产前诊断中胎儿性染色体异常及临床分析  

Clinical Analysis of Prenatal Diagnosis on Fetal Sex Chromosome Abnormalities

作　　者：薛会丽[1] 李丽英[1] 陈雪美[1] 李英[1] 黄海龙[1] 徐两蒲[1] 

机构地区：[1]福建省妇幼保健院福建省产前诊断中心,福州350001

出　　处：《福建医科大学学报》2016年第6期407-410,419,共5页Journal of Fujian Medical University

基　　金：福建省科技厅科技成果转化和产业化项目(闽财指2013-1509);福建省临床重点专科建设项目(计划生育)(闽财指2012-1589);福建省卫计委青年科研课题(2014-1-19)

摘　　要：目的探讨不同介入性产前诊断指征与胎儿性染色体异常之间的关系。方法对14 680例行介入性产前诊断的孕妇制备胎儿染色体,分析胎儿性染色体异常与产前诊断指征的相关性。结果检出胎儿性染色体异常118例(0.80%),其中数目异常45例(38.14%,45/118),包括47,XXX 16例,45,X 14例,47,XXY 8例,47,XYY 7例;结构异常36例(30.51%,36/118),包括臂间倒位27例,易位2例,X长臂缺失2例,i(Xp)2例,i(Xq)及Yp+各1例;嵌合体37例(31.36%,37/118)。118例中,产前筛查高风险50例,高龄38例,不良孕产史6例,超声异常28例,其中6例合并以上指征≥2个。结论各种介入性产前诊断指征对胎儿性染色体异常的检出均有重要价值。Objective To investigate the relationship between the indications of prenatal diagnosis and fetal sex chromosome abnormalities. Methods A total of 14 680high-risk pregnant women was involved in the study. Amniotic fluid or umbilical cord blood chromosome karyotype was prepared by amniocentesis or umbilical vein puncture,analyzed the correlation of fetal sex chromosome abnormalities and the indications of prenatal diagnosis. Results 118 cases were diagnosed as sex chromosome abnormalities,accounting for 0.80% of the total.43 cases were diagnosed as sex chromosome numerical abnormalities,accounting for 38.14% of the abnormal karyotype,including 47,XXX（16cases）,45,X（14cases）,47,XXY（8cases）,47,XYY（7cases）;36cases were diagnose as sex chromosome structural abnormalities,accounting for 30.51% of the abnormal karyotype,including 27 cases in pericentric inversion,2cases in translocation,2cases in lack of long arm,2cases in i（Xp）,1case in i（Xq）,1case in Yp.37 cases were diagnosed as Chimera,accounting for 31.36% of the abnormal karyotype. Among 118 cases fetus sex chromosome abnormality,50 cases in prenatal screening high-risk,38 cases in advanced maternal age（AMA）pregnant women,6cases in abnormal child-bearing history,28 cases in abnormal ultrasonic.6cases merge two or more indications. Conclusion serological prenatal screening,AMA,ultrasound abnormalities and adverse pregnancy history are important in detecting fetal chromosomal abnormalities.

关 键 词：产前诊断 性染色体畸变 遗传咨询 

分 类 号：R714.53[医药卫生—妇产科学]