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대한생식의학회지 제30권 제3호 2010년
형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인
서울대학교 의과대학 의학연구원 인구의학연구소
설혜원, 고희정,송남희,김숙령,이화진,오선경,박중신,전종관,윤보현,신희철,문신용
Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH)
Seol HW
Institute of Reproductive Medicine and Population, Medical Research Center
Objective: 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.
키워드 : Prenatal genetic diagnosis, Aneuploidy, FISH
교신저자 : shmoon@snu.ac.kr
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