目的就产前诊断为标记染色体的胎儿,分析标记染色体与胎儿表型的关系。方法对5320例产前诊断的羊水,脐带血样本行G显带染色体核型分析。结果检出3例新发标记染色体,其中两例嵌合型,且胎儿均伴有不同程度的畸形。结论细胞遗传学对标记染色体进行检测,结合来源分析,以提供有效的产前诊断信息。 Objective To analyze the relationship between the marker chromosome and fetal phenotype on the prenatal diagnosis of fetal chromosomes. Methods 5320 cases of prenatal diagnosis of amniotic fluid and cord blood samples were G-banding karyotype analysis. Results Three new chromosomes were detected, of which two were chimeric, and the fetus were associated with varying degrees of deformity. Conclusions Cytogenetics detects marker chromosomes and combines source analysis to provide valid information on prenatal diagnosis.