摘要
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 fetal chromosomal karyotypes in prenatal diagnosis and the relationship between abnormal karyotypes and the indications of prenatal diagnosis. Methods Fetal chromosomal karyotypes were examined in 247 pregnant women (16 to 28 weeks' gestation) by amniocentesis. Results 14 abnormal chromosomal karyotypes were detected, the abnormal rate was 5.67%. Trisomy was the major abnormality, it was 7out of 14(50%), including 4 trisomy 21(42.86%)?2 trisomy 18(28.57%)?1 trisomy 13(14.28%).Balanced translocation was found in 6 fetuses, the frequency was 42.86%. In 18 pregnant women aged over 35 years,1 (5.56%) with trisomy 21 was detected, and 3 of trisomy 21 were in 229 pregnant women aged under 35 years (1.31%,P=0.235). 3 Trisomy were detected in 15 fetuses with ultrasonographic suspected abnormalities. Conclusions During the second trimester, in the pregnant women who had different indications for prenatal diagnosis, the rate of chromosomal abnormality was 5.67%. Trisomy was the most common abnormal karyotype. As one method of prenatal screening, ultrasound in the second trimester could increase the antenatal detection rate of fetal chromosomal abnormality.
出处
《中华围产医学杂志》
CAS
2003年第4期211-214,共4页
Chinese Journal of Perinatal Medicine
关键词
妊娠中期
孕妇
羊水细胞
染色体核型
产前诊断
羊膜腔穿刺术
Pregnancy trimester, second
Chromosome disorders Amniocentesis
Karyoty-ping
Ultrasonography, prenatal
