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目的探讨孕中期胎儿羊水细胞染色体的多态性与遗传效应的关系。方法对2787例高危孕妇进行羊膜腔穿刺行胎儿羊水细胞染色体核型分析,诊断为胎儿染色体多态性的父母随后接受外周血染色体检查。结果 2787例羊水细胞培养分析发现染色体多态核型106例,所有染色体多态性胎儿的父/母亲染色体的多态性与胎儿一致,且胎儿的父母表型均正常。结论染色体多态性的遗传效应尚不明显,其与胎儿的生长发育不一定有关,两者之间的关系有待于收集更多的样本资料,以及从分子水平进行进一步的研究。
Objective To investigate the relationship between genetic polymorphism of amniotic fluid cell chromosomes and genetic effect in the second trimester of pregnancy. Methods A total of 2787 high-risk pregnant women underwent amniocentesis for amniotic fluid cell chromosome karyotype analysis. Parents diagnosed with fetal chromosomal polymorphism subsequently underwent peripheral chromosomal examination. Results 2787 cases of amniotic fluid cell culture analysis found 106 cases of chromosome polymorphism karyotype, all chromosome polymorphisms of the fetus parent / mother chromosome polymorphism consistent with the fetus, and fetus parents phenotype are normal. Conclusion The genetic effect of chromosome polymorphism is not yet obvious. It is not necessarily related to the growth and development of the fetus. The relationship between the two needs to be collected more samples, and further study from the molecular level.