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目的采用羊水细胞培养作染色体核型分析,对妊娠中期高危孕妇作出产前诊断,防止染色体病患儿的出生。方法对我市2011年~2014年接受产前诊断的1131例孕妇的胎儿染色体结果进行回顾性分析。结果 1131例孕妇中,发现异常染色体核型18例(18/1131),占1.59%。其中21-三体综合征11例,18-三体综合征3例,45,X、第9染色体缺失、46,XN,rob(14;21)(q10;q10)、46,XN[45]/45,X[5]各1例。结论孕中期产前筛查/产前诊断技术可以有效地降低出生缺陷。
Objective To adopt amniotic fluid cell culture for chromosome karyotype analysis to make prenatal diagnosis of high-risk pregnant women in mid pregnancy and to prevent the birth of children with chromosome diseases. Methods Retrospective analysis was performed on the fetal chromosomal results of 1131 pregnant women receiving prenatal diagnosis from 2011 to 2014 in our city. Results Of 1131 pregnant women, 18 cases (18/1131) were found with abnormal karyotype, accounting for 1.59%. There were 11 cases of 21-trisomy syndrome, 3 cases of 18-trisomy syndrome, 45 cases of X, 45 cases of XN, rob (14; 21) / 45, X [5] in each case. Conclusion The prenatal screening / prenatal diagnosis during the second trimester can effectively reduce birth defects.