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Published on: February 21, 2015
Chromosome microarray analysis in the investigation of children with congenital heart disease
Xiao-Li Wu1, Ru Li1, Fang Fu1
1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangdong, China.
Insights
Chromosome microarray analysis (CMA) significantly improves the genetic diagnosis of congenital heart disease (CHD) in children. This method is particularly effective for identifying pathogenic copy number variations in children with CHD, especially those with intellectual disabilities/developmental delay.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Genomic Medicine
Background:
- Congenital heart disease (CHD) presents a significant diagnostic challenge, particularly in cases with normal karyotypes.
- Understanding the genetic underpinnings of CHD is crucial for accurate etiological diagnosis and clinical management.
Purpose of the Study:
- To evaluate the clinical utility of chromosome microarray analysis (CMA) for the genetic etiological diagnosis of pediatric congenital heart disease (CHD).
- To determine the diagnostic yield of CMA in children with CHD, with or without additional congenital anomalies or developmental delays.
Main Methods:
- Investigated 104 children with CHD using Affymetrix CytoScan HD array.
- Included children with normal karyotypes, with or without multiple congenital anomalies (MCA) or intellectual disabilities/developmental delay (ID/DD).
Main Results:
- Identified pathogenic copy number variations (PCNVs) in 27.9% of children with CHD.
- Higher detection rates of PCNVs were observed in children with CHD plus ID/DD (63.2%) compared to isolated CHD (17.9%).
- Identified potential CHD-associated loci (15q11.2 deletion, 1q43-q44 deletion) and candidate genes (DVL1, SKI, STIM1, CTNNA3, PLN).
Conclusions:
- CMA enhances diagnostic rates and improves etiological diagnosis in children with CHD.
- Recommended as a first-tier genetic test for children with CHD, particularly those with co-occurring ID/DD.
Background:
Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
Methods:
A total of 104 children with CHD with or without multiple congenital anomalies (MCA) or intellectual disabilities/developmental delay (ID/DD) but normal karyotype were investigated using Affymetrix CytoScan HD array.
Result:
Pathogenic copy number variations (PCNVs) were identified in 29 children (27.9%). The detection rates in children with simple CHD and complex CHD were 31.1% (19/61) and 23.2% (10/43), respectively. The detection rates of PCNVs were 17.9% (7/39), 20% (5/25), 63.2% (12/19) and 23.8% (5/21) in isolated CHD, CHD plus MCA, CHD plus ID/DD, CHD plus MCA and ID/DD, respectively. The PCNVs rate of CHD plus ID/DD was significantly higher than that of isolated CHD. Two genomic loci including 15q11.2 deletion and 1q43-q44 deletion were considered as CHD locus. The DVL1, SKI, STIM1, CTNNA3 and PLN were identified as candidate genes associated with CHD phenotypes.
Conclusion:
CMA can increase the diagnostic rate and improve the etiological diagnosis in children with CHD. We suggest CMA as a first-tier test in children with CHD, especially in children with CHD plus ID/DD.
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