超声联合羊水染色体检查在产前诊断中的应用

目的 探讨超声联合羊水染色体检查在产前诊断中对染色体异常胎儿的筛查效果,为产前诊断提供临床经验.方法 对1398例孕妇行超声联合羊水染色体检查,其中经超声检查发现胎儿异常128例,并行羊水染色体检查,且经引产或出生后病理学检查确诊87例(试验组),另选择超声检查正常且同意行羊水染色体检查孕妇85例(对照组).结果 超声检查的常见畸形情况:脑积水13例,脊柱裂8例,心脏畸形6例,脐膨出6例,唇裂6例,脊柱裂并脑积水6例,脑膜膨出5例.试验组胎儿染色体异常率(70.1％,61/87)显著高于对照组(1.2％,1/85)(P＜ 0.01).结论 超声检查可作为胎儿染色体异常的辅助诊断,联合羊水染色体检查可明显提高染色体异常检出率,提高人口质量.

Application of ultrasound combined with amniotic fluid chromosome examination in prenatal diagnosis

Objective To explore the effect of ultrasound combined with amniotic fluid chromosome examination in prenatal diagnosis of chromosomal abnormal fetus,so as to provide prenatal diagnosis for the clinical experience.Methods One thousand three hundred and ninety-eight pregnant women were examined by ultrasound combined with amniotic fluid chromosome examination,of which 128 cases were found fetal abnormality by ultrasound,87 cases of the ultrasound abnormal fetus as experimental group,and the other 85 normal fetus were randomly selected as control group.Results The common deformity was found by ultrasound:hydrocephalus with 13 cases, bifid spine with 8 cases,heart malformation with 6 cases,acromphalus with 6 cases,harelip with 6 cases,bifid spine combined with hydrocephalus with 6 cases,meningocele with 5 cases.The rate of fetal chromosomal abnormality in experimental group (70.1％,61/87 ) was significantly higher than that in control group ( 1.2％,1/85 )(P ＜ 0.01 ).Conclusion Ultrasound can be used as the diagnosis of fetal chromosomal abnormalitiy,and combined with amniotic fluid chromosome examination can significantly improve the detection rate of chromosomal disorder and improve population quality.