羊水细胞染色体产前诊断各指征及妊娠结局分析  

Amniotic fluid cell chromosome prenatal diagnosis indicators and pregnancy outcome analysis

作　　者：何建萍[1] 吕梦欣 李霖华[1] 党峰博[1] 杨菊芬[1] 王诗丽[1] He Jianping;Lv Mengxin;Li Linhua(Kunming Maternal and Child Care Hospital,Genetic Room,Yunnan,Kunming,650000,Chin)

机构地区：[1]昆明市妇幼保健院遗传室,云南昆明650031

出　　处：《云南医药》2018年第4期304-306,共3页Medicine and Pharmacy of Yunnan

基　　金：昆明市卫生科技人才培养暨技术中心建设项目(编号:SW(技)-25)

摘　　要：目的探讨羊水细胞染色体异常的产前诊断各指征的意义及妊娠结局分析。方法 618例具产前诊断指征的孕妇在超声引导下行羊膜腔穿刺抽取羊水进行染色体核型分析。结果对618份羊水标本分析发现染色体异常42例,发生率为6.8%。在42例染色体异常孕妇中,15例选择终止妊娠,3例失访,23例选择继续妊娠(出生后随访未见明显异常)。42例羊水染色体异常胎儿的孕妇临床表现:>35岁确诊阳性13例,占羊水染色体多态性胎儿的孕妇的28.9%;唐氏综合征筛查高风险确诊阳性10例,占23.8%;无创筛查高风险阳性为9例,占21.4%;胎儿超声软指标异常7例占2.4%;结论高龄与唐氏筛查高风险为产前诊断的主要指征,其次为超声检查、无创高风险、不良孕产史及其他因素;无创高风险筛查阳性确诊率最高;而筛查异常病例最多的为高龄及唐氏筛查,最后是超声检查。在这些异常中,23例为数目异常(54.8%),15例为结构异常(35.7%),4例为多态变异(9.5%)。其中大量数目异常为21三体。Objective To investigate the significance of prenatal diagnosis of chromosomal abnormalities in amniotic fluid cells and the analysis of pregnancy outcomes. Methods A total of 618 pregnant women with prenatal diagnosis were enrolled in amniocentesis by ultrasound-guided amniocentesis for karyotype analysis. Results A total of 42 cases of chromosomal abnormalities were found in 618 amniotic fluid samples, with an incidence of 6.8%. Of the 42 chromosomal abnormalities, 15 chose to terminate the pregnancy, 3 were lost to follow-up, and 23 chose to continue the pregnancy （no obvious abnormalities after birth）. Clinical manifestations of 42 pregnant women with amniotic fluid chromosomal abnormalities： 13 cases were diagnosed positive than 35 years old, 28.9% of pregnant women accounted for polymorphism of amniotic fluid chromosomes; 10 cases were positive for high risk diagnosis of Down syndrome, accounting for 23.8%; non-invasive Screening for high-risk positive was 9 cases, accounting for 21.4%; fetal ultrasound soft index abnormalities accounted for 2.4%; Conclusion High-risk and Down＇s screening high risk was the main indication for prenatal diagnosis, followed by ultrasound examination, non-invasive high risk The history of adverse pregnancy and other factors; non-invasive high-risk screening has the highest rate of positive diagnosis; the most common cases of screening abnormalities are advanced age and Down＇s screening, and finally ultrasound. Of these abnormalities, 23 were abnormal （54.8%）, 15 were structural abnormalities （35.7%）, and 4 were polymorphic （9.5%）. A large number of abnormalities are 21 trisomy.

关 键 词：羊水 染色体异常 产前诊断指征 妊娠结局 

分 类 号：R714[医药卫生—妇产科学]