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目的探讨深圳地区产前诊断中异常核型及多态性发生率及对胎儿生长发育的影响。方法 5 368例孕妇因高危因素行羊水穿刺胎儿染色体检查,分析其异常核型和多态性核型检出情况。结果 5 368例中检出染色体异常305例,异常率为5.682%,其中数目异常258例(4.769%),结构异常42例(0.782%),嵌合体5例(0.093%);检出多态性核型406例,检出率为7.563%;305例中285例选择终止妊娠,20例选择继续妊娠。结论核型分析可有效检出胎儿染色体疾病,不同异常核型导致的胎儿临床效应及妊娠结局不同,微小结构变异和不能明确来源的多态性核型需进一步结合分子检测技术以明确产前诊断。
Objective To investigate the incidence of abnormal karyotype and polymorphism in prenatal diagnosis in Shenzhen and its effect on fetal growth and development. Methods A total of 368 pregnant women underwent fetal chromosomal examinations for amniocentesis with high risk factors. The abnormal karyotypes and polymorphisms were detected. Results Among the 5 368 cases, 305 cases were detected chromosomal abnormalities with an abnormal rate of 5.682%, of which 258 cases were abnormal (4.769%), 42 cases were structural abnormalities (0.782%) and 5 cases were chimeras (0.093%). Sexual karyotype 406 cases, the detection rate was 7.563%; 285 cases of 285 cases of termination of pregnancy, 20 cases choose to continue pregnancy. Conclusion Karyotype analysis can detect chromosomal abnormalities in fetuses. The fetal clinical effect and pregnancy outcome due to different abnormal karyotypes are different. Small structural variations and polymorphisms that can not be clearly identified need to be further combined with molecular detection techniques to confirm prenatal diagnosis .