摘要目的 对珠海市7 452例胎儿进行染色体核型分析,探讨妊娠期胎儿染色体核型分析在珠海市出生缺陷预防中的意义.方法 选择妊娠10~36周存在产前诊断指征的单胎妊娠孕妇7 452例,根据孕周进行绒毛活检术、羊膜腔穿刺术、脐静脉穿刺术,抽取绒毛、羊水、脐血并进行细胞培养及染色体核型分析.结果 7452例胎儿染色体核型分析中共检出异常核型416例,异常检出率为5.58%.其中数目异常203例(2.72%,203/7452),结构异常210例(2.82%,210/7452).引产210例,占总数的2.82%,引产胎儿中染色体数目异常203例,占总引产胎儿的96.7%.结论 胎儿染色体核型分析能有效避免严重染色体病患儿出生,在珠海市出生缺陷预防中有重要意义.

abstractsObjective To investigate the significance of fetal chromosomal karyotype analysis in the prevention of birth defects in Zhuhai city.Methods There were 7452 cases of singleton pregnant women with indications of prenatal diagnosis in 10-36 weeks of pregnancy. Chorionic biopsy, amniotic cavity puncture and umbilical vein puncture were performed in different gestational weeks. The chorionic villi, amniotic fluid, umbilical cord blood were obtained and the cell culture and karyotype analysis were performed.Results Karyotype analysis was performed in 7452 cases, a total of 416 cases of abnormal karyotype, abnormal detection rate was 5.58%. Among them, 203 cases (2.72%, 203/7452) with abnormal chromosome numbers, 210 cases (2.82%, 210/7452) with abnormal chromosome structure. Fetal labor in 210 cases, accounting for 2.82%. Abnormal chromosome number in 203 cases, accounting for 96.7% of the total induced labor.Conclusions Fetal karyotype analysis can effectively avoid the birth of children with severe chromosomal disease, and it has great significance in the prevention of birth defects in Zhuhai City.