69例产前诊断胎儿染色体异常病例的临床分析  

Prenatal cytogenetic diagnosis study of 69 cases of chromosome abnormalities

作　　者：张艳 陶伟 

机构地区：[1]河北省涿州市妇幼保健院,河北涿州072750

出　　处：《中国优生与遗传杂志》2014年第9期80-81,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析孕期不同高危指征与胎儿染色体异常之间的关系,提高产前胎儿染色体异常检出率。方法对1973例高危孕妇利用孕中期羊膜腔穿刺进行胎儿染色体核型分析。结果 1973例产前诊断病例共检出染色体异常核型69例,异常率为3.50%,其中三体综合征39例,占异常核型的56.52%;性染色体数目异常11例,占异常核型的15.94%;常染色体结构异常19例,占异常核型的27.54%。结论血清筛查高危、高龄及B超"软指标"异常等高危孕妇,应进一步检测胎儿染色体,以减少染色体异常患胎出生。Objective： Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities and different high-risk indicators. Methods： From January 2007 to December 2013, 1973 pregnant women with high-risk indicators underwent anmiocentesis in mid-trimester and prenatal diagnoses. Results： Chromosomal abnormalities were observed in 3.50% （69/1973） of the samples. Of these, trisomy 21 was detected in 39 of 69 （56.52%） , sex chromosomal abnormalities in 11 of 69 （15.94%） , and other chromosomal structural abnormalities in 19 of 69 （27.54%） . Conclusion.. Amniocentesis prenatal diagnostic technique is feasible tool for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a higher frequency of fetal genetic diseases.

关 键 词：羊膜腔穿刺 血清筛查高危 高龄孕妇 染色体核型 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]