Abstract
Objective
To evaluate patterns of genetic testing among infants with CHD at a tertiary care center.
Study design
We conducted a retrospective observational cohort study of infants in the NICU with suspicion of a genetic disorder. 1075 of 7112 infants admitted to BCH had genetic evaluation including 329 with CHD and 746 without CHD. 284 of 525 infants with CHD admitted to CMHH had genetic evaluation. Patterns of testing and diagnoses were compared.
Results
The rate of diagnosis after testing was similar for infants with or without CHD (38% [121/318] vs. 36% [246/676], p = 0.14). In a multiple logistic regression, atrioventricular septal defects were most high associated with genetic diagnosis (odds ratio 29.99, 95% confidence interval 2.69–334.12, p < 0.001).
Conclusions
Infants with suspicion of a genetic disorder with CHD had similar rates of molecular diagnosis as those without CHD. These results support a role for genetic testing among NICU infants with CHD.
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Data availability
The datasets generated during and/or analysed during the current study are not publicly available due confidentiality but are available from the corresponding author on reasonable request.
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Acknowledgements
We would like to thank the infants, families, and providers in the BCH and UT NICUs.
Funding
SUM was supported by an American Heart Association Career Development Award and NIH/NHLBI R03HL150412 and K08HL157653. MW was supported by NIH/NICHD K23HD102589.
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TOF, PBA, MW and SUM conceptualized this work. EED, TOF, RH, ZSHK, RS, DS, AMD, HAF, MW and SUM participated in the acquisition and analysis of data. EED, TOF, RH, AMD, HAF, PBA, MW and SUM interpreted the data and results. EED, TOF, RH, ZSHD, AMD, PBA, MW and SUM drafted the manuscript. All authors critically reviewed the work for important intellectual content and approved the final version. Each author is accountable for their contribution to the manuscript, including related to the accuracy and integrity of the work.
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MW has received compensation for consultation to GeneDx, Illumina, and Sanofi. The other authors declare no competing financial interests in relation to the work described.
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D’Souza, E.E., Findley, T.O., Hu, R. et al. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol (2024). https://doi.org/10.1038/s41372-024-01935-1
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DOI: https://doi.org/10.1038/s41372-024-01935-1
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