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目的:通过对孕妇羊水细胞的染色体核型分析,探讨羊水细胞培养染色体核型分析在产前诊断及其相关遗传咨询中的意义,了解异常核型出现的频率、类型及与产前诊断指征的关系。方法:对有产前诊断指征的107例妊娠16~24周的孕妇在超声引导下经腹进行羊膜腔穿刺术,取羊水细胞进行培养,分析胎儿染色体核型。结果:107例胎儿染色体核型中,发现异常核型13例,异常检出率为12.1%(13/107),其中三体型6例,占46.2%(6/13),包括21-三体2例,18-三体2例,13-三体2例;平衡易位和倒位3例,占23.1%(3/13);嵌合体4例,占30.8%(4/13)。结论:胎儿羊水细胞染色体核型分析是诊断胎儿是否患有染色体病的常用产前诊断方法,具有诊断正确、安全、可靠的优点。对高危孕妇进行产前诊断是进行出生缺陷干预工作不可缺少的一部分,对防止畸形胎儿的出生具有一定的临床意义。
OBJECTIVE: To investigate the significance of karyotype analysis of amniotic fluid cell culture in prenatal diagnosis and related genetic counseling by analyzing the karyotypes of amniotic fluid cells in pregnant women, to find out the frequency and types of abnormal karyotypes and the correlation with prenatal diagnosis indications Relationship. Methods: 107 pregnant women with gestational age from 16 to 24 weeks who had prenatal diagnosis indications were transabdominal guided amniocentesis by amniocentesis, amniotic fluid cells were cultured and analyzed for fetal karyotype. Results: Of the 107 fetal karyotypes, 13 cases were found abnormal karyotype, the rate of abnormal detection was 12.1% (13/107), of which 6 cases were trisomy (46.2%), including 21- trisomy 2 cases, 18 cases of trisomy in 2 cases and 13 cases of trisomy in 2 cases. There were 3 cases of balanced translocation and inverted position, accounting for 23.1% (3/13) and 4 cases of chimerism (30.8%, 4/13). Conclusion: Fetal amniotic fluid cell karyotype analysis is a common prenatal diagnosis method to diagnose fetus with chromosome disease. It has the advantages of correct, safe and reliable diagnosis. Prenatal diagnosis of high-risk pregnant women is an indispensable part of intervention for birth defects, to prevent the birth of deformed fetus has some clinical significance.