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目的探讨荧光原位杂交技术(FISH)及染色体核型分析在产前诊断中的临床应用价值。方法抽取90例妇产科就诊孕妇的羊水进行体外培养并进行染色体核型分析,其中对45例羊水样本应用荧光原位杂交技术,直接对间期核细胞进行13、18、X、Y等染色体数目进行检测。结果 90例羊水样本有88例样本完成染色体核型分析,诊断成功的几率为97.78%,其中2例患者出现异常染色体核型的情况,占2.22%,报告的时间平均为(23.49±5.11)d。在应用荧光原位杂交技术的45例样本中,诊断成功的几率为100.00%,其中有8例患者出现异常染色体核型的情况,占8.89%,其中,结构异常5例,数目异常3例。另外,在染色体数目的诊断上,荧光原位杂交技术与染色体核型分析的诊断结果一致,平均报告的时间为(2.78±4.13)d。结论荧光原位杂交技术应用于产前诊断中具有成功率、准确性高的特点,能够有效缩短报告的时间,但是对于某些情况特殊的患者来说,单纯地使用荧光原位杂交技术则有可能造成漏诊的现象发生,因此荧光原位杂交技术并不能完全取代染色体核型分析技术,在必要时需要同时使用两种技术。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) and karyotype analysis in prenatal diagnosis. Methods Ninety cases of amniotic fluid from obstetrics and gynecology were enrolled in this study. Chromosome karyotype analysis was performed in 45 cases of amniotic fluid samples. Fluorescence in situ hybridization (FISH) technique was used to directly detect the interphase nuclei such as 13, 18, X and Y chromosomes The number of testing. Results Eighty eight samples from 90 samples of amniotic fluid were analyzed for karyotype analysis. The probability of successful diagnosis was 97.78%, of which 2 cases had abnormal karyotype, accounting for 2.22%. The mean time to report was (23.49 ± 5.11) d . In 45 cases using fluorescence in situ hybridization, the probability of successful diagnosis was 100.00%, of which 8 cases had abnormal chromosome karyotype, accounting for 8.89%, among which 5 cases were abnormal in structure and 3 cases were abnormal in number. In addition, the diagnosis of chromosome number, fluorescence in situ hybridization and chromosome karyotype analysis of diagnostic results, the average reporting time was (2.78 ± 4.13) d. Conclusion The fluorescence in situ hybridization (FISH) technique has the advantages of high success rate and high accuracy in prenatal diagnosis, which can shorten the reporting time effectively. However, in some special cases, fluorescence in situ hybridization Which may result in missed diagnosis. Therefore, fluorescence in situ hybridization does not completely replace the chromosome karyotyping technique and requires the simultaneous use of two techniques when necessary.