Antenatal Fetal Chromosomal Disease Screening Strategy And Application

Objectives To compare the detection efficiency of 4 prenatal screening methods in screening of common fetal chromosomal diseases, and evaluate the clinical feasibili ty of applying serum and ultrasound screening combined with cff DNA prenatal testi ng(Cell free fetal DNA) in common fetal chromosomal diseases. To solve the defec t of low screening and diagnosing rate of fetal chromosomal diseases in clinical pra ctice, provide experimental data for the improvement and enhancement of clinical p renatal screening methods. To evaluate economic benefits of the 4 different screenin g methods through activity analysis, and provide reference for reasonable choice of prenatal screening methods.Methods We made screening for common fetal chromosomal disorders in prearran gement who received periodic pregnancy testing and prenatal screening.We used ser um screening method in serum screening group,ultrasound measurements in ultrasou nd screening group, serum triple tests combined with ultrasound screening in serum combined with ultrasound screening group, and serum screening and ultrasound scr eening combined with cff DNA prenatal testing. Pregnant women with negative scree ning results continued pregnancy and received regular pregnancy testing, and the on es with positive screening results received prenatal diagnosis to confirm the diagnos is of fetal chromosomal abnormalities. We made followup to all pregnant women w ho received prenatal screening till 6 months after childbirth. Using neonatal abnorm ality or prototype as diagnostic criteria, we analyzed the screening results, authentici ty and cost-effectiveness of the 4 screening methods.Results Method A had a diagnostic coincidence rate of 94.98%, a false positive r ate of 5.00%, ROC area under the curve to be 0.904, standard error of 0.054, 95% with confidence interval of 0.780~1.000, P=0.000, sensitivity of 85.71%, specif icity of 95.00%,Youden index of 0.81, positive predictive value of 2.85%, negative predictive value of 99.97%, The costs of screening one case of fetal chromosomal abnormality by method A was 444,950.00 Yuan, the total economic burden of child ren missed was 7,698,9141.67 yuan. Method B had a diagnostic coincidence rate of94.89%, a false positive rate of 5.08%, ROC area under the curve to be 0.859, sta ndard error of 0.069, 95% with confidence interval of 0.724~0.994,P=0.000, sen sitivity of 76.92%, specificity of 94.92%,Youden index of 0.52, positive predictive value of 2.51%,negative predictive value of 99.96%, The costs of screening one cas e of fetal chromosomal abnormality by method A was 587,150.00 the total economi c burden of children missed was 7,698,9141.67 yuan. Method C had a diagnostic c oincidence rate of 95.44%, a false positive rate of 4.71%,ROC area under the curve to be 0.924, standard error of 0.041, 95% with confidence interval of 0.839~1.000,P=0.000, sensitivity of 89.47%, specificity of 95.29%, Youden index of 0.59,po sitive predictive value of 3.20%, negative predictive value of 99.98%,The costs of s creening one case of fetal chromosomal abnormality by method A was 363,633.50 Yuan,the total economic burden of children missed was 8,798,790.48 yuan. Method D had a diagnostic coincidence rate of 99.97%, a false positive rate of 0.02%, RO C area under the curve to be 0.958, standard error of 0.033, 95% with confidence interval of 0.000~1.000,P=0.000, sensitivity of 91.67%, specificity of 99.98%, Y ouden index of 0.92, positive predictive value of 91.67%, negative predictive value of 99.98%, The costs of screening one case of fetal chromosomal abnormality by method A was 458,566.73 Yuan, the total economic burden of children missed was2,199,697.62 yuan.Conclusions In 4 screening methods,Serum and ultrasound screening combined wit h cff DNA prenatal screening had low false positive rate, high sensitivity, high speci ficity,high Screening efficiency,which confirmed the feasibility of cff DNA technique in screening fetal chromosomal diseases prenatally in clinical practice,it was the m ost suitable method in prenatal screening comparatively more in line with local situ ation.