Clinical Features And Cytogenetic Analysis Of 471 Cases Of Fetal Congenital Heart Disease

Objective: The clinical characteristics and genetic test results of 471 cases of congenital heart disease(CHD)were retrospectively analyzed to provide a reference for clinical management strategies and genetic counseling of fetal CHD.Methods: Pregnant women who underwent amniocentesis or umbilical vein puncture for prenatal diagnosis of fetal CHD in the Department of Reproductive Genetics,Hebei Provincial People’s Hospital between January 2009 and August 2022 were collected and divided into simple fetal CHD group,simple fetal CHD combined with extracardiac abnormalities group,complex fetal CHD group,and complex fetal CHD combined with extracardiac abnormalities group according to the complexity of intracardiac structural abnormalities and whether they were combined with other ultrasound abnormalities.The CHD group was divided into simple fetal CHD group,simple fetal CHD with extracardiac abnormalities group,complex fetal CHD group and complex fetal CHD with extracardiac abnormalities group.The basic data,other ultrasound manifestations,prenatal diagnosis results,pregnancy outcome and neonatal growth and development of the fetuses in the four groups were compared using statistical methods.Results:1.In 471 fetuses with prenatal diagnosis for CHD,the maternal age range was 18 to 45 years,with a mean age of(28.73 ± 4.80)years.The gestational weeks of the fetuses ranged from 20 to 28 weeks,with a mean gestational week of(26.91±1.96)weeks.2.The top 10 intracardiac structural abnormalities were Ventricular septal defect(VSD),right aortic arch,tetralogy of Fallot,tricuspid inferior valve malformation,left heart dysplasia syndrome,endocardial cushion defect,coronary sinus malformation,cardiac tumor,right heart dysplasia syndrome,and right and left pulmonary artery crossover,and the top 10 cases accounted for 65.60% of the cases in this study.Among the 471 fetal CHD cases,254 fetuses were combined with other ultrasound abnormalities,most commonly with central nervous system abnormalities,the most common type being choroid plexus cysts;after the central nervous system abnormalities,the most common ones were placental and umbilical cord developmental abnormalities,amniotic fluid abnormalities,and digestive system abnormalities.3.In this study,93 cases of chromosomal abnormalities were detected in 471 cases of fetal CHD,with an abnormality rate of 19.75%.Among them,11 cases of chromosomal abnormalities were detected in the simple CHD group,34 cases of chromosomal abnormalities were detected in the simple CHD combined with extracardiac abnormalities group,9 cases of chromosomal abnormalities were detected in the complex CHD group,and39 cases of chromosomal abnormalities were detected in the complex CHD combined with extracardiac abnormalities group.There were 10 cases of chromosome structure abnormalities.There were 75 cases of chromosome number abnormalities,38 cases of 47,XN,+18,26 cases of 47,XN,+21,3cases of 47,XN,+13,4 cases of sex chromosome number abnormalities,1case of sex chromosome combined with autosome number abnormalities,and 3 cases of chromosome chimerism.A total of 13 pregnant women underwent karyotype examination combined with FISH,and 37 pregnant women underwent karyotype examination combined with Bo Bs,and the results were consistent.The karyotype and SNP-array were performed simultaneously in 89 cases,and the results were consistent in 85 cases,with normal karyotype results in 4 cases and microdeletions in 3 cases and microduplications in 1 case.The karyotype examination combined with CNV-seq was also performed in 26 cases,of which 22 cases had consistent results,4 cases had normal karyotype results,and the CNV-seq results suggested the presence of microdeletions.In this study,44 cases of chromosomal abnormalities were detected in a total of 245 cases of simple fetal VSD,and the rate of chromosomal abnormalities was 17.96%.Among them,15 cases had 47,XN,+21;19 cases had 47,XN,+18;5 cases had abnormal sex chromosome number;4 cases had abnormal chromosome structure;1 case had normal karyotype and abnormal CNV-seq results.In this study,there were 53 cases of senior pregnant women,among which 16 cases had chromosomal abnormalities,and 418 cases of non-senior pregnant women,among which 77 cases had chromosomal abnormalities,and the incidence of chromosomal abnormalities in senior pregnant women was significantly higher than that in the non-senior pregnant women group.4.In this study,453 cases completed follow-up,166 were induced,273 were live births,7 were intrauterine deaths,and 7 were postnatal deaths.Conclusion:1.The most common type of fetal CHD is fetal VSD.fetal CHD is often combined with other ultrasound abnormalities,most commonly with central nervous system abnormalities;among non-central nervous system abnormalities,placental and umbilical cord developmental abnormalities are the most common,followed by amniotic fluid volume abnormalities.2.Fetuses with CHD have a high rate of chromosomal abnormalities,of which the most common type is chromosome number abnormality,with trisomy 18 being the most common.Karyotyping combined with SNP-array or CNV-seq analysis can improve the detection rate of chromosomal abnormalities in fetuses with CHD.The detection rate of chromosomal abnormalities in older pregnant women with combined CHD is higher.3.The prognosis for simple fetal CHD is good,while the prognosis for complicated fetal CHD and combined extracardiac anomalies is often poor.