产前诊断指征在胎儿染色体异常诊断中的价值

The value of prenatal diagnosis indications in the diagnosis of fetal chromosomal abnormalities

目的:探讨产前诊断指征在胎儿染色体异常诊断中的意义以指导妊娠结局。方法:对具有产前诊断指征的孕妇604例进行羊水穿刺,检查胎儿染色体类型,对比不同指征胎儿的染色体异常情况,分析不同染色体类型与不同妊娠结局之间的关系。结果:604例孕妇中共检出染色体异常胎儿23例(3.81%),其中平衡易位组检出率最高55.56%,其次为B超检查异常组检出率(15.38%),与其他各组相比,差异具有统计学意义(P<0.05)。胎儿染色体异常23例中,选择终止妊娠20例,继续妊娠3例。结论:对具有产前诊断指征的高危孕妇进行羊水穿刺,羊水细胞检查以及染色体分析等相关检查,能够及时发现遗传基因异常的胎儿,而且能够有利于降低先天缺陷新生儿的出生率,提高出生人口质量,保证新生儿生命质量。

Objective:To explore the significance of prenatal diagnosis in the diagnosis of fetal chromosomal abnormalities in order to guide the pregnancy outcome.Methods:Amniotic fluid puncture was performed in 604 pregnant women with indications for prenatal diagnosis.We compared the chromosomal abnormalities in fetuses with different indications,analyzed the relationship between different chromosome types and different pregnancy outcomes.Results:23(3.81% )cases of abnormal fetal chromosome were detected in 604 cases of pregnant women.The balanced translocation group had the highest detection rate of 55.56%,then the second abnormal detection rate was 15.38% in the B Ultrasound group.Compared with other groups,the differences were statistically significant(P<0.05).In 23 cases of fetal chromosomal abnormalities,20 cases chose termination of pregnancy,continue pregnancy in 3 cases.Conclusion:Amniotic fluid puncture,amniotic fluid cell examination and chromosome analysis were performed in high-risk pregnant women with indications for prenatal diagnosis.It can be found in a timely manner genetic abnormalities of the fetus,and it can help to reduce the birth rate of birth defects,improve the quality of the birth population,and ensure the quality of life of the newborn.