 27103
      • Unified Women's Clinical Research - Lyndhurst Clinical Research
  • Tennessee
    • Jackson, Tennessee, United States, 38305
      • Jackson Clinic
  • Virginia
    • Norfolk, Virginia, United States, 23502
      • The Group for Women

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Women 18 years of age or older, at any risk of fetal chromosomal anomaly, with a viable pregnancy of at least 10 weeks gestation

Description

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)

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Absence of chromosomal aneuploidy	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.	12 months

Collaborators and Investigators

• Sponsor: Illumina, Inc.
• Collaborators: Agility Clinical, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): May 21, 2018
• Primary Completion (Actual): December 30, 2019
• Study Completion (Actual): December 30, 2019

Study Registration Dates

• First Submitted: July 6, 2018
• First Submitted That Met QC Criteria: August 2, 2018
• First Posted (Actual): August 8, 2018

Study Record Updates

• Last Update Posted (Actual): January 14, 2020
• Last Update Submitted That Met QC Criteria: January 10, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Other Study ID Numbers: NIPT-C00-002

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No