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目的:分析产前诊断指证与胎儿染色体检测结果的关系。方法:3405例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析。结果:3405例孕妇共检出胎儿染色体异常88例,染色体异常率为2.6%,显著高于一般人群的异常率(P<0.01)。其中夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达25.9%(7/27),产前胎儿超声异常标记组、孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为6.2%(49/778)、1.7%(22/1283)和1.1%(7/664)。18-或21-三体儿妊娠史组、体外受精组、本次妊娠有先兆流产史组和孕期不良因素接触组,均未检出胎儿染色体异常。结论:出现胎儿染色体异常率最高的指证,依次为夫妇一方染色体平衡易位携带者、产前超声发现胎儿异常标记、孕母血清唐氏筛查阳性和高龄孕妇。有针对性地进行产前诊断,可有效地控制和减少出生缺陷的发生。
Objective: To analyze the relationship between prenatal diagnosis indications and fetal chromosomal test results. Methods: A total of 3405 pregnant women with prenatal diagnosis were enrolled in this study. Amniocentesis or umbilical vein puncture was performed. Amniotic fluid cells or umbilical cord blood cells were collected for fetal karyotype analysis. Results: Of 3405 pregnant women, 88 cases of fetal chromosomal abnormalities were detected, the rate of chromosomal abnormalities was 2.6%, which was significantly higher than that of the general population (P <0.01). The rate of fetal chromosomal abnormalities was 25.9% (7/27) in the couples with chromosomal equilibrium translocation carriers, the abnormal rates in prenatal fetal ultrasound abnormal marker group, maternal serum Down’s screening positive group and advanced pregnant women group Were 6.2% (49/778), 1.7% (22/1283) and 1.1% (7/664). 18- or 21-trisomy gestation history group, IVF group, the history of pregnancy with threatened abortion history group and exposure to adverse factors in contact group, did not detect fetal chromosomal abnormalities. CONCLUSION: The highest rate of fetal chromosomal abnormalities is evidenced by the presence of chromosomal equilibrium translocation carriers on one side, fetal abnormalities detected by prenatal ultrasound, negative Down’s screening of pregnant maternal serum, and advanced pregnant women. Targeted prenatal diagnosis, can effectively control and reduce the incidence of birth defects.