[논문]유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과

김진영; 임천규; 송인옥; 유근재; 양광문; 한국선; 허걸; 송지홍; 전진현; 민동미; 박소연; 전종영; 궁미경; 강인수

유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과
Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease 원문보기

대한불임학회지 = Korean journal of fertility and sterility, v.29 no.4, 2002년, pp.269 - 278

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Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

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참고문헌 (28)

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유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과
Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease 원문보기

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유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과 Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease 원문보기

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김진영 (29) 임천규 (10) 송인옥 (14) 유근재 (7) 양광문 (10) 한국선 (1) 허걸 (5) 송지홍 (4) 전진현 (25) 전종영 (6) 궁미경 (31) 강인수 (34)

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유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과
Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease 원문보기