RAPID PRENATAL-DIAGNOSIS OF PATAUS-SYNDROME IN A FETUS WITH AN ABDOMINAL-WALL DEFECT BY 72 HOUR CULTURE OF CELLS FROM AMNIOTIC-FLUID

A woman in the 32nd week of pregnancy was referred for investigation b ecause of fetal abnormalities, including an abdominal wall defect, det ected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture mediu m and incubated for 72 h. Slides with a high mitotic index and good qu ality metaphases, comparable to those from a blood culture, were obtai ned after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY, - 14, + t(13q14q), which is consistent with Patau's syndrome. T his technique appears to be an option for rapid karyotyping in cases o f abdominal wall defect, where a chromosomal abnormality is suspected.