Chromosome aberrations detectable by conventional cytogenetics are a common cause of missed abortions and intrauterine fetal demise. However, chromosome analysis of products of conception (POC) may be unsuccessful or uninformative due to maternal cell contamination (MCC) and reduced viability of fetal cells in culture. Chromosomal microarray (CMA) may circumvent such issues, as it does not require culturing; in addition, MCC studies may be performed on extracted DNA prior to running the array. If those data indicate significant MCC, testing may be cancelled to avoid incurring the expense for a likely false negative result. A retrospective review of data from 484 cases submitted to Baylor Genetics for targeted chromosomal microarray analysis (CMA) following a stillbirth or a spontaneous loss of pregnancy was undertaken to assess clinical utility and determine best practices.
