Application Of Microdeletion And Microduplication Syndromes Detection Based On Next Generation Sequencing In The Prenatel Diagnosis

Objective: Based on the application of next generation sequencing in prenatal diagnosis,To investigate the necessity of microdeletion and microduplication syndromes in prenatal diagnosis.Methods: A total of 522 cases of pregnant women with prenatal diagnosis of amniotic fluid or cord blood were collected at the Prenatal Diagnostic Center of Chenzhou first people's hospital from June 1,2015 to June 1,With the medical ethics committee informed consent,According to gestational age need to obtain fetal amniotic fluid or cord blood specimens under the B-positioning,At the same time chromosome G band karyotype analysis and a new generation of high-throughput sequencing,and the test results were analyzed.Results:In 522 pregnant women,chromosomal G-banding k aryotype analysis was used to detect chromosomal abnormalities 23,The positive rate was 4.41%(23/522),All the 23 cases detected were abnormal chromosomal number,21-trisomy in 17 cases(3.26%,17/522),18-trisomy in 2 cases(0.38%,2/522),13-trisomy in 1 cases(0.19%,1/522),3 cases of sex chromosome abnormalities?43 cases of chromosomal abnormalities were detected by high-throughput sequencing(8.24%,43/522).Among the 43 cases of chromosomal abnormalities,20 cases were found to be microdeletions of micrometastasis syndrome,23 cases of chromosome abnormalities,Chromosome aneuploidy detected cases and chromosome G banding karyotype analysis results.Conclusions:(1)In prenatal diagnosis should pay attention to the detection of microdeletion and microduplication syndromes.(2)For those with abnormal prenatal ultrasound soft index,microdeletion and microduplication syndromes Higher rates.In prenatal diagnosis,more attention should be paid to the detection of microdeletion and microduplication syndromes of pregnant women with abnor mal prenatal ultrasound soft index.