ArticleCongenital heart disease
Current Practice and Utility of Chromosome Microarray Analysis in Infants Undergoing Cardiac Surgery.
Article in Congenital heart disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.Life (Basel, Switzerland) · 2026Article
- Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects.Circulation. Genomic and precision medicine · 2026Article
- Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.Circulation. Genomic and precision medicine · 2025Article
- Article
- Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.Research square · 2024Article
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects.The Journal of pediatrics · 2023Article
- Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circulation. Genomic and precision medicine · 2023Article
- A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.Genetics in medicine open · 2023Article
- Abnormal Microarray, Clinical Outcomes, and Surgical Risk Scores in Young Children with Cardiac Disease.Pediatric cardiology · 2021Article
- Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.European journal of pediatrics · 2021Article
- Article
- Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.The Journal of pediatrics · 2018Article
- Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.Current cardiology reports · 2017Review
- The importance of copy number variation in congenital heart disease.NPJ genomic medicine · 2016Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTraditionally, karyotype and fluorescence in situ hybridization (FISH) were used for cytogenetic testing of infants with congenital heart disease (CHD) who underwent cardiac surgery at our institution. Recently, chromosome microarray analysis (CMA) has been performed in lieu of the traditional tests. A standardized approach to cytogenetic testing does not exist in this population. The purpose of this study was to assess the utility of CMA based on our current ordering practice.
designWe reviewed the records of all infants (<1 year old) who underwent cardiac surgery at our institution from January 2010 to June 2013. Data included results of all cytogenetic testing performed. Diagnostic yield was calculated as the percentage of significant abnormal results obtained by each test modality. Patients were grouped by classification of CHD.
resultsTwo hundred seventy-five (51%) of 535 infants who underwent cardiac surgery had cytogenetic testing. Of those tested, 154 (56%) had multiple tests performed and at least 18% were redundant or overlapping. The utilization of CMA has increased each year since its implementation. The diagnostic yield for karyotype, FISH and CMA was 10%, 12%, and 14%, respectively. CMA yield was significantly higher in patients with septal defects (33%, P = .01) compared with all other CHD classes. CMA detected abnormalities of unknown clinical significance in 13% of infants tested.
conclusionsIn our center, redundant cytogenetic testing is frequently performed in infants undergoing cardiac surgery. The utilization of CMA has increased over time and abnormalities of unknown clinical significance are detected in an important subset of patients. A screening algorithm that risk-stratifies based on classification of CHD and clinical suspicion may provide a practical, data-driven approach to genetic testing in this population and limit unnecessary resource utilization.
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