Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH)

형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인

  • Seol, Hye-Won (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Ko, Hee-Jung (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Song, Nam-Hee (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Kim, Sook-Ryoung (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Lee, Hwa-Jin (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Oh, Sun-Kyung (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University) ;
  • Park, Joong-Shin (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Jun, Jong-Kwan (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Yoon, Bo-Hyun (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Syn, Hee-Chul (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Moon, Shin-Yong (Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University)
  • 설혜원 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 고희정 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 송남희 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 김숙령 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 이화진 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 오선경 (서울대학교 의과대학 의학연구원 인구의학연구소) ;
  • 박중신 (서울대학교 의과대학 산부인과학교실) ;
  • 전종관 (서울대학교 의과대학 산부인과학교실) ;
  • 윤보현 (서울대학교 의과대학 산부인과학교실) ;
  • 신희철 (서울대학교 의과대학 산부인과학교실) ;
  • 문신용 (서울대학교 의과대학 의학연구원 인구의학연구소)
  • Published : 2003.09.30
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Abstract

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.

Keywords

References

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