Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 10/2012; Chapter 8:Unit8.3. DOI: 10.1002/0471142905.hg0803s75
Source: PubMed


Chorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus core are released by this procedure and the fibroblasts are actively proliferative in tissue culture. Cultures can be used for cytogenetic analysis after ∼1 week. Slides prepared by this technique can be stained using trypsin-Giemsa banding and analyzed for chromosomal abnormalities in fetal tissue. Chorionic villi may also be assessed by chromosomal microarray analysis (CMA). For this purpose, a method for extraction of high-quality DNA from CVS tissue is also described here. Curr. Protoc. Hum. Genet. 75:8.3.1-8.3.9. © 2012 by John Wiley & Sons, Inc.

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    ABSTRACT: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.
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