Chromosome Analysis Of32Fetal Congenital Heart Diseases

BackgroundFetal congenital heart disease(FCHD) is the most common congenital malformation of childhood and is defined as abnormal development of heart and blood vessels in embryo with the result that defect of heart and cardiac vessels. In live births,the incidence of congenital heart disease is about0.5%-1%, and it up to3%in fetal death. If we consider about the intrauterine death and undiagnosed congenital heart disease,it will up to4%in total.In fetal with congenital heart disease,about20%-30%die in pregnancy duration, about40%-60%die in the neonatal period. For that reason, The congenital heart disease is one of the important factors influencing the perinatal outcome. The causes of congenital heart disease has not been clear, usually divided into:genetic factor, Environmental factors, interaction between heredity and environment. Congenital heart disease simply caused by environmental factors of accounts for only2%-5%of the total number,95-98%determined by genetic factors or related to genetic factors. Any abnormality of chromosome or gene, which is closely related to the process of heart development, can cause defect of heart and cardiac vessels during pregnancy. For this reason, the genetic research of fetal congenital heart disease can provide a reliable basis when prenatal diagnosis of CHD, helping clinicians chose the appropriate intervention measures so as to the incidence.ObjectiveBy analyzing the chromosome, to investigate the association between congenital heart disease and chromosome abnormalities. And decide if the malformation and ultrasonographic soft markers, complex congenital heart disease increase the risk of chromosome abnormality, whether fetal with VSD combined chromosomal abnormalities associated with the defect size of ventricular septal defect.Subjects and MethodsPatients with congenital heart diseases with or without other malformation and ultrasonographic soft markers who underwent chromosome examinations during Nov2005and Mar2013were recruited in the study. Selection the sample with cordocentesis and intracardiac puncture,then analysis the chromosome karyotypes with G banding method.The association between chromosome karyotypes and congenital heart diseases was analyzed.ResultsAmong the32patients with congenital heart diseases,12was found chromosome abnormalities, the incidence of chromosome anomaly is37.5%.(1)in the13cases of FCHD with other malformation and ultrasonographic soft markers,the incidence of chromosome anomaly is61.5%.and in the19cases without other malformation and ultrasonographic soft markers the incidence is21.05%,P>0.05.(2)in the11cases of complex congenital heart disease the incidence of chromosome anomaly is36.4%, in the21cases of isolated congenital heart disease the incidence is38.1%, P<0.05.(3) in24cases of ventricular septal defect, the mean diameter of the defect is4.7mm in FCHD with chromosome abnormality, and is2.8mm in chromosome normal cases, P>0.05.ConclusionsChromosome abnormalities are associated with fetal congenital heart diseases. Both malformation and ultrasonographic soft markers are increase the risk of chromosome abnormalities. Complex congenital heart disease does not increase the probability of chromosome abnormality.The diameters of septal defect in VSD fetal with chromosome abnormalities are large than without chromosome abnormalities.