Value of four-dimensional ultrasound STIC combined with SNP array technology in prenatal screening of fetal cardiac developmental abnormalities at 24-28 weeks of pregnancy
Objective To investigate the diagnostic efficacy of four-dimensional ultrasound spatio-tem-poral image correlation(STIC)combined with single nucleotide polymorphism microarray(SNP array)in fetal cardiac malformations at 24-28 weeks of pregnancy.Methods Totally 245 cases of pregnant women at 24-28 weeks of gestation who underwent pregnancy examination in the Fifth Clinical Medical College of Henan University of Chinese Medicine from May 2021 to December 2023 and suggested that there might be fetal heart malformation were selected,and all of them were underwent four-dimensional ultrasound STIC examination,then the fetuses were further examined by SNP array technique.In addi-tion,the results of autopsy pathological biopsy of induced labor or stillbirth fetus or echocardiography of live birth newborn were regarded as the"gold standard",and the efficacy of four-dimensional ultrasound STIC technology and it combined with SNP array technique in screening fetal cardiac developmental abnormalities were analyzed.Results Among the 245 suspected pregnant women,60 cases were confirmed to have cardiac malformation by autopsy of induced labor or stillbirth and echocardiography of live birth newborns.By four-dimensional ultrasound STIC technology examination,there were 55 cases of fetal cardiac malformation.Compared with the"gold standard",the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of four-dimensional ultrasound STIC technology in diagnosing fetal cardiac malformations were 85.00％,97.84％,94.69％,92.73％and 95.26％respectively.The SNP array technology was fur-ther performed of fetuses,and the detection rate of copy number variation(CNV)was 10.20％(25/245),and the detec-tion rate of pathogenic CNV was 56.00％(14/25),and the detection rate of CNV with unclear clinical significance was 28.00％(7/25)and that of benign CNV was 16.00％(4/25).The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of four-dimensional ultrasound STIC combined with SNP array technology in diagno-sing fetal cardiac malformations were 96.67％,98.38％,97.96％,95.08％and 98.91％respectively,and the sensitivi-ty,accuracy,positive predictive value and negative predictive value of combined diagnosis were higher than those of four-dimensional ultrasound STIC technology for individual diagnosis,while the specificity of combined diagnosis was basically equivalent to that of four-dimensional ultrasound STIC technology for individual diagnosis.Conclusion The diagnostic efficiency of four-dimensional ultrasound STIC combined with SNP array technology for fetal cardiac malformation at 24-28 weeks of gestation is higher,which can improve the diagnostic accuracy.
NETL
NSTL
万方数据
