1984例胎儿羊水染色体检查的结果分析

Karyotype Analysis of Amniotic Fluid in 1984 Cases

目的：探讨染色体数目或结构畸变与胎儿异常之间的关系。方法：1 984例产前筛查高危的妇女,在知情同意下,于孕17-23周进行羊水穿刺、细胞培养及染色体制备、G显带核型分析。结果：1 984例羊水染色体检查中共发现异常核型49例（2.47%）,包括数目异常31例（1.56%）,其中常染色体数目异常27例,性染色体数目异常4例;结构异常12例（0.60%）,其中9例平衡性结构异常,3例非平衡性结构异常;嵌合体6例（0.30%）。多态变异226例（11.39%）,包括9号臂间倒位20例（1.01%）,D/G组随体及短臂多态变异78例（3.93%）,次缢痕区多态变异72例（3.63%）,大Y、小Y 56例（2.82%）。结论：羊水染色体核型检查有助于产前诊断胎儿染色体病,对妊娠结局的评估和胎儿的预后评价具有积极的意义。

Objective： To analyze retrospectively the karyotypes of amniotic fluid, and to study the relationship between the distortion of chromosome number or structure and fetal abnormalities. Methods： 1 984 pregnant women with the high risks under prenatal screening were asked to test the karyotypes of amniotic fluid in their pregnant weeks of 17 to 23, with the informed consent. Results：In 1 984 cases, there were 49 cases （2.47%） with abnormal karyotypes, including 31 cases （1.56%） with the number abnormalities （27 cases with autosome number distortion and 4 cases with sex chromosome number distortion）, 12 cases （0.60%） with the structural abnormalities （9 cases with the chromosome balanced translocation and 3 cases with unbalanced translocation） and 6 cases （0.30%） with chimera. There were 226 cases （11.39%） with the chromosomal polymorphism mutation, including 20 cases （1.01%） with 9 chromosome percentric inversion, 78 cases （3.93%） with the satellite and petit polymorphism mutation of D/G group chromosome, 72 cases （3.63%） with the secondary constriction polymorphism mutation and 56 cases （2.82%） with big or small Y chromosome. Conelusions：Karyotype examination of amniotic fluid is very important for the diagnosis of fetal chromosomal diseases, especially for those pregnant women with the high risks under prenatal screening. Besides, it is helpful to evaluate the pregnancy outcomes and fetal genetic health.