Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens
Cytogenetics, single-nucleotide polymorphisms, and array comparative genomic hybridization/short-tandem repeat markers are all acceptable options for detecting chromosome imbalances in miscarriage specimens. We detected an unexpected high rate of mosaicism.
Volume 107, Issue 4, Pages 1028–1033
Meera Sridhar Shah, M.D., Cengiz Cinnioglu, Ph.D., Melissa Maisenbacher, M.S., C.G.C., Ioanna Comstock, M.D., Jonathan Kort, M.D., Ruth Bunker Lathi, M.D.
This study demonstrates the many technical limitations of the three testing modalities. Our rates of maternal cell contamination were low, but it is important to note that this is a commonly reported limitation of cytogenetics. Given the similar overall performance of the three testing modalities, providers may choose a method based on individual availability and consideration of limitations as it applies to each clinical scenario. The unexpected high rate of placental mosaicism warrants further investigation.