Association Study On Prenatal Diagnosis Of Fetal Congenital Heart Disease

Objective: The paper is to study the association between fetal congenital heart disease(CHD) and chromosome abnormality, discuss the relationship between fetal congenital heart disease and Down’s screening value at risk, evaluate the relationship between mid pregnancy serum marker(AFP, β-HCG and u E3) and fetal congenital and the diagnosis value of the former.Method: Choose totally 169 cases that have been actually diagnosed as fetal congenital heart disease through fetal echocardiography at mid pregnancy and who were accepted chromosome examination at XX hospital during January 2010 to March 2014 as the case group. Over the same period to conduct 1:2 match in accordance with conception and gestational age, the matched group is 338 cases in total. The case group is divided into simple CHD and complex CHD according to complexity degree of CHD; extracardic malformation group and merged extracardic malformation group based on whether it’s merged extracardic malformation, CTD group and non-CTD group according to whether it’s contruncal defects, the paper makes comparison of chromosome abnormality occurrence rate and high-risk rate of Down’s screening; as well as analyzes serum marker variation of the parent body at mid pregnancy for case group and comparison group.Result: 1. Chromosome abnormality rate of extracardic malformation group is typically higher than the group without extracardic malformation(P<0.05). Amount of extracardic organs abnormality is directly related to chromosome abnormality rate(P<0.05,r=0.452). Chromosome abnormality rate of complex CHD group is significantly higher than that of simple CHD group(P<0.05). 2. Proportion of Down syndrome high risk for merged extracardic malformation CHD group is significantly greater than CHD group that without merged extracardic malformation and normal matched group(P<0.05); proportion of Down syndrome high risk in simple CHD and complex CHD group has no significant difference. Level of average HCG and AFP at maternal mid pregnancy for CHD group is higher than that of matched group, level of average u E3 is lower than that of matched group(P<0.05). The number of whose HCG MOM、AFP MOM ≥85%th and u E3 MOM≤15%th in CHD group is bigger than matched group. HCG MOM、AFP MOM ≥85%th and u E3 MOM≤15%th at mid pregnancy can increase the occurrence risk of fetus CHD and even CCHD, the ORs are respectively 2.77, 3.63 and 12.91,the 95%CIs are respectively(1.37,5.63),(1.81,7.27) and(0.03,0.62)。Conclusion: 1. Chromosome abnormality represents an important position in the cause of congenital heart disease. Fetus CHD with merged extracardic malformation and patients who have complex CHD should pay attention to exclude chromosome abnormality of fetus. 2. Down syndrome high risk proportion indicates the risk increase of occurrence for fetus intracardic and extracaridc malformation. Patients at greatest risk of Down syndrome should be advised to strengthen the detailed examination for heart as extracardic system as well as malformation exclusion examination of other systems. 3. The genesis of fetus CHD is related with abnormal maternal serum markers. HCG MOM、AFP MOM ≥85th、u E3 MOM≤15th are independent risk factors for fetal CHD,especially CCHD.Combine serum screening and ultrasonic examination can improve prenatal diagnosis of fetus CHD.