69,XXY伴严重生长迟缓及眼球突出病例的产前诊断  

Prediagnosis a case of 69,XXY with severe asymmetrical fetal growth and eyeballs standout abnormally

作　　者：周静[1] 林远珊[1] 曹荔[1] 刘邺[1] 许争峰[1] 

机构地区：[1]南京市妇幼保健院遗传室,210004

出　　处：《中国优生与遗传杂志》2007年第10期51-53,F0004,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析孕中期血清筛查数据和胎儿彩色多普勒与染色体异常之间的关系。方法对一孕中期血清产前筛查18三体风险1:10,血清Free-hCGβ异常减低(值为1.29ng/ml即0.08MOM),胎儿系统结构检查提示胎儿小于孕周,头腹围比(1.63)大于正常(1.25),上唇连续性中断延至鼻底的孕妇进行羊膜腔穿刺,抽取羊水进行细胞遗传学检查。结果羊水细胞染色体核型:69,XXY。结论中孕期妇女血清Free-hCGβ异常减低和胎儿头胸围发育不同步、胎儿唇腭裂提示胎儿染色体畸变可能,血清和超声联合筛查有助于染色体疾病的检出。Objective： To investigate correlation between second - trimester screening result, fetus ultrasound screening and chro- mosomal aberration. Methods： Amniocentesis and culture cells in amniotic fluid, then collect the cells for fetal karyotype determina- tion. Results： The fetal karyotype was 69, XXY. Conclusion： The remarkable low level Free - hCGβ, severe asymmetrical fetal growth suggest the probability of fetal chromosomal aberration, combination blood serum and ultrasound screening is in favor of detec- tion chromosomal disease.

关 键 词：血清筛查 超声筛查 染色体畸变 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]