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目的:探讨高海拔地区孕妇羊水穿刺检测胎儿染色体异常核型结果分析。方法:将自愿选择120例世居高原孕妇在妊娠中期行羊膜腔穿刺,通过羊水检测获取胎儿细胞染色体核型分析,检测胎儿染色体异常,防治和降低先天性缺陷儿的出生。结果:120例孕妇羊水标本中,细胞培养成功118份,培养失败2份(细胞生长不良1份,母血混杂1份),细胞培养成功率98.33%,检出染色体异常核型5例,异常核型检出率4.16%,其中21-三体综合征3例,18-三体综合征2例。结论:高海拔地区染色体核异常比例高;羊水穿刺检测是安全、有效的产前筛查手段,为孕妇终止妊娠提供可靠依据,及早防治和降低先天性缺陷儿的出生。
Objective: To investigate the results of fetal chromosomal abnormalities karyotypes detected by amniocentesis in pregnant women at high altitude. Methods: A total of 120 pregnant women with high altitude were selected to undergo amniocentesis in the second trimester of pregnancy. The karyotypes of fetal cells were obtained by amniotic fluid detection. The chromosomal abnormalities of the fetus were detected to prevent and reduce the birth of congenital defects. RESULTS: Among the 120 cases of pregnant women with amniotic fluid, 118 were successfully cultured, 2 were failed in culture (1 in poor growth and 1 in maternal blood), and the success rate of cell culture was 98.33%. Five cases of chromosomal aberration karyotype were detected Karyotype detection rate of 4.16%, of which 21 cases of trisomy syndrome in 3 cases, 18 cases of trisomy syndrome in 2 cases. Conclusion: The high rate of chromosomal abnormalities in high altitude areas; amniocentesis is a safe and effective method of prenatal screening to provide a reliable basis for pregnant women to terminate pregnancy and prevent and reduce the birth of congenital defects as soon as possible.