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

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

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.

Study Overview

• Status: Completed
• Conditions: Congenital Heart Disease

Detailed Description

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.

• Study Type: Observational
• Enrollment (Anticipated): 6000

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 201102
      • Children Hospital of Fudan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 3 years (Child)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The population is from two ongoing projects- "Key Clinical Research Project Sponsored by Ministry of Health Screening, evaluation and intervention of congenital heart disease in newborn infants(2010-239)" and "Health and Public Welfare Research Project Sponsored by Ministry of Health of China Screening and evaluation of congenital heart disease in children of under 3 years old in the countryside(20102006)"

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Normal control group
Congenital heart defect（CHD） group

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University
• Collaborators: Changzhou Maternal and Child Care Hospital; The First Affiliated Hospital of Xiamen University; Maternal and Child Health Hospital, Jiading District; Ningbo Women & Children's Hospital; Kunshan City Maternal and Child Health; Maternal and Child Health Hospital of Taian; Maternal and Child Health Hospital of Wuxi; Minhang Maternal and Children Health Care Hospital

Study record dates

Study Major Dates

• Study Start: October 1, 2011
• Study Completion (Actual): August 1, 2014

Study Registration Dates

• First Submitted: August 16, 2012
• First Submitted That Met QC Criteria: August 17, 2012
• First Posted (Estimate): August 20, 2012

Study Record Updates

• Last Update Posted (Estimate): March 11, 2015
• Last Update Submitted That Met QC Criteria: March 9, 2015
• Last Verified: March 1, 2015

More Information

Terms related to this study

• Keywords: risk factors; supplements; Congenital heart disease; methylation; DNA variation
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Diseases; Heart Defects, Congenital
• Other Study ID Numbers: KY2011-366