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Korean Journal of Fertility and Sterility 2003;30(3):223-232.
Published online September 1, 2003.
Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH).
Hye Won Seol, Hee Jung Ko, Nam Hee Song, Sook Ryoung Kim, Hwa Jin Lee, Sun Kyung Oh, Joong Shin Park, Jong Kwan Jun, Bo Hyun Yoon, Hee Chul Syn, Shin Yong Moon
1Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University, Seoul, Korea.
2Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea.
The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. METHODS: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. RESULTS: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. CONCLUSION: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.
Key Words: Prenatal genetic diagnosis; Aneuploidy; FISH
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