| Objective: Objective to investigate the chromosomal abnormalities of fetuses diagnosed by prenatal diagnosis in order to provide theoretical basis and reference value for the clinical consultation of pregnant women with similar risk factors.Methods: Methods 1871 cases of pregnant women who underwent amniocentesis for fetal chromosome examination were selected from our prenatal diagnosis center in January 2014 June-2016,as the object of this study.Amniocentesis,fetal cell culture and karyotype analysis were performed in 19-28 weeks pregnant women who had signed informed consent.1Inclusion criteria:Pregnant women with prenatal diagnosis of clear indications,including(1)pregnant women aged(pre production age more than 34.5 years of age)(2)ultrasound examination showed fetal structural abnormalities(3)ultrasound examination showed abnormal soft markers of fetal chromosomal abnormalities(4)second trimester serological screening for chromosomal abnormalities in high risk pregnant women(5)in peripheral blood of Qualcomm the amount of foreign gene sequencing(NIPT)positive(6)adverse pregnancy history,including more than two times and the embryo,the birth of children,the birth of abnormal chromosome structural abnormalities.2Exclusion criteria:No indications were excluded,but expectant mothers were required to take the needle.3 Research methodsOn the basis of the indications for prenatal diagnosis of different types and numbers,which can be divided into individual groups: elderly group,abnormal group,abnormal soft markers group and high risk group,serologicalscreening abnormal pregnancy group and NIPT positive group,two group,three group.Through the analysis of amniocentesis for fetal chromosome,determine the type of fetal chromosome abnormality,chromosome abnormality rate of statistical description,using SPSS21.0 statistical software,comparison between groups using chi square test,P<0.05,the difference was statistically significant.Results:1 1871 patients underwent amniocentesis in pregnant women,there were146 cases with fetal chromosome abnormalities,the detection rate was 7.8%,of which 118 cases of abnormal chromosome number,the detection rate was6.3%,accounting for 80.82% of chromosomal abnormalities;chromosome structural abnormalities in 28 cases,the detection rate of 1.5%,accounting for19.18% of chromosomal abnormalities.2 Chromosome number abnormalities include 21-trisomy 64 cases,15 cases of trisomy 18-,chimerism in 15 cases,45X10 cases,47XYY6 cases,4cases of trisomy 13-,47XYY2 cases,48XXYY1 cases,the percentage of abnormal chromosome number were 54.24%,12.71%,11.02%,8.47%,5.08%,3.39%,1.69%,0.85%,the percentage of abnormal chromosome were 43.54%,10.20%,8.84%,6.80%,4.08%,2.73%,1.36%,0.68%.chromosome structural abnormalities including chromosome deletion in 8 cases,8 cases of chromosome translocation,chromosome inversion in 7 cases,5 cases with complex chromosome,the percentage of abnormal chromosome number were27.59%,27.59%,25%,17.23%,the percentage of abnormal chromosome were 5.44%,5.44%,8.84%,4.79%,3.40%.3 Each group had 1739 cases,the serological screening of high risk group of 599 cases,473 Cases of old group,abnormal soft markers group in 241 cases,abnormal structure of group of 198 cases and a history of adverse pregnancy group 173 cases,55 NIPT positive cases,the detection of chromosomal abnormalities were 21 cases,23 cases,9 cases,19 cases,7 cases,41 cases,the detection rate is respectively 3.50%,4.86%,3.73%,9.60%,4.04%,74.55%.The detection rates of chromosome abnormalities in NIPTpositive group were the highest,higher than those in other groups,respectively,compared with P<0.05,the difference was statistically significant.The structure of abnormal detection rate of fetal chromosome abnormality is higher than the old group,abnormal soft markers group and high risk group serological screening and adverse pregnancy history were compared with P<0.05 group,the difference was statistically significant.Among the single prenatal diagnosis indications,42 cases of abnormal cardiac structure were detected by ultrasonography,9 cases of abnormal chromosomes were detected,and the abnormal rate was 21.43%.Ultrasound examination revealed 41 cases of fetal NT/NF thickening,4 cases of chromosomal abnormalities,including45,XO2,trisomy 1,trisomy 1,and abnormal rate 9.75%,21-,18-.The abnormality of fetal structural abnormality and soft index is the most important factor in the diagnosis of fetal abnormalities of the heart and NT/NF thickening.The risk of chromosomal abnormalities is increased.4 There were 131 cases in the two groups,of which 83 cases were detected with chromosome abnormalities in two cases,and the detection rate was 19.09% in 25 cases.One of the old patients with abnormal soft markers group in 24 cases,abnormal soft markers with serological screening of high risk group 18 cases of aged patients with abnormal NIPT positive group 14 cases,13 cases of old patients with abnormal structure of group structure,history of adverse pregnancy group 9 cases,the abnormal structure of NIPT positive group 3 cases,abnormal soft markers with NIPT positive group in 2cases,the detection of chromosomal abnormalities were 2 cases,1 cases,12 cases,3 cases,2 cases,3 cases,2 cases,the detection rate was 8.34%,5.56%,85.71%,23.07%,22.22%,100%,100%.The detection rate of chromosome NIPT in pregnant women with other prenatal diagnostic indications group was higher than that of the other two indications group,the difference between the two groups was P<0.05,the difference was statistically significant.Structural abnormalities associated with adverse pregnancy history group of chromosome abnormalities was higher than that of the old patients with abnormal soft markers group,P<0.05 comparison,two groups,the differencewas statistically significant.5 1 cases of pregnant women in three groups,for the elderly,structural abnormalities associated with NIPT positive,chromosome abnormalities were detected,the detection rate was 100%.6 A single group of pregnant women in 1739 cases,the detection of chromosomal abnormalities in 120 cases,the detection rate of 6.90%,including the number of abnormal 93 cases,the detection rate of 5.34%,27 cases of abnormal structure,the detection rate of 1.55% and two groups of pregnant women in 131 cases,the detection of chromosomal abnormalities in25 cases,the detection rate of 19.08%,including the number of abnormal 24 cases,the detection rate of 18.32%,1 cases of abnormal the structure,the detection rate of 0.76% and three groups of pregnant women in 1 cases,the detection of chromosomal abnormalities and chromosomal abnormalities,the detection rate of 100%.The difference between the single group,the two group and the three groups was P < 0.05,the difference was statistically significant,the more prenatal diagnosis indications,the higher the risk of chromosomal abnormalities.7 There were 55 cases of high dose jiyinc positive in pregnant women,41 cases of chromosomal abnormalities,and the detection rate was 74.55%.Conclusion:1 In this experimental study,each group was diagnosed with chromosomal abnormalities,with the highest rate of detection in the NIPT positive group.2 Pregnant women with advanced age are high risk factors for fetal chromosomal abnormalities.3 A number of pregnant women with indications for prenatal diagnosis of chromosome abnormality rate is better than that of single indications for prenatal diagnosis,therefore,clinical attention should be paid with a number of indications for prenatal diagnosis of pregnant women,combined application of various examination methods is helpful to detect chromosomal abnormalities..4 Ultrasonography as a non-invasive method plays an important role in detecting chromosomal abnormalities.5 Chromosomal abnormality is a small probability event in pregnant women,but it seriously endangers the health of mother and baby,so attention should be paid to clinical screening. |
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