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目的分析孕期不同产前诊断指征与胎儿染色体异常的关系。方法回顾我院2011年1月至2015年12月共1837例有产前诊断指征并进行羊膜腔穿刺羊水细胞染色体核型分析的病例,研究不同产前诊断指征对染色体异常的预测价值。结果 1837例羊水标本中共检出染色体异常核型109例,异常率检出率为5.93%。高龄妊娠、唐氏筛查高风险、超声异常及无创DNA检测高风险接受产前诊断孕妇中,染色体异常检出率分别为4.18%、6.00%、16.10%和68.42%。除高龄妊娠组与唐氏筛查高风险组差异无统计学意义外,其他各组间均存在显著性差异。结论高龄妊娠、唐氏筛查高风险、超声异常及无创DNA检测高风险等高危孕妇,应进行胎儿染色体核型分析,从而减少染色体异常患儿的出生。
Objective To analyze the relationship between prenatal diagnosis indications and fetal chromosomal abnormalities during pregnancy. Methods From January 2011 to December 2015 in our hospital a total of 1837 cases of prenatal diagnosis of indications and amniocentesis amniocentesis karyotype analysis of chromosomal cases to study the different prenatal diagnosis of chromosomal abnormalities in indications. Results A total of 109 cases of chromosomal abnormalities were found in 1837 cases of amniotic fluid samples, the rate of abnormality was 5.93%. In geriatric pregnancy, Down’s screening of high-risk, ultrasonographic abnormalities and high-risk non-invasive DNA testing prenatal diagnosis of pregnant women, the detection rate of chromosomal abnormalities were 4.18%, 6.00%, 16.10% and 68.42%. Except the difference between the high-risk pregnancy group and Down’s high-risk group was not statistically significant, there were significant differences among the other groups. Conclusion Pregnancy in old age, high risk of Down’s screening, abnormal ultrasound and non-invasive detection of high-risk pregnant women should be performed fetal karyotype analysis, thereby reducing the birth of children with chromosomal abnormalities.