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目的探讨孕中期行产前诊断的不同临床指征在检测出胎儿性染色体异常方面的应用。方法通过对有产前诊断指征的12 314例孕妇行羊膜腔穿刺,抽取羊水行羊水细胞遗传学检查。结果共检测出54例性染色体异常,异常率为0.4%(54/12314),其中以特纳综合征为主,34例,其次克氏综合征14例,还有超雌综合征4例,以及超雄综合征2例。主要行产前诊断的临床指征依次为唐氏筛查高危、高龄妊娠及超声检查异常等。结论孕中期性染色体异常在产前诊断中检出率较高,而唐氏筛查高危与高龄是孕中期产前诊断中检测出性染色体异常的主要临床指征。
Objective To explore the application of prenatal diagnosis of different clinical indications during the second trimester in the detection of fetal chromosomal abnormalities. Methods Amniocentesis was performed on 12 314 pregnant women with prenatal diagnosis indications and amniotic fluid extraction of amniotic fluid by cytogenetics. Results A total of 54 cases of chromosomal abnormalities were detected. The abnormality rate was 0.4% (54/12314), of which 34 cases were Turner’s syndrome, 14 cases were Kirschner’s syndrome, 4 were super-estrus syndrome, And super hero syndrome in 2 cases. The main line of prenatal diagnosis of clinical indications followed by Down’s screening of high risk, advanced pregnancy and ultrasound abnormalities. Conclusion The prevalence of chromosomal abnormalities in the second trimester of pregnancy is high in the prenatal diagnosis. However, Down’s screening of high-risk and high-risk pregnancies is the main clinical indication for the detection of sex chromosome abnormalities during the second trimester of pregnancy.