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目的分析孕期不同高危指征与胎儿染色体异常之间的关系,提高产前胎儿染色体异常检出率。方法对1973例高危孕妇利用孕中期羊膜腔穿刺进行胎儿染色体核型分析。结果 1973例产前诊断病例共检出染色体异常核型69例,异常率为3.50%,其中三体综合征39例,占异常核型的56.52%;性染色体数目异常11例,占异常核型的15.94%;常染色体结构异常19例,占异常核型的27.54%。结论血清筛查高危、高龄及B超“软指标”异常等高危孕妇,应进一步检测胎儿染色体,以减少染色体异常患胎出生。
Objective To analyze the relationship between different high-risk indications during pregnancy and fetal chromosomal abnormalities and to improve the detection rate of prenatal fetal chromosomal abnormalities. Methods Fetal chromosome karyotypes were analyzed in 1973 high risk pregnant women by using the second trimester amniocentesis. Results Among the 1973 cases of prenatal diagnosis, 69 cases were detected chromosomal abnormalities, the abnormality rate was 3.50%, of which 39 cases were trisomy syndromes, accounting for 56.52% of abnormal karyotypes; 11 cases of abnormal sex chromosomes, accounting for abnormal karyotype 15.94%. There were 19 autosomal abnormalities, accounting for 27.54% of the abnormal karyotypes. Conclusion Serum screening of high-risk, elderly and B ultrasound “soft index ” abnormalities and other high-risk pregnant women, fetus chromosomes should be further detected to reduce chromosomal abnormalities in childbirth.