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Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

Journal of Perinatology (2024)Cite this article

Subjects

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.

Author information

Author notes

  1. These authors contributed equally: Erica E. D’Souza, Tina O. Findley, Rachel Hu.

Authors and Affiliations

  1. Division of Newborn Medicine, Boston Children’s Hospital, Boston, MA, 02115, USA

    Erica E. D’Souza, Rachel Hu, Zahra S. H. Khazal, Rachel Signorello, Camille Dash, Alissa M. D’Gama, Henry A. Feldman, Pankaj B. Agrawal, Monica H. Wojcik & Sarah U. Morton

  2. Division of Neonatal-Perinatal Medicine, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston and Children’s Memorial Hermann Hospital, Houston, TX, 77030, USA

    Tina O. Findley

  3. Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA

    Alissa M. D’Gama, Henry A. Feldman, Pankaj B. Agrawal, Monica H. Wojcik & Sarah U. Morton

  4. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA, 02115, USA

    Pankaj B. Agrawal, Monica H. Wojcik & Sarah U. Morton

  5. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, 02115, USA

    Pankaj B. Agrawal & Monica H. Wojcik

  6. Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children’s Hospital, Jackson Health System, Miami, FL, USA

    Pankaj B. Agrawal

  7. Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children’s Hospital, Boston, MA, 02115, USA

    Sarah U. Morton

Authors
  1. Erica E. D’Souza
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Contributions

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.

Corresponding author

Correspondence to Sarah U. Morton.

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Competing interests

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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