Pediatric Cardiac Genetics Consortium (PCGC)

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.]]>
Inclusion criteria: Prenatal - 109 years of age Males and females No ethnic or race restrictions Sporadic and familial cases are included Pregnant women who have a fetus with diagnosed CHD Exclusion Criteria: Isolated patent foramen ovale Isolated prematurity-associated patent ductus arteriosus Lack of consent ]]>
November 2010: First study visit November 2011: First annual follow-up visit for probands =< 1 yr July 2013: dbGaP data release of 1,955 subjects September 2014: dbGaP addendum data of additional 1,325 subjects January 2016: dbGaP addendum data of additional 2,985 subjects]]>

本研究为针对先天性心脏病（congenital heart defects, CHD）患者的多中心前瞻性观察队列研究。研究将收集10000名先证者、其父母及目标家庭的表型数据与基因组DNA样本，旨在探究先天性心脏病患者的遗传因素与表型及临床结局之间的关联。

纳入标准：年龄覆盖产前至109岁；男女不限；无种族或族裔限制；纳入散发性及家族性病例；纳入胎儿确诊为先天性心脏病的孕妇。
排除标准：孤立性卵圆孔未闭；孤立性早产相关性动脉导管未闭；未签署知情同意书。

研究时间节点如下：
2010年11月：首次研究访视
2011年11月：针对≤1岁先证者的首次年度随访
2013年7月：发布1955名受试者的dbGaP数据
2014年9月：追加发布1325名受试者的dbGaP补充数据
2016年1月：追加发布2985名受试者的dbGaP补充数据