Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

ABSTRACT: Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)-sponsored multicentered trial to assess the role of CMA as a primary prenatal diagnostic tool has been completed, and results will soon be available. Integration of this technology into clinical care will require thoughtful changes in patient counseling. Here, we examine four cases, all ascertained in the NICHD prenatal microarray study, to illustrate the challenges and subtleties of genetic counseling required with prenatal CMA testing. Although the specif

SUBMITTER: Wapner RJ 

PROVIDER: S-EPMC4251739 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature