19 December 1996
Last week, a child was born and lived for about an hour. There were several, severe anomalies but no diagnosis was made. Before the autopsy, liver and spleen specimens were sent to my lab for DNA Extraction and Banking (at the request and with permission of the parents). The liver DNA was badly degraded but the spleen DNA is excellent and we have over 600 micrograms of it. Cytogenetics was also requested but no cells grew. The attending suspects Trisomy 18 or 13 and would like to have a diagnosis in this case. Now that cytogenetics is not possible, does anyone out there know of a lab that can do trisomy analysis on a DNA specimen? Seems like it would take some pretty finely tuned quantitation with chromosome specific probes, perhaps by Southern blotting with an internal control. Anyone's help would be greatly appreciated. Thanks.