Application of FISH(Fluorescence In Situ Hybridization) in uncultured chorionic villus cells

Chang, Eun Ju; Hwang, Do Yeong; Choi, Hyeh Sook; Cheong, Kyung Soon; Kim, Ki Chul; Choe, Jin; Choi, Young Min; Moon, Shin Yong

Abstract

OBJECTIVE
The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases.
METHODS
According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies.
RESULTS
We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC.
CONCLUSION
We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.