Prenatal Diagnosis And Pregnancy Outcome Of Fetal Congenital Heart Disease

Objective To investigate the prenatal ultrasound diagnosis,genetic testing and pathological diagnosis of fetal congenital heart disease(CHD),analyze the pregnancy outcome and prognosis of live births of fetal CHD,and explore the value of Multidisciplinary Joint consultation,so as to provide evidence for the integrated management of fetal CHD during perinatal period.Methods 1492 fetuses with prenatal-ultrasound-diagnosed CHD in the second trimester of pregnancy in Fujian Maternal and Child Health Hospital from January 2012 to January 2017were enrolled in this study.They were divided into 4 groups according to the degree of complexity of the deformity and the situation whether they were combined with extracardiac abnormalities.Simple styles of CHD in group A were not combined with extracardiac abnormality,simple styles of CHD in group B were combined with extracardiac abnormality,complex styles of CHD in group C were not combined with extracardiac abnormality,and complex styles of CHD in group D were combined with extracardiac abnormality.A+B combination is called simple type CHD.C+D combination is called complex type CHD.Some cases of CHD were tested by genetics,and some cases of terminating pregnancy were dissected by pathology or cast specimen.According to the different conditions whether operations could be performed,the live-born infant were divided into two groups:operative group and observation group.Through analyzing the classification of prenatal ultrasound diagnosis,the result of genetic test,comparing results of pathological diagnosis and ultrasound,the differences of fetal pregnancy outcome and the prognosis of live-born infants in each group,the value of multidisciplinary consultation of fetal CHD would be explored.Results1.All of the cases were separated into four groups:Group A(n=445),Group B(n=236),Group C(n=583),Group D(n=228).The top ten diseases were ventricular septal defect,tetralogy of Fallot,vascular ring,atrioventricular septal defect,coarctation of the aorta,visceral heterotopic syndrome,pulmonary artery stenosis,double outlet right ventricle,transposition of the great arteries,atresia of pulmonary arteries,accounting for 82.8%of the cases in this study.2.The pregnancy outcome is as follow.the number of follow-up respectively were:A(n=344),B(n=222),C(n=454),D(n=215).The termination rate of pregnancy in group A,B,C and D were12.21%,71.62%,85.02%and 91.16%respectively,which increased in turn(Ptend<0.001).The survival rate of ongoing pregnancy was 98.67%,85.71%,67.65%and 36.84%respectively,which decreased in turn(Ptend<0.001).3.Fetal CHD received interventional prenatal diagnosis in 235 cases,in which 48 cases were diagnosed as abnormal chromosome,40 cases with chromosome number abnormality and 8cases with chromosome microdeletion.The rate of chromosomal abnormality in group B and D was obviously higher than that in group A and C(P<0.05).There was no obvious difference in chromosome abnormality rate between simple CHD and complex CHD(χ2=2.241,P=0.134).4.By comparing the diagnostic results of CHD pathological anatomy or cast specimen with those prenatal ultrasounds,the accuracy rate of prenatal ultrasound of complex CHD was 90.50%and the misdiagnosis rate was 9.50%.Pathological anatomy showed that the mainly misdiagnosis of ultrasound were mainly in pulmonary atresia,heterotaxy syndrome,left ventricular dysplasia syndrome,valvular disease.Cast specimen showed that the misdiagnosis of ultrasound were mainly in the major artery branch abnormality and anomalous return of body and pulmonary vein.5.27 cases of complex CHD,such as tetralogy of Fallot,atrioventricular septal defect,constriction of aortic arch,transposition of great artery,double outlet of right ventricle,pulmonary atresia and interruption of aortic arch,were treated with cardiac surgery after birth.The follow-up was from 5 months to 4 years(6 cases of death),and the survival rate was77.78%.At present,the growth and development is good,such as some cases of tetralogy of Fallot,atrioventricular septal defect,coarctation of the aortic arch,transposition of the great artery,double outlets of right ventricle,pulmonary atresia and the interrupted aortic arch achieved good outcomes.38 cases of simple CHD were treated with cardiac surgery after birth.They were followed up from 5 months to 4 years(3 cases died),and the survival rate was92.10%.The growth is and development is good presently.The results of the postoperative diagnosis of the operative group and the results of the reexamination of observation group in live-born infants showed that the diagnostic accuracy rate of prenatal ultrasound in fetal simple type CHD was 98.68%,and that of fetal complex CHD 91.66%.6.651 cases(43.6%)of fetal CHDs participated in the multidisciplinary joint consultation.Four group percentage respectively were:A(11.0%),B(31.3%),C(53.9%),D(90.8%).Compared with the cases that did not participate in the joint consultation,the rate of the termination of pregnancy in the four groups of the patients participating in the joint consultation decreased.The rate of termination of pregnancy in group B and group C was significantly decreased(P<0.001),and the difference was statistically significant.The rate of termination of pregnancy in group A and group D also decreased,but the difference was not statistically significant.(P=0.106、P=0.386~a)ConclusionsUltrasound is the most important method to diagnose fetal CHD currently.The accuracy of prenatal ultrasound diagnosis of simple type CHD was 98.68%,while that of complex type CHD was 90.50%~91.66%.1.The fetal CHD were suggested the interventional prenatal diagnosis to exclude chromosomal abnormalities.Simple type CHD has a good prognosis and it is recommended to continue the pregnancy actively.The fetal prognosis of complicated CHD varies greatly,and it should be analyzed individually,and the termination of it should be carefully decided.2.The local pathological anatomy of fetal CHD and the establishment of cast specimens are effective methods to verify prenatal ultrasound diagnosis.Local pathological anatomy can accurately diagnose intracardiac malformation.Cast specimens are superior in the diagnosis of the major artery branch abnormality and anomalous return of body and pulmonary vein.The combination of the two can effectively find and correct the missed diagnosis and misdiagnosis information of prenatal ultrasound diagnosis,and provide real sample materials for clinical and teaching.3.Multidisciplinary joint consultation is an effective method in perinatal management of fetal CHD.According to synthesize the ultrasonic imaging,fetal genetics test results and the maternal clinical information,the risk stratification was evaluated,prognosis consultation was carried out,and prenatal and perinatal management plans were put forward.And then the postnatal treatment and care paths were provided for the fetal CHD.promote the construction of the fetal CHD perinatal and integrated management model.