Clinical screening method and risk factors’ analysis of congenital cardiovascular defects: a case control study from a Chinese local region

Abstract

Congenital heart disease (CHD) is a serious threat to public health [1] and remains a leading cause of childhood morbidity and mortality. Unfortunately, CHD is common worldwide, with an incidence of approximately 1% and consequently is a major health concern [2]. Screen, followup, assessment, and intervention system of newborn CHD disease has not been established. Appropriate preoperative diagnosis and optimized perioperative treatment scheme can improve survival rate and life quality. About 80% of CHD is multifactorial and arises through various combinations of genetic and environmental contributors [3]. The definite mechanism is not yet clear and the primary prevention system has not be established.There are some reports illuminating various risk factors, such as maternal age drug application [4], and molecular pathways, but there is no consolidated answer. On the other hand, affected neonates of ethnic Han in China account for a high proportion for total patients in the world. The prevalence is seven to eight per 1,000 live births in China, which represents approximately 100,000 to 150,000 new cases of CHD per year [5]. However researches aiming at Chinese CHD morbidity are relatively less. The present study analyzed the correlation between many potential risk factors and the occurrence of the CHD. The authors hope this study can provide some evidence for the prevention of CHD. Materials and Methods Selection of participantsThe authors screened neonatal CHDs using eight clinical screening indexes (including family history of CHD, abnormal fetal heart Doppler ultrasound, dyspnea, cyanosis, special faces, cardiac auscultation, neonatal congenital malformations, and blood oxygen saturation) in 5,965 newborns and found 75 positive indexes cases (1.26%). Then 43 cases were diagnosed by echocardiography and 0.32 (5.36%) were diagnosed as CHD. The screened 43 cases were confirmed as CHD at the end of 12month follow-up (Figure 1, Table1).The authors chose 32 healthy cases as the control group and performed a retrospective cohort study involving the collection of data from a maternal and child health hospital in Taian. CHD diagnosis standard used Doppler ultrasound results as a diagnosis standard, arterial duct unclosed in three months or more, and oval foramen patency in one year or more.The following exclusion criteria [6] were used (group1): 1) diagnosed as syndromic CHD caused by gene mutation or chromosomal aberration; 2) patient's natural parents dead or natural mother dead; 3) patient's natural parents divorced; 4) patient's natural parents or mother not present; 5) unwillingness to accept investigation; 6) presence of abnormalities in other organsThe control group (group 2) was matched to the study group by the following criteria:1) the same sex; 2) age (± one year); 3) without CHD or any other birth defects by unified diagnosis