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目的:探讨早孕期产前筛查和超声检查在胎儿13-三体综合征诊断中的作用。方法:对1例早孕期产前筛查结果患唐氏综合征风险率为1/30的妇女,进行羊水细胞核型分析及胎儿彩超系统筛查。结果:羊水细胞染色体核型分析结果:46,XY,-13,+t(13q11,13q11);胎儿彩超系统筛查显示胎儿外观结构有脐疝、室间隔缺损、单脐动脉等异常。结论:早孕期产前筛查染色体高风险提示胎儿存在染色体畸变可能,胎儿超声筛查有助于染色体疾病的检出。
Objective: To investigate the role of prenatal screening and ultrasonography in the diagnosis of fetal trisomy. Methods: A case of prenatal screening in early pregnancy with Down syndrome risk of 1/30 of women, for amniotic fluid karyotype analysis and fetal ultrasound system screening. Results: The amniotic fluid chromosome karyotype analysis results: 46, XY, -13, + t (13q11, 13q11); fetus color system screening showed umbilical hernia, ventricular septal defect, single umbilical artery and other abnormalities. Conclusion: The high risk of prenatal screening for chromosomes in early pregnancy suggests that there may be chromosomal aberrations in the fetus. Fetal ultrasound screening may be helpful for the detection of chromosomal diseases.