FALSE-NEGATIVE CYTOGENETIC RESULTS FOLLOWING AMNIOCENTESIS

We report 2 cases where prenatal cytogenetic studies following amnioce ntesis yielded false negative results, Both mothers requested terminat ion of pregnancy but were reassured by the normal chromosome analysis and therefore continued their pregnancies. When cytogenetic studies we re repeated in the neonatal period, they demonstrated chromosomal abno rmalities, which were confirmed when the initial specimens from amnioc entesis were reviewed, Because of our findings, we suggest that if pre natal chromosome analysis is reported as normal, where there is a high index of suspicion of a chromosome abnormality, the result should be questioned and neonatal chromosome analysis undertaken.