产前诊断指征与胎儿染色体异常的临床分析

Clinical analysis of prenatal diagnosis indication in the diagnosis of fetal chromosomal abnormalities

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。

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.