【摘要】 目的探讨羊水细胞核型分析在妊娠中期胎儿产前诊断中的必要性。方法从2003年3月份至2011年2月份妊娠16-22周具备产前诊断指征的妊娠妇女4703例,在B超引导下进行羊水穿刺取羊水15-20ml,对羊水脱落细胞进行培养,收获,制片,G显带,并进行细胞核型分析。结果在4703例羊水细胞核型分析结果中,共检出异常核型306例,检出率为6.51%。其中染色体数目异常为142例,占3.02%,染色体结构异常为139例,占2.96%,检测到嵌合体23例,占0.49%,标记染色体2例,占0.04%。结论羊水细胞核型分析在产前诊断中可避免染色体患病胎儿的出生,是产前诊断中不可替代的手段。更多还原

【Abstract】 Objective:To explore the necessity of karyotyping for prenatal cytogenetic diagnosis.Methods: From March 2003 to February 2011,4703 women with 16-22 weeks pregnancy were genetically screened for Prenatal diagnosis indications in the Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital.All the patients were given amniocentesis under the guidance of B ultrasound and extracted 15-20ml amniotic fluid,Amniotic fluid exfoliated cells were cultured and harvested for G-band karyotype analysis.Results:306 abnormal karyotypes were detected in all the 4703 women,the ration is 6.51%.it included 142 Chromosome number abnormalities(3.02%),139 Chromosome structural abnormalities(2.96%),23 Chimeric chromosomes(0.49%),2 marker chromosomes(0.04%).Conclusion: Analysis on karyotype of amniotic fluid cells Can avoid the birth of the fetus chromosome abnormality,it is a irreplaceable means in prenatal diagnosis.更多还原