摘要
目的 评估产前风险筛查染色体异常核型在胎儿染色体病诊断中的意义。方法 在妊娠16～30w，绝大部分在妊娠18～22w的胎儿，对21-三体筛查高风险、18-三体筛查高风险、≥35岁孕妇和曾孕育过染色体异常胎儿4种对象抽取胎儿羊水，经羊水细胞培养，制备染色体标本，作染色体核型分析。结果 在分析的908例胎儿羊水细胞染色体核型中，异常核型19例，占2．09％，其中21-三体筛查高风险者438例，确诊5例为21-三体（1．14％），18-三体筛查高风险者232例，最后确诊2例（0．86％）。结论 风险筛查可以明显提高产前诊断染色体病的效力。
Objective ： To evaluate the meaning of screening abnormal karyotype for prenatal cytogenetic diagnosis. Methods ： The amniotic fluid cells were collected from the pregnant woman with high risk of 21 -trisome, high risk of 18 -trisome, age of more than 35 years old, and bern abnormal fetus before. The cells were cultured to analyze karyotype. Results： 19 fetus with abnormal karyotype in analyzing 908 fetal amniotic fluid were observed. The frequency of abnormal karyotype was 2. 09%. 5 of 438 fetus with high risk of screening 21 - trisome （ 1.14% ） and 2 of 232 fetus with high risk of screening 18 - trisome （0. 86% ） were determined. Conclusion： The effectiveness for prenatal cytogenetic diagnosis could be increased with screening risk.
出处
《中国优生与遗传杂志》
2006年第5期41-42,共2页
Chinese Journal of Birth Health & Heredity
