J Perinatol
. 2026 May 28.
doi: 10.1038/s41372-026-02716-8. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/42209699/
Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation
Nicholas R Carr 1 2, Makenzie L Fulmer 3, Jennifer Rumpel 4, Abhishek Makkar 5, Burhan Mahmood 6, Sarah Keene 7, Natalie Rintoul 8, K Taylor Wild 8, Amir Ashrafi 9, Semsa Gogcu 10, Carrie Rau 11, David Pattison 3, Hunter Best 3, Steven E Boyden 12, Rong Mao 3, Luca Brunelli 11
Affiliations Expand
- PMID: 42209699
- DOI: 10.1038/s41372-026-02716-8
Abstract
Objective: To evaluate the feasibility and diagnostic yield of universal genome sequencing (GS) in infants receiving extracorporeal membrane oxygenation (ECMO).
Study design: Prospective multicenter study across eight Children’s Hospital Neonatal Consortium sites (October 2021-August 2023). Infants initiated on ECMO were enrolled for GS regardless of suspected genetic disease. Demographics, ECMO indications, and results from standard-care testing and study-based GS were analyzed.
Results: Twenty-five infants were enrolled. Primary ECMO indications included congenital diaphragmatic hernia (28%), meconium aspiration syndrome (24%), and primary respiratory failure (20%). GS identified pathogenic or likely pathogenic variants in 6/25 infants (24%), including three cytogenetic-confirmed diagnoses and three molecular diagnoses identified only by GS. Variants of uncertain significance were identified in 44% of infants, while 32% had negative results.
Conclusion: Universal GS during ECMO is feasible and yields a relatively high rate of clinically relevant diagnoses, supporting further assessment of the integration of genomic testing into ECMO care pathways.
© 2026. The Author(s), under exclusive licence to Springer Nature America, Inc.
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