Wa. Hogge et al., MOLECULAR CYTOGENETICS - AN ESSENTIAL COMPONENT OF MODERN PRENATAL-DIAGNOSIS, American journal of obstetrics and gynecology, 175(2), 1996, pp. 352-356
Traditional cytogenetic studies with high-resolution banding technique
s have been the mainstay of prenatal diagnosis for >20 years. However,
this approach is limited by the resolution of light microscopy, and i
t requires cultured cells, necessitating a significant delay in obtain
ing chromosome studies. The advent of molecular cytogenetics, or fluor
escence in situ hybridization, has added an adjunctive tool to overcom
e both these limitations. During a 16-month period 35 prenatal diagnos
is cases had molecular cytogenetic studies performed; 71% of the evalu
ations were informative, We present five of these cases to illustrate
the benefits oi this technique for clinical prenatal diagnosis.