Cytogenetic evaluation of fetal death: the role of amniocentesis

Abstract

Fetal death can be associated with chromosomal abnormalities. Because of the degree of tissue maceration and autolysis seen in stillborn fetuses, it is often impossible to successfully culture these tissues for cytogenetic studies. We performed genetic amniocentesis in four cases of fetal death and were successful in obtaining cytogenetic results in all four, whereas the culture of fetal tissues for cytogenetics was successful in only one case. Chromosomal abnormalities were found in three of the four cases, including two fetuses with Down's syndrome and one fetus with Turner's syndrome. Because of the importance of cytogenetic studies in most cases of fetal death, we recommend amniocentesis at the time of diagnosis rather than waiting for delivery of fetal tissues, when postmortem changes may make it impossible to successfully culture fetal cells.