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: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: April 30, 2018
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.
- Device: MaterniT GENOME
Clinical Trial Outcome 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
- 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
- Lead Sponsor
- Sequenom, Inc.
- Columbia University
- Provider of Information About this Clinical Study
Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.