南宁地区1790例高龄孕妇妊娠中晚期胎儿染色体核型分析  

Analysis of chromosomal karyotypes on 1790 advanced pregnancy women during the second and third trimesters of gestation

作　　者：张强[1] 周元圆[1] 费冬梅[1] 黄红倩[1] 刘天盛[1] 张海燕[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传实验室,南宁530003

出　　处：《中国优生与遗传杂志》2012年第11期61-62,118,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对高龄孕妇的羊水、脐带血进行培养及核型分析来探讨高龄孕妇所孕胎儿染色体异常情况及三体发生率与年龄的相关性,为遗传咨询和产前诊断提供理论依据。方法通过对2010年至2011年,两年间在我院遗传门诊就诊的1790例高龄(≥35周岁)孕妇进行羊膜腔穿刺或脐带血管穿刺,抽取羊水及脐带血做细胞培养,观察培养情况,并进行核型分析。分析高龄孕妇染色体异常核型检出情况。结果 1790例高龄孕妇中共检出核型异常158例,异常检出率为8.82%。在不同年龄组,35-37岁,38-40岁,≥41岁三体发病率分别为1.06%,1.42%,2.08%。结论高龄孕妇随年龄增长染色体异常几率增加,高龄孕妇有必要行产前诊断。Objective： To analyze the fetal chromosomal karyotypes and trisomy incidence with age from amniotic fluid and cord blood samples obtained by cordocenteses during the second and third trimesters, and to investigate the types of chromosomal abnormalities, as well as the relationship between the abnormal karyotypes and the indications of prenatal diagnosis. Methods： Through 2010 to 2011 in our hospital to genetic clinics in 1790 cases of elderly pregnant women （ ≥ 35 ） undergoing amniocentesis or umbilical cordblood draw, through cell culture training and karyotype analysis. Analysis of the abnormal chromosome karyotype in women of advanced maternal age. Results ： 158 cases of chromosome abnormalities were detected among 1790 prenatal diagnostic samples with the abnormal rate of 8. 8%. The incidences of trisomy 21 is different among the pregnant women with different ages. The ration is 1.06% in 35 - 37 years old, 1. 42% in the 38 -40 years old, 2. 08% is over 41 years old. Conclusions： Risk of fetal chromosome abnormalities is higher in advanced pregnant women, appropriate techniques should be used to screen fetal chromosomes during different gestation weeks in advanced pregnant women.

关 键 词：高龄孕妇 羊膜腔穿刺 脐带血穿刺 染色体核型 

分 类 号：R714.5[医药卫生—妇产科学]