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目的 分析妊娠中期进行产前诊断的孕妇羊水细胞染色体核型 ,了解此期异常核型发生的频率、类型及与各种产前诊断指征的关系。 方法 对 2 4 7例妊娠中期孕妇行羊膜腔穿刺术抽羊水作羊水细胞培养检查染色体核型。 结果 发现异常核型 14例 ,异常核型出现频率为 5 .6 7% ,其中三体型 7例 ,占异常核型的 5 0 % ,分别为 2 1三体 4例 ,18三体 2例 ,13三体 1例 ;其次为平衡易位6例 ,占 4 2 .86 %。高龄孕妇中 2 1三体检出率为 5 .5 6 % (1/ 18) ,非高龄组为 1.31% (3/ 2 2 9) ,P=0 .2 35 ,差异无显著性。15例产前常规 B超检查发现胎儿发育异常的孕妇中 ,检出三体儿 3例。 结论 在有各种产前诊断指征的妊娠中期孕妇中 ,胎儿染色体异常发生率为 5 .6 7% ,染色体三体为主要的异常核型。孕中期 B超检查做为产前常规筛查可提高胎儿染色体异常的检出率。
Objective To analyze the karyotypes of amniotic fluid cells in prenatal diagnosis during the second trimester of pregnancy and to find out the frequency and types of abnormal karyotypes and the relationship with various prenatal diagnosis indications. Methods Twenty-four pregnant women of the second trimester underwent amniocentesis by amniocentesis for amniotic fluid cell culture. The results showed that in 14 cases of abnormal karyotype, the frequency of abnormal karyotype was 5.67%, of which trisomy 7, accounting for 50% of the abnormal karyotype were 4 cases of 21 trisomy, 2 cases of trisomy 18, 13 trisomy in 1 case, followed by 6 cases of balanced translocation, accounting for 42.86%. The prevalence of trisomy 21 in pregnant women was 5.56% (1/18) in pregnant women, and 1.31% (3/229) in non-elderly women, P = 0.235, the difference was not significant. 15 cases of prenatal routine B-ultrasound found fetal abnormalities in pregnant women, detected three children in three cases. Conclusions In the second trimester of pregnant women with various prenatal diagnosis indications, the incidence of fetal chromosomal abnormalities was 5.66%. The trisomy of chromosomes was the main abnormal karyotype. Second trimester B-ultrasound screening as prenatal screening can increase the detection rate of fetal chromosomal abnormalities.