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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 2371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 2371例孕妇共检出胎儿染色体异常60例,染色体异常率为2.53%,显著高于一般人群的异常率(P<0.01)。其中孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为1.63%(13/794)、2.32%(15/646),产前胎儿超声异常标记组胎儿染色体异常率16.12%(15/93),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71.4%(5/7),21-三体儿检出25例,占异常率的41.67%(25/60),其中一例连续两次诊断出21-三体儿。结论出现胎儿染色体异常率最高的指证,依次为平衡易位携带、产前超声发现胎儿异常标记、高龄孕妇、孕母血清唐氏筛查阳性。掌握好产前诊断指证,可更有价值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 Totally 2371 pregnant women with prenatal diagnosis indications were subjected to amniocentesis or umbilical vein puncture and amniotic fluid cells or umbilical cord blood cells were cultured for fetal karyotype analysis. Results A total of 2371 pregnant women were detected in 60 cases of fetal chromosomal abnormalities, chromosomal abnormalities rate was 2.53%, significantly higher than the general population abnormal rate (P <0.01). The abnormal rates of maternal serum Down’s screening positive group and advanced pregnant women group were 1.63% (13/794) and 2.32% (15/646), respectively, and the rate of fetal chromosomal abnormality in prenatal fetal ultrasound abnormal marker group was 16.12% (15 / 93). The rate of fetal chromosomal abnormalities was 71.4% (5/7) in couples with chromosome balance translocation carriers, 25 cases (21.6%) were abnormal in 21- trisomy, accounting for 41.67% (25/60) One case of two consecutive diagnosed 21 - trisomy. Conclusion Fetal chromosomal abnormalities showed the highest rate of evidence, followed by a balanced translocation of the fetus, prenatal ultrasound found abnormal fetal mark, elderly pregnant women, maternal serum Down’s screening positive. Good grasp of prenatal diagnosis of evidence, may be more valuable to control and reduce the incidence of birth defects.