摘要
目的探讨荧光原位杂交（fluorescent in situ hybridization，FIsH）技术在产前诊断中的应用价值。方法应用FISH对82例未培养的羊水细胞、2例培养成功的羊水细胞上清液及5例培养未成功的羊水细胞上清液进行染色体非整倍体检测，以其中79例未培养羊水细胞和2例培养成功羊水细胞的常规G显带核型分析结果作为对照。结果89例标本均成功杂交，共检出21-三体3例，超雄综合征1例，三倍体I例。羊水培养细胞核型分析结果与FISH检测结果一致。结论将FISH应用于染色体非整倍体的产前检测具有快速、直观的优点。FISH也可作为羊水标本未培养成功的补救诊断措施。
Objective To assess the value of fluorescent in situ hybridization （FISH） for detecting common chromosome aneuploidies in interphase nuclei of amniotic fluid cells. Methods Eighty two uncultured amniotic fluid samples and supernatants from two successfully and five unsuccessfully cultured amniotic fluid samples were analyzed with FISH. Results from standard cytogenetic analysis of 79 uncultured amniotic fluid samples and 2 successfully cultured amniotic fluid samples were compared with FISH results. Results All of the 89 samples were succeeded analyzed with FISH. Positive findings included 3 cases with trisomy 21, 1 case with 47,XYY and 1 case with 69,XXX, which were consistent with results of karyotype analysis. Conclusion FISH is a rapid and accurate method for prenatal diagnosis, and can also provide a remedy to failed amniotic fluid cells culture.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第2期214-217,共4页
Chinese Journal of Medical Genetics
关键词
荧光原位杂交
产前诊断
羊水细胞
Fluorescence in situ hybridization
Prenatal diagnosis
Amniotic fluid cells
