Early Prediction Methods Research of Fetal Chromosomal Diseases in Prenatal Diagnosis Based on Karyotype Analysis and CMA
Objective To study early predictive value of karyotype analysis and chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal chromosomal diseases in obstetrics.Methods The paper reviewed and analyzed 431 pregnant women with prenatal examinations and amniocentesis in our obstetrics department from December 2021 to December 2022,analyzed karyotypes and CMA.Results All 431 pregnant women in study were successfully punctured and completed cell culture,with success rate of 100%.Follow up of pregnant women after surgery revealed,39 cases were lost to follow-up for automatic phone interception,rejection,shutdown,and incorrect phone numbers.1 case developed fever after surgery,and 1 case experienced vaginal bleeding on the same day after examination.After hospitalization in our hospital,there was no problem.1 case turned red on the third day after surgery,with incidence rate of adverse events of 0.77%.There were no cases of miscarriage.Out of 431 examination results,38 cases showed chromosomal abnormalities,with detection rate of 8.82%.Among them,there were 9 cases with abnormal numbers,accounting for 23.68%.There were 29 cases of structural abnormalities,accounting for 76.32%.Further analysis showed abnormalities were mainly concentrated on chromosomes 12,13,14,15,18,21,as well as X and Y chromosomes.Types of abnormalities included standard type(21 trisomy),translocation type,microstructural abnormality type,etc.There were 4 cases of chromosomal abnormalities in one spouse,1 case of fetal chromosomal abnormalities was detected,with detection rate of 25%.There were 72 cases aged≥35,and 1 case of fetal chromosomal abnormality was detected,with detection rate of 1.39%.Conclusion Karyotype analysis combined with CMA technology can improve detection rate of abnormalities,clarify source of pathogenic fragments,and provide scientific and reliable basis for prenatal diagnosis and genetic counseling,which is safe and reliable.
万方数据
维普
