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PRENATAL CYTOGENETIC DIAGNOSIS BY ARRAY-BASED COPY NUMBER ANALYSIS (MICROARRAY)

Principal Investigator:  Elizabeth Thom, Ph.D.

 
The Biostatistics Center serves as the coordinating center for this observational study designed to assess the utility of array-base copy number analysis (microarray) technology in comparison with conventional cytogenetic diagnosis in chorionic villus and amniotic fluid samples drawn for prenatal diagnosis of chromosomal abnormalities in the fetus. It is expected that microarray will detect all clinically useful abnormalities currently diagnosed by conventional cytogenetics, as well as less common but clinically significant syndromes. The study began in 2008 with plans to enroll 4,000 women who will undergo a prenatal diagnosis procedure. Their specimens will be tested at four specialized microarray laboratories with results compared to conventional cytogenetics laboratory results. Matched controls will be followed until the age of 2 years in order to assess the infants for potential physical anomalies and developmental delay.

This study is funded by a subcontract with Columbia University under a Grant awarded by NIH/NICHD R01-HD05565-01 (2007-2012).)