Journal of Genetic Medicine

  • 제4권1호
  • /
  • Pages.64-71
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  • 2007
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
권호 표지

FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases

  • 강진희 (포천중문의과대학교 강남차병원 산부인과) ;
  • 이숙환 (포천중문의과대학교 강남차병원 산부인과) ;
  • 박상희 ;
  • 박지현 ;
  • 김지연 (포천중문의과대학교 강남차병원 산부인과) ;
  • 한원보 (포천중문의과대학교 강남차병원 산부인과) ;
  • 김인현 (포천중문의과대학교 강남차병원 산부인과) ;
  • 박상원 (포천중문의과대학교 강남차병원 산부인과) ;
  • 장진범 (포천중문의과대학교 강남차병원 산부인과) ;
  • 이경진 (포천중문의과대학교 강남차병원 산부인과) ;
  • 박희진 (포천중문의과대학교 강남차병원 산부인과) ;
  • 전혜선 (포천중문의과대학교 강남차병원 산부인과) ;
  • 이경주 (포천중문의과대학교 강남차병원 산부인과) ;
  • 신중식 (포천중문의과대학교 강남차병원 산부인과) ;
  • 차동현 (포천중문의과대학교 강남차병원 산부인과)
  • Kang, Jin-Hee (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Lee, Sook-Hwan (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Park, Sang-Hee (The Human Genetic Center, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Park, Ji-Hyun (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Pundang CHA general hospital) ;
  • Kim, Ji-Youn (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Han, Won-Bo (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Kim, In-Hyun (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Park, Sang-Won (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Jang, Jin-Beum (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Lee, Kyoung-Jin (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Park, Hee-Jin (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Jun, Hye-Sun (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Lee, Kyung-Ju (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Shin, Joong-Sik (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital) ;
  • Cha, Dong-Hyun (Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, CHA General Hospital)
  • 발행 : 2007.03.01
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초록

목 적 : 다운증후군과 에드워드증후군의 빠른 진단에 있어 FISH 검사의 임상적 유용성과 한계성을 보고하고자 한다. 방 법 : 유전질환이 의심되는 고위험임신 309예에서 양수 검사를 통해 미배양 양수세포에서 18번과 21번 염색체의 probes를 이용한 FISH 검사를 시행하고 이들의 결과를 염색체 핵형분석 결과와 비교하였다. 결 과 : 평균연령은 34.18세, 평균임신주수는 18주(126.12 일)의 309예에서 FISH 검사는 모두 성공하였다. 각각 1예씩의 다운증후군과 에드워드증후군이 FISH로 신속한 진단이 가능했으며 이들은 염색체 핵형 검사에서 확인하였다. 그러나 18번과 21번 이외의 염색체의 이수성과 구조적 이상은 발견하지 못했는데 모두 12예(3.9%)로 상당부분을 차지했다. 앞으로 산전 선별검사에 있어 FISH검사과정의 자동화 기계화로 더 시간을 단축하고 가격을 낮추는 방안이 계속 개발되어야 할 것이다.

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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