摘要
目的 探讨荧光原位杂交 (FISH)技术在产前诊断中的应用价值。方法 采用 13、18、2 1、X和Y染色体特异性DNA探针 ,对 114例孕 15～ 37w孕妇的羊水间期核进行FISH检测 ,同时行常规羊水细胞核型分析。结果 与羊水细胞核型分析相符的染色体正常 111例 ,异常 3例 ,( 4 7,XX +2 1、4 7,XY +2 1和 4 6 ,XX ,- 2 1,+t( 2 1;2 1) ;另有 1例核型为 4 6 ,XY ,t( 15 ;18) (q2 6 ;q2 2 ) ,FISH信号显示正常。 3例数目异常胎儿引产时抽脐血染色体检查结果与产前诊断一致。结论 FISH技术用于产前诊断常见染色体数目异常 ,具有简便、快速、特异性强等优点 ,但有一定的局限性。
Objective: To investigate the clinical value of fluorescent in situ hybrdization(FISH) during prenatal diagnosing. Methods: The interphase nuclei of amniotic fluid from 114 pregnant women with 15～37 gestational weeks were detected by chromose-specific DNA probes of 13,18,21,X and Y chromosomes. The routine analyis of amniotic cells karyotypes was also performed at same time. Results: Normal chromosome karyotypes were shown in 111 cases and chromosome abnormality was and found in 3 cases, which were 47,XX,+21、47,XY,+21 and 46,XX,-21,+t(21;21),respectively, by FISH technique. These results were consistent with those obtained by routine analysis of amniotic cell chromosome karyotypes. The chromosome karyotype of 46,XY,t(15;18)(q26;q22)was found in another case, whose FISH signal showed normal. Conclusion: FISH technique for prenatal diagnosis showed simple, rapid and high specific characters etc, but there was some limits. Fish technique should combined with routine analysis of chromosome karyotype when more reliable information was provided for the clinical diagnosis.
出处
《中国优生与遗传杂志》
2004年第5期38-39,F002,共3页
Chinese Journal of Birth Health & Heredity
关键词
荧光原位杂交
染色体异常
产前诊断
羊水
Fluorescence in situ hybridization
Chromosome abnormalities
Prenatal diagnosis
Amniotic fluid
