Development of a NIPTT for Detecting Copy Number Variations

Overview

To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). The NIPT result will be compared to the test results obtained by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling.

Full Title of Study: “Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: April 30, 2018

Detailed Description

This is a single center specimen collection study. Eligible subjects from across the USA will be referred to the single center for participation. This study will evaluate whether the test methods being developed for the detection of fetal chromosomal abnormalities of interest in maternal whole blood samples can be used in clinical practice. Enrollment of study subjects will be done in two phases – an initial pilot study phase to collect samples for research and development activities, followed by a larger single-blinded sample collection phase for NIPT evaluation. For both phases, study subjects will be enrolled in a prospective manner until the predetermined sample size is attained. Each study subject will be asked to provide one 20mL blood sample.

Interventions

  • Device: MaterniT GENOME

Clinical Trial Outcome Measures

Primary Measures

  • Development of non-invasive pregnancy test (NIPT)
    • Time Frame: 5 years
    • NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling

Participating in This Clinical Trial

Inclusion Criteria

  • Subject is female – Subject is 18 years of age or older – Subject is pregnant at no less than 10 weeks and no more than 36 weeks gestation – Subject provides a signed and dated informed consent – Subject has a current pregnancy in which the fetus is determined to have a chormosomal abnormality of interest (microinsertions, microdeletions and other CNVs) as determined by microarray analysis of fetal cellular material obtained by IP Exclusion Criteria:

  • Subject has experienced fetal demise in the current pregnancy

Gender Eligibility: Female

Subjects must be pregnant

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Sequenom, Inc.
  • Collaborator
    • Columbia University
  • Provider of Information About this Clinical Study
    • Sponsor

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