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【目的】分析18-三体综合征的产生和主要表现,探讨利用母亲血清筛查和胎儿超声筛查进行胎儿产前诊断的有效性。【方法】分析18-三体综合征患儿的染色体核型及临床表现,复习产前诊断的文献。【结果】在孕早、中期利用超声检查和母亲血清生化指标进行产前筛查实验,对有异常指标的胎儿可利用孕早期绒毛培养及孕中期羊水细胞培养和脐静脉穿刺等方法检测胎儿染色体核型,可提高18-三体及其他染色体异常的检出率。【结论】孕妇血清生化指标筛查结合胎儿超声检查是产前检出18-三体综合征胎儿的有效筛查手段。产前诊断可以有效预防染色体缺陷患儿的出生,减少家庭和社会的巨大压力。
【Objective】 To analyze the production and main manifestations of 18-trisomy syndrome and to explore the effectiveness of using maternal serum screening and fetal ultrasound screening for prenatal diagnosis of fetuses. [Methods] To analyze the karyotype and clinical manifestations of children with 18-trisomy syndrome and to review the literature of prenatal diagnosis. 【Results】 The results of prenatal screening in early pregnancy and mid-term using ultrasound and maternal serum biochemical indexes were used to detect fetus chromosomes in fetus with abnormal indexes in early pregnancy villus culture and second trimester amniotic fluid cell culture and umbilical vein puncture Karyotype, can improve the detection of 18-trisomy and other chromosomal abnormalities. 【Conclusion】 Serum biochemical markers in pregnant women combined with fetal ultrasound examination is an effective screening method for prenatal detection of 18-trisomy syndrome fetus. Prenatal diagnosis can effectively prevent the birth of children with chromosomal defects and reduce the enormous pressure of family and society.