【摘要】 目的探讨产前诊断指征与胎儿染色体异常发生的关系,科学指导孕妇选择妊娠结局。方法对1373例有产前诊断指征的孕妇,在超声引导下行羊膜腔穿刺抽取羊水,检查胎儿染色体核型,比较不同产前诊断指征的胎儿染色体异常检出率,分析各组染色体异常类型与妊娠结局的关系。结果 1胎儿染色体异常检出58例,检出率为4.22%。无创DNA产前检测提示异常组、夫妇平衡易位组的染色体异常检出率(87.50%、68.75%)居第一、二位,分别与高龄组、产筛高危组、不良孕产史组间和超声检查异常组比较,差异均有统计学意义(P<0.05);高龄组、产筛高危组、不良孕产史组和超声检查异常组染色体异常检出率组间两两比较,差异均无统计学意义(P>0.05)。258例胎儿染色体异常核型病例中49例选择终止妊娠,9例选择继续妊娠,已随访57例。结论对具有产前诊断指征的孕妇进行染色体产前诊断,能及时发现胎儿染色体异常,科学指导孕妇选择妊娠结局,降低出生缺陷发生率。更多还原

【Abstract】 Objective:To investigate the relationship between the prenatal diagnosis indication and fetal chromosomal abnormalities,and assess the value in pregnancy outcomes.Methods:Percutaneous ultrasound- monitored amniocentesis was performed in 1373 pregnant women with antenatal diagnosis indications to detect the karyotype of the fetus.The detection rate of the chromosomal abnormality was compared in different group.Results:1 The detection rate of the chromosomal abnormality in 1373 cases was 4.22%(58 cases).Non-invasive Prenatal Testing showed the detection rate of chromosomal abnormality in balanced translocation couples group was 68.75%,abnormal group was 87.50%.And the elder group,producing screen high-risk group,the history of abnormal pregnancy between group and ultrasound abnormalities group,the difference was statistically significant(P<0.05);The detection rate of chromosomal anomaly was 5.45%,2.28%,1.54%,16.67% in elder group,high risk of Down syndrome group,abnormal history of reproduction,abnormal ultrasound finding,respectively.There was no significant difference between each of them(P>0.05).2 Of the 58 cases of chromosomal abnormality,49 cases chose ending the pregnancy,9 cases chose to continue pregnancy.Conclusion:Amniotic cell culture and chromosome karyotype analysis should be done in the cases with prenatal diagnosis indications.Prenatal diagnosis has not only detected fetal abnormal chromosome in time,but also provided a scientific basis for pregnant women who made a choice,and reduced the incidence of child birth defects.更多还原