Copy Number Variations Clinical Trial
Official title:
Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings
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.
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. ;