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目的分析妊娠中晚期进行产前诊断的高危孕妇脐血细胞染色体核型,以及脐静脉穿刺对于染色体疾病产前诊断的意义。方法对912例有产前诊断指征的孕妇,妊娠17～34w,在B超引导下经腹行胎儿脐静脉穿刺术,抽取脐血进行细胞培养及染色体制备,并对核型结果进行分析。结果在912例胎儿脐血培养病例中发现异常核型46例,检出率为5.04%,其中常染色体三体16例,性染色体三体1例,易位2例,倒位15例,嵌合体4例,其它染色体异常8例。结论有产前诊断指征的孕妇应积极进行产前诊断以预防出生缺陷。
Objective To analyze the karyotype of umbilical cord blood cells in prenatal diagnosis of high-risk pregnancies and the significance of umbilical vein puncture for prenatal diagnosis of chromosomal diseases. Methods 912 pregnant women with prenatal diagnosis indications, 17 to 34 weeks of gestation, underwent umbilical vein puncture under the guidance of B-ultrasound, cord blood was drawn for cell culture and chromosome preparation, and karyotype results were analyzed. Results Of the 912 fetal umbilical cord blood cultures, 46 cases of abnormal karyotype were found, the detection rate was 5.04%. Among them, 16 cases were autosomal trisomy, 1 case was trisomy, 2 cases were translocation and 15 cases were inverted. 4 cases, 8 cases of other chromosomal abnormalities. Conclusion Pregnant women with indications for prenatal diagnosis should be active in prenatal diagnosis to prevent birth defects.