4427例羊水产前诊断结果分析

目的:探讨有产前诊断指征的孕妇羊水染色体核型异常情况.方法:2019年在玉林市妇幼保健院优生遗传科就诊的4427例有产前诊断指征的孕妇行羊膜腔穿刺羊水查染色体核型,通过产前诊断指征及核型结果进行统计分析.结果:4427例高危孕妇中检出异常核型245例,异常检出率5.53％.其中21三体54例(22.04％),18三体1...

Analysis on prenatal diagnosis results for 4427 cases of amniotic fluid

Objective:To explore the chromosomal abnormalities in amniotic fluid of pregnant women with prenatal diagnosis indications.Methods:A total of 4,427 cases of amniotic fluids were collected from pregnant women with prenatal diagnosis indications and visited to the Department of Eugenic Genetics in Yulin Maternal and Child Health Hospital in 2019 for amniocentesis and amniotic fluid examination of chromosome karyotypes.Analysis of the karyotype results was conducted based on the indications of prenatal diagnosis.Results:245 patients were found with abnormal karyotypes in 4427 high-risk pregnant women,the detection rate was 5.53%.Among 245 patients,54 cases(22.04%)were trisomy 21,12 were(4.09%)trisomy 18,4 were(1.63%)trisomy 13,5 were(2.04%)45,X,2 were(0.82%)47XXX,9 were(3.67%)47,XXY,3(1.22%)were 47,XYY,8 were(3.27%)derived chromosome,18(7.35%)were translocation,84 were(34.29%)inversion,repeat,insert and mark chromosomes in 1 case each(0.41%each),and 37 were(15.10%)chimeras.Conclusion:Pregnant women with indications of prenatal diagnosis have high detection rate of chromosome abnormalities in fetuses,prenatal diagnosis and genetic counseling should be conducted in time to prevent newborn birth defects.