Study on Clinical Prognosis, Risk Factors and Genetic Basis of Congenital Heart Disease

Study Overview
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Brief Summary
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The objective of this study is to investigate the effect of parental peri-natal environmental risk factors and genetic factors on the development of Congenital Heart Disease (CHD). Our hypothesis is that the distributions of some environmental and genetic risk factors significantly differ between neonates with and without CHD.

Detailed Description
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Congenital heart defect (CHD) is one of birth defects in the structure of the heart and/or great vessels. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Heart defects are the leading cause of birth defect-related infant deaths. So far people recognize that the causes of CHD are the conjunct effect of environment and genetic factors, both of which remain unclear. The current stud aims at investigating all the possible perinatal parental environmental risk factors and underlying genetic factors to CHD, including DNA variation and methylations. A hospital-based 1:1 matched case control study is conducted. Subjects were recruited through neonatal screening program, which includes a clinical symptom screening followed by a cardiac ultrasound diagnosis for those with at least one clinical indicator. The blood sample of participant will be collected and the parents of subjects will be interviewed to completed a questionnaire including general information and possible risk factors to CHD.

Official Title
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Case-control Study on Environmental and Genetic Factors of Congenital Heart Disease

Conditions
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Congenital Heart Disease

Participation Criteria
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Eligibility Criteria
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case group Inclusion Criteria: Han ethnic 0 3 years old screened by 7 indicator, diagnosed by ultrasound Exclusion Criteria: with other brith defects with Patent Ductus Arteriosus (PDA) and Patent Foramen Ovale (PFO) Control group Inclusion Criteria: Han ethnic 0 3 years old without any of 7 screen indicator , without CHD heart palpitations and other complaints about heart disease, born in the same hospital with cases Exclusion Criteria: With other birth defects

Ages Eligible for Study
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Maximum Age: 3 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Congenital heart defect（CHD） group<br> | |
| Normal control group<br> | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| genome-wide DNA SNPs and methylations | DNA sample from neonate blood | delivery | 
| perinatal supplements and drug using | questionnaire including supplements and drug using for mother | three months before pregnancy till delivery | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Life risk factors of mother | smoking, drinking, health, family history | three months before pregnancy till delivery | 
| Life risk factors of father | smoking, drinking, health, family history | three months before pregnancy till delivery | 
| gestational weeks |  | delivery | 
| birth weight |  | delivery | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital heart disease, DNA variation, methylation, risk factors, supplements