Guidance value of single nucleotide polymorphism array analysis technol-ogy for induction of labor in pregnant women with chromosomal frag-ment deletion
Objective To analyze the sensitivity and accuracy of single nucleotide polymorphism array(SNP-array)in the diagnosis of fetal chromosome deletion,and to explore its clinical guiding value in the selection of induction of labor.Meth-ods From January 2020 to May 2022,the clinical data of 1 007 pregnant women with prenatal diagnosis indications such as advanced age,adverse pregnancy history and abnormal ultrasound examination in Pingxiang Maternal and Child Health Hospital were retrospectively analyzed.All pregnant women underwent chromosome karyotype analysis,and SNP-array technology was used to complete fetal genetic diagnosis.According to the diagnosis results,the pregnant women were pro-vided with relevant knowledge about the harm of chromosome deletion to the growth and development of their children,and the parents made the choice of induction or continuation of pregnancy.Using karyotype analysis as the gold standard,the sensitivity and accuracy of SNP-array in the diagnosis of fetal chromosomal abnormalities were calculated.The clinical value of SNP-array in the diagnosis of chromosomal fragment deletion and the guiding value of induction of labor were analyzed.Results Chromosomal abnormalities were detected in 73 cases(7.25％).SNP-array confirmed 108 cases(10.72％)of chro-mosomal abnormalities,including 26 cases(2.58％)of chromosomal fragment deletion.Among the 26 cases with chromo-some fragment deletion,15 cases were terminated and 11 cases continued pregnancy and gave birth to children.SNP-array had an accuracy of 91.36％,a sensitivity of 64.38％,and a specificity of 93.47％in detecting chromosomal abnormal-ities,with a Kappa value of 0.474.In the diagnosis of chromosomal deletion,the accuracy,sensitivity and specificity of SNP-array were 97.91％,100.00％and 97.90％,respec-tively,and Kappa value was 0.317.Conclusion SNP-array is better than conventional karyotyping in the diagnosis of fetal chromosomal fragment deletion,and has high clinical value in improving pregnancy outcomes.However,the consistency and sensitivity of SNP-array are poor,and SNP-array cannot replace karyotyping alone.Therefore,the two methods should be used together to improve the quality of diagnosis.
万方数据
维普
