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目的:分析探讨胎儿染色体异常与产前危险因素诊断对胎儿预后的影响。方法:回顾分析2013年1月-2014年4月间因各种原因行脐带血穿刺、羊膜腔穿刺产前诊断胎儿染色体612例临床资料,发现染色体异常胎儿32例。结果:染色体异常总检出率为5.23%,胎儿染色体异常主要表现为:46,XY,t(21;14)2例;46,XX,t(11;12)3例,产前诊断为夫妻中存在染色体平衡易位。46,XY,inv(9)13例,产前诊断为羊水少。46,XY,inv(Y)2例,产前诊断为唐氏综合征。47,XXY/46,XX 3例,产前诊断为唐氏高危症。47,XYY 9例,产前诊断为高龄。结论:夫妻之一染色体平衡异位、羊水少、唐氏综合征、唐氏高危症、高龄产妇是诱发胎儿染色体异常的危险因素,在孕9~15周行NT值、B超、唐氏综合征筛查可有效降低出生缺陷。
Objective: To analyze the impact of fetal chromosomal abnormalities and prenatal risk factors on fetal prognosis. Methods: From January 2013 to April 2014, we retrospectively analyzed the clinical data of 612 cases of fetal chromosome diagnosed by cord blood puncture and amniocentesis for various reasons from January 2013 to April 2014, and found 32 cases of chromosomal abnormalities. Results: The total detection rate of chromosomal abnormalities was 5.23%. Fetal chromosomal abnormalities were mainly seen in 46, XY, t (21; 14), 3 cases of 46, XX, t (11; 12) There is a chromosomal equilibrium translocation. 46, XY, inv (9) 13 cases, prenatal diagnosis of oligohydramnios. 46, XY, inv (Y) 2 cases, prenatal diagnosis of Down Syndrome. 47, XXY / 46, XX 3 cases, prenatal diagnosis of Down’s high-risk disease. 47, XYY 9 cases, prenatal diagnosis of advanced age. CONCLUSIONS: One of the couples is at risk of chromosomal abnormalities due to abnormal ectopic chromosomes, oligohydramnios, Down Syndrome, Down’s syndrome and advanced maternal age. NT values, B-ultrasound and Down’s syndrome Sign screening can effectively reduce birth defects.