应用MLPA分析技术快速产前诊断21-三体综合征

Study on application use of multiplex ligation-dependent probe amplification in rapid prenatal diagnosis of trisomy 21

目的探讨应用MLPA技术快速产前诊断21一三体综合征的可行性。方法对181例羊水样本进行MLPA实验及羊水细胞染色体G显带核型分析，将MLPA实验结果与染色体核型分析结果进行比较。结果180例羊水样本均应用MLPA技术一次检测成功，1例样本因DNA浓度问题需二次检测，羊水标本MLPA检测的24h检出率达到99．4％。从样本中检测出4例染色体异常（3例2l一三体，1例X单体），检测结果与羊水细胞培养染色体G显带核型分析结果一致。结论羊水MLPA分析技术可用于快速产前诊断21-三体综合征。

Objective To evaluate the effectiveness of existing multiplex ligation-dependent probe amplification （MLPA） as a method of rapid prenatal diagnosis for trisomy 21. Methods 181 cases of amniotic fluid samples were detected for chromosome aneuploidies by MLPA. The experimental results were compared with those of G-banding karyotype analysis. Results 181 cases of samples were detected by MLPA, among which 177 cases of normal samples and 4 cases of chromosome aneuploidies were found, including 3 cases of trisomy 21, 1 case of X-monomer. This result was consistent with the result of G-banding karyotype analysis. Detection results of MLPA achieved 99.4% in 24 hours. Conclusion As a rapid prenatal diagnosis technology for trisomy 21, MLPA has good specificity and application value.