摘要
目的分析产前诊断羊水染色体核型,总结胎儿异常核型出现的类型、发生率及相关影响因素,为产前诊断提供依据。方法对产前筛查高危孕妇知情同意下进行羊水穿刺、细胞培养及染色体制备、G显带核型分析。结果 799例羊水标本中共发现异常染色体77例,发生率为9.64%。其中21-三体4例,46,Xn,inv(9)4例,46,Xn,inv(1)(p12q12),46,Xn,inv(2)(p11q33),46,Xn,t(7;15)(q31q25),46,Xn,t(11;12)(q25;q13),46,Xn,add(15),47,XYY,47,XXY,46,Xn[65]/47,Xn,+5[3],46,Xn[43]/47,Xn,+17[4],46,Xn[95]/46,Xn,psu dic(22;22)(q13;q13)[5]各1例,染色体多态63例。结论羊水染色体核型分析是产前筛查高危确诊实验,能提高染色体病的检出率,对产前诊断有重要的指导意义。
Objective ：To analyze the chromosomal karyotype in amniotic fluid of high risk pregnant women during prenatal screening. To provide a basis for prenatal diagnosis through the type, incidence rate and related factors of the abnormal karyotype. Methods ： The amniotic fluid samples were obtained through amniocentesis for cell culture, chromosomal preparation and G - banding karyotypes analysisl Results ： 77 abnormal karyotypes were found in 799 amniotic fluid samples. The occurrence was 9.64%.There were four Down Syndrome, four 46, Xn, inv （9）, and 46, Xn, inv （1） （p12q12）,46, Xn, inv （2） （pllq33）, 46, Xn, t （7 ;15） （q31q25）,46, Xn, t （ll ;12） （q25 ;q13）,46, Xn, add （15）,47, XYY,47, XXY,46, Xn[65]/47, Xn, ＋5[3],46, Xn[43]/47, Xn, ＋17[4],46, Xn[95]/46, Xn, psu dic （22 ;22） （q13 ;q13） [5].The chromosomal polymorphisms were 63. Conclusion ： Chromosomal karyotype analysis is a confirmatory test to prenatal screening. It can increase the detection rate of chromosomal diseases. And it is important for prenatal diagnosis.
出处
《中国优生与遗传杂志》
2014年第8期38-40,共3页
Chinese Journal of Birth Health & Heredity
关键词
产前筛查
产前诊断
羊水
染色体异常
染色体多态
Prenatal screening
Prenatal diagnosis
Amniotic fluid
Chromosomal abnormality
Chromosomepolymorphism
