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Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle
Xingyu Zhang1,2, Bo Wang2, Guoling You1
1Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Insights
This study found copy number variations (CNVs) in Chinese children with congenital heart disease (CHD). A significant link was observed between complete atrioventricular canal (CAVC) and Down syndrome (DS), highlighting diverse genetic causes for CHD.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Congenital heart disease (CHD) is a common birth defect.
- Copy number variations (CNVs) are significant genetic contributors to CHD.
- Research on genetic factors in specific CHD types like CAVC and SV is limited.
Purpose of the Study:
- To screen genome-wide CNVs in Chinese children with complete atrioventricular canal (CAVC) and single ventricle (SV).
- To identify genetic factors contributing to these specific CHD types.
- To investigate the correlation between CNVs and CAVC/SV in the Chinese population.
Main Methods:
- Genome-wide CNVs were screened in 262 sporadic CAVC cases and 259 sporadic SV cases using a customized SNP array.
- Detected CNVs were annotated and filtered using available databases.
- Analysis focused on identifying potentially-causative CNVs and their frequencies.
Main Results:
- Potentially-causative CNVs were identified in 16.41% of CAVC patients and 2.32% of SV patients.
- A high prevalence (90.70%) of 21q11.2-21q22.3 duplication (trisomy 21/Down syndrome) was found in CAVC patients with detected CNVs.
- CAVC with Down syndrome cases showed a female predominance and a high incidence of pulmonary hypertension (41.03%).
- Most identified CNVs were rare, except for the 21q11.2-21q22.3 duplication in the CAVC cohort.
Conclusions:
- This study identified 12 potentially-causative CNVs in a large cohort of Chinese CAVC and SV patients.
- A strong correlation between CAVC and Down syndrome was established, with observed sex differences and high pulmonary hypertension rates.
- The diverse etiology of complex CHD underscores the need for continued discovery of candidate genes.
Background:
Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs in Chinese children with complete atrioventricular canal (CAVC) and single ventricle (SV), since there were scarce researches dedicated to these two types of CHD.
Methods:
We screened CNVs in 262 sporadic CAVC cases and 259 sporadic SV cases respectively, using a customized SNP array. The detected CNVs were annotated and filtered using available databases.
Results:
Among 262 CAVC patients, we identified 6 potentially-causative CNVs in 43 individuals (16.41%, 43/262), including 2 syndrome-related CNVs (7q11.23 and 8q24.3 deletion). Surprisingly, 90.70% CAVC patients with detected CNVs (39/43) were found to carry duplications of 21q11.2-21q22.3, which were recognized as trisomy 21 (Down syndrome, DS). In CAVC with DS patients, the female to male ratio was 1.6:1.0 (24:15), and the rate of pulmonary hypertension (PH) was 41.03% (16/39). Additionally, 6 potentially-causative CNVs were identified in the SV patients (2.32%, 6/259), and none of them was trisomy 21. Most CNVs identified in our cohort were classified as rare (< 1%), occurring just once among CAVC or SV individuals except the 21q11.2-21q22.3 duplication (14.89%) in CAVC cohort.
Conclusions:
Our study identified 12 potentially-causative CNVs in 262 CAVC and 259 SV patients, representing the largest cohort of these two CHD types in Chinese population. The results provided strong correlation between CAVC and DS, which also showed sex difference and high incidence of PH. The presence of potentially-causative CNVs suggests the etiology of complex CHD is incredibly diverse, and CHD candidate genes remain to be discovered.
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