7738例羊水染色体核型分析

目的 探讨羊水穿刺胎儿对7738例妊娠中、晚期孕妇经腹羊膜腔穿刺,染色体检查的指征及羊水穿刺产前诊断的有效性和安全性.方法 采用羊水细胞原代培养,制备染色体,G显带进行染色体核型分析.结果 7738例羊水穿刺术中,检出异常核型375例,异常率为4.85%.其中,21三体191例(51.34%),18三体55例(14.79%),13三体7例(1.88%),22三体1例(0.27%),多倍体2例(0.54%),标记染色体6例(1.61%),性染色体异常44例(11.83%)(分别是12例47,XXY;4例47,XYY;10例47,XXX和18例45,X),嵌合体8例(2.15%),结构异常61例(16.27%).375例异常核型中,48例(12.90%)染色体异常是孕妇高龄,52例(13.99%)是血清学筛查高风险,120例(32.00%)是无创产前筛查(NIPT)检测高风险,6例(1.61%)是不良孕产史,139例(37.63%)是超声异常,8例(2.15%)是夫妻一方染色体异常,2例(0.54%)有家族遗传病史.结论 在产前诊断过程中,要结合血清学筛查结果、NIPT检测、超声检查和侵入性产前诊断方法的联合应用,以避免染色体异常患儿的出生,提高我国人口素质.

Analysis of amniotic fluid chromosome karyotype of 7738 cases

Objective To implement karyotype analysis of amniotic fluid cells of 7738 pregnant women in the second trimester and third trimester of pregnancy , to explore indications of fetal chromosome examination by amniocentesis and to investigate the efficacy and safety of amniocentesis for prenatal diagnosis .Methods Abdominal amniocentesis was practiced under B-ultrasound guidance .Primary culture of amniotic fluid cells was implemented .Chromosome specimens were prepared and karyotype of amniotic fluid cells was analyzed with G -banding.Results There were 375 cases of abnormal karyotypes in 7738 cases detected with amniocentesis , with an abnormal rate of 4.85%.Among them, 191 cases (51.34%) were trisomy 21, 55 cases (14.79%) trisomy 18, 7 cases (1.88%) trisomy 13, 1 case (0.27%) trisomy 22, and 2 cases (0.54%) polyploid.There were 6 cases (1.61%) with marker chromosome, 44 cases (11.83%) of sex chromosome abnormalities (12 cases of 47, XXY;4 cases of 47, XYY;10 cases of 47, XXX and 18 cases of 45, X), and 8 cases (2.15%) of chimeras.Sixty-one cases (16.27%) were structural abnormalities .Among 375 cases with abnormal karyotype , 48 cases (12.90%) with chromosome abnormality were pregnant women of advanced maternal age , 52 cases (13.99%) were at high risk of serological screening, 120 cases (32.00%) were at high risk of NIPT, 6 cases (1.61%) had history of abnormal pregnancy , 139 cases (37.63%) were abnormal in ultrasound founding , 8 cases (2.15%) had chromosomal abnormality in one spouse , and 2 cases (0.54%) had genetic disorders in family .Conclusion Karyotype analysis through amniocentesis is a common method for prenatal diagnosis in second and third trimester and for cause analysis of fetal malformation .Serological screening results , NIPT tests, ultrasonic examination and invasive prenatal analysis should be combined in prenatal diagnosis to effectively prevent birth of neonates with chromosomal abnormalities and improve quality of population .