论文部分内容阅读
目的对4450例高危孕妇羊水染色体核型结果进行分析,探讨染色体异常的类型、发生频率,评价羊水细胞染色体核型分析应用于产前诊断的临床意义。方法对2010.10~2014.10于无锡市妇幼保健院产前诊断中心进行产前诊断的4450例有产前诊断指征的孕妇行羊膜腔穿刺术、羊水细胞培养及胎儿染色体核型分析。结果检出各种染色体异常核型247例,异常率5.55%,染色体数目异常84例(34%),结构异常163例(65.99%)。在各染色体异常核型中21-三体发生率最高,共检出45例(其中1例46,X0,+21),占18.22%。结论对具有产前诊断指征的孕妇行羊膜腔穿刺术,进行羊水细胞培养及染色体分析十分必要。
Objective To analyze the chromosomal karyotype of amniotic fluid in 4450 high risk pregnant women and discuss the type and frequency of chromosomal abnormalities and evaluate the clinical significance of amniotic fluid cell karyotype analysis in prenatal diagnosis. Methods From March 2010 to October 2014, 4450 pregnant women with prenatal diagnosis indications for prenatal diagnosis in Wuxi Maternal and Child Health Hospital Prenatal Diagnosis Center were performed amniocentesis, amniotic fluid cell culture and fetal karyotype analysis. Results A total of 247 karyotypes were detected in all chromosomal abnormalities, with an abnormality rate of 5.55%, 84 (34%) abnormal chromosome number and 163 (65.99%) structural abnormalities. The highest incidence of 21-trisomy was found in all karyotypes of chromosomal abnormalities. A total of 45 cases (46 cases, X0, +21 cases) were detected, accounting for 18.22%. Conclusions Amniocentesis for pregnant women with prenatal diagnosis indications is necessary for amniotic fluid cell culture and chromosome analysis.