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目的:分析妊娠中、晚期胎儿羊水染色体核型,了解该时期异常核型出现的频率类型及与诊断指征的关系。方法:357例有产前诊断指征的孕妇,在妊娠13-17行羊膜腔穿刺术,取羊水细胞培养,分析胎儿染色体核型。结果:羊水细胞培养成功率91.6%,发现异常核型21例(6.4%),其中妊娠中期检出异常5.7%(16/282);晚期异常11.1%(5/45),P>0.05。染色体异常携带者和各种三体为主要的异常核型,分别占52.4%(11/21)和33.3%(7/21)。高龄孕妇异常检出率为10.2%(5/49),非高龄组为5.8%(16/278),P>0.05。平衡易位组为52.4%,(11/21);胎儿宫内发育迟缓(IUGR)16.7%(1/6)血清学筛查风险值增高为5.9%(1/17)。结论:在有产前诊断为指征的孕妇,胎儿染色体异率为6.4%,染色体异常携带者和各种三体为主要的异常,是高龄以及IUGR最常见的异常。羊水细胞培养对于中、晚期妊娠的高风险孕妇行产前诊断是安全、可靠、诊断方法之一。
OBJECTIVE: To analyze the karyotype of amniotic fluid in fetus of middle and late pregnancy, and to find out the frequency of abnormal karyotype in this period and its relationship with diagnostic indications. Methods: 357 pregnant women with indications for prenatal diagnosis of amniocentesis were divided into amniocentesis and amniocentesis. Results: The success rate of amniotic fluid cell culture was 91.6%. There were 21 cases (6.4%) with abnormal karyotype, of which 5.7% (16/282) were abnormal in the second trimester of pregnancy and 11.1% (5/45) of late abnormalities, P> 0.05. Chromosomal abnormalities carriers and a variety of trisomy as the main abnormal karyotype, accounting for 52.4% (11/21) and 33.3% (7/21) respectively. The detection rate of abnormal pregnant women was 10.2% (5/49) in pregnant women and 5.8% (16/278) in non-elderly women, P> 0.05. 52.4% (11/21) in the balanced translocation group, and an increase of serological screening risk of 5.9% (1/17) in 16.7% (1/6) of intrauterine growth retardation (IUGR). CONCLUSIONS: In prenatal diagnosis of pregnant women, fetal chromosomal abnormalities of 6.4%, chromosomal abnormalities carriers and a variety of trisomy as the main anomaly, is the most common abnormalities in elderly and IUGR. Amniotic fluid cell culture for prenatal diagnosis of high risk pregnant women in the late pregnancy is a safe, reliable, one of the diagnostic methods.