不同检测方法在羊水细胞性染色体嵌合产前诊断中的应用比较

Prenatal sex chromosome diagnosis of mosaic aminotic cell

目的比较不同产前羊水检测技术的性染色体检测结果,评估不同检测方法对检测结果的影响,指导临床工作中正确认识各项检测结果的临床意义。方法对羊水细胞行染色体核型分析提示为性染色体嵌合体的标本,进行分子生物学检测,比较不同检测方法提示的性染色体的结果。结果核型分析提示为性染色体嵌合体的22例孕妇的23例标本中,多重连接探针扩增技术(MLPA)检测了20例,染色体微阵列检测(CMA)检测了9例,荧光原位杂交技术(FISH)检测了4例,11例标本核型结果与分子生物学检测结果一致,12例标本核型结果与分子生物学检测结果不一致。结论经典的羊水细胞染色体核型分析技术作为传统认为的“金标准”在性染色体嵌合体的检测中,其检测结果并不准确,可能原有部分细胞的丢失或者优势生长,甚至异常细胞的分裂和异常细胞类型的获得,需要选择不同的技术组合,综合分析得出结论,以提供更准确的临床信息,指导产前诊断和临床咨询。

Objective:To compare the sex chromosome results of different prenatal detection technologies,to estimate the effects of the technologies to the final results,guide the doctors to realize the meaning of different results.Methods:As the karyotypes of the aminotic cells were mosaic,we applied molecular technologies to recheck the sex chromosome copies of the fetuses.Results:In the 23 fetuses,20 of them went through MLPA testing,9 of them went through CMA testing,4 of them went through FISH detection.The results of molecular analysis,11 fetuses were according with the karyotype results,12 fetuses were different.Conclusion:The traditional karyotype is not the top standard for sex chromosome diagnosis,for its loss original clones or gain extra clones.Before making the conclusion,as possible as more referable technologies should be proceeded.Precise results will help the doctors and the parents to get correct information about the fetuses and make appropriate decisions.