摘要
目的探讨羊水细胞染色体检查在产前诊断中的作用,并分析染色体异常与高危因素的关系。方法采用细胞遗传学方法,对羊水细胞培养G显带,染色体核型分析。结果 1635例羊水中检出异常核型103例,异常率为6.30%。异常核型分别为:常染色体三体型(13三体.18三体.21三体等)35例(33.98%);易位型3例(2.91%);性染色体异常3例(2.91%);平衡易位和倒位23例(22.33%),诊断嵌合型4例(3.88%),染色体多态性35例(33.98)。导致染色体异常的高危因素中,唐氏筛查为高风险53例占首位(51.46%),其次为高龄孕妇8例(15.5%),超声显示胎儿异常3例(14.56%),夫妇一方为染色体平衡易位携带者4例(3.88%)等。不良孕产史3例(2.91%),高通量基因测序高风险12例(11.6%)。结论 1635例羊水中检出异常核型中唐氏筛查为高风险占首位,超声提示异常组羊水染色体异常检出率明显高于高龄孕妇、产前筛查高风险,夫妇一方染色体异常携带组明显高于超声提示异常,羊水染色体核型分析是重要的染色体异常诊断方法,对于产前诊断具有重要意义。
Objective：To explore effect of amniotic fluid cell chromosome examination in prenatal diagnosis,and analysis of chromosome abnormalities and high-risk factors. Methods：The G banding and karyotype analysis of amniotic fluid cells were cultured by cytogenetic method. Results：1635 cases of amniotic fluid detected abnormal karyotype in 103 cases,the abnormal rate was 6.30%. Abnormal karyotypes were often trisomy 13 trisomy 18 trisomy 21 trisomy,etc.）in 35 cases（33.98%）;translocation type in 3 cases（2.91%）;sex chromosome abnormalities in 3 cases（2.91%）;balanced translocation,inversion and 23 cases（22.3%）,diagnosis of chimeric 4 cases（3.88%）,chromosome polymorphism in 35 cases（33.98）. Result in the high risk factors of abnormal chromosome,Down′s screening for high risk in 53 cases accounted for the first（51.46%）,followed by the women of advanced maternal age in 8 cases（15.5%）,ultrasound showed the fetal abnormalities in 3 cases（14.56%）,one party of the couple（3.88%）in carriers of balanced chromosomal translocation in 4 cases. 3 cases of adverse pregnancy history（2.91%）high-throughput gene sequencing of 12 high risk patients（11.6%）. Conclusion：1635 cases of amniotic fluid in detection of abnormal karyotype of Tang′s screening for high risk occupies the first place,ultrasound showed abnormal amniotic fluid group chromosome abnormality rate was significantly higher than that of women of advanced maternal age,prenatal screening of high risk,one party of the couple chromosome exception carries group was significantly higher than that of ultrasound showed abnormal amniotic fluid dyed color karyotype analysis is important chromosomal abnormality diagnosis method,for prenatal diagnosis has important significance.
作者
顾水琴
张卫华
金玉霞
GU Shui-qing ZHANG Wei-hua JIN Yu-xia.(Jiaxing Maternal and Child Health-Care Center, Zhejiang Province, Prenatal Diagnosis and Management Office, 314000)
出处
《中国优生与遗传杂志》
2016年第11期60-61,7,共3页
Chinese Journal of Birth Health & Heredity
关键词
羊水细胞染色体
高危因素
产前诊断
Amniotic fluid cell chromosome
High risk factors
Prenatal diagnosis
