Role of amniotic fluid cytogenetic analysis in the evaluation of recent fetal death

Chromosome abnormalities may be present in approximately 10% of cases of fetal death. Because of cell maceration and autolysis, the likelihood of successful karyotype analysis of fetal tissue varies inversely with the time between fetal death and delivery. In an attempt to reduce the influence of these postmortem changes, we obtained amniotic fluid cells for cytogenetic studies from 12 fetuses as soon as possible after the diagnosis of fetal death was confirmed. We also obtained fetal tissue for cell culture in ten of the cases immediately following evacuation of the uterus. Cell culture was successful in 11 of 12 amniotic fluid specimens and in only one of ten fetal tissue specimens (p less than 0.001). Since the results of cytogenetic studies are of such importance in counseling patients regarding recurrence risk for fetal death, we recommend that amniotic fluid cells be obtained for karyotype analysis at the time of diagnosis of fetal death rather than awaiting delivery of a potentially macerated and autolyzed fetus.