A retrospective analysis of 7154 cases of noninvasive prenatal screening in Xiamen region
Objective To explore the application value of noninvasive prenatal testing(NIPT)in prenatal screening of pregnant women.Methods A total of 7154 NIPT results collected from various hospitals from January 2022 to December 2022 by the Clinical Laboratory Department of the First Affiliated Hospital of Xiamen University were retrospectively analyzed.For pregnant women with abnormal results,it was recommended to have further genetic consultation,prenatal diagnosis,and telephone follow-up for their pregnancy outcomes.Results Among 7154 pregnant women who underwent NIPT,15 cases were suggested to be at high risk of trisomy 21 syndrome(T21),trisomy 18 syndrome(T18)and trisomy 13 syndrome(T13),of which 9 cases were confirmed,the composite detection rate was 100.00%,and the composite positive predictive value was 60.00%.The sensitivity and specificity of NIPT for T21,T18 and T13 were 100.00%and 99.92%respectively.Conclusion The application of NIPT in the screening of T21,T18 and T13 has a high comprehensive detection rate,especially the highest detection rate for T21,and also has a high suggestive value for T18,T13 and sex chromosome abnormalities.Compared with amniocentesis,NIPT has less trauma,higher accuracy and is easily accepted by patients,and can be used as an effective auxiliary means for prenatal screening of pregnant women.
万方数据
维普
