Molecular cytogenetics: An essential component of modern prenatal diagnosis, ,

Traditional cytogenetic studies with high-resolution banding techniques have been the mainstay of prenatal diagnosis for >20 years. However, this approach is limited by the resolution of light microscopy, and it requires cultured cells, necessitating a significant delay in obtaining chromosome studies. The advent of molecular cytogenetics, or fluorescence in situ hybridization, has added an adjunctive tool to overcome both these limitations. During a 16-month period 35 prenatal diagnosis cases had molecular cytogenetic studies performed; 71% of the evaluations were informative. We present five of these cases to illustrate the benefits of this technique for clinical prenatal diagnosis. (Am J Obstet Gynecol 1996;175:352-7.)